serine and Genetic Predisposition studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Research Excerpts

Excerpt	Relevance	Reference
"Accumulating evidence from both genetic and clinico-pharmacological studies suggests that D-serine, an endogenous coagonist to the NMDA subtype glutamate receptor, may be implicated in schizophrenia (SZ)."	9.12	Serine racemase binds to PICK1: potential relevance to schizophrenia. ( Balkissoon, R; Fujii, K; Hikida, T; Huganir, RL; Kawahara, R; Maeda, K; Mustafa, AK; Okawa, M; Ozeki, Y; Sawa, A; Snyder, SH; Ujike, H; Xia, J; Yamada, T, 2006)
"Schizophrenia has a considerable genetic background."	5.43	The inverse link between genetic risk for schizophrenia and migraine through NMDA (N-methyl-D-aspartate) receptor activation via D-serine. ( Degenhardt, F; Grabe, HJ; Hertel, J; Homuth, G; John, U; Lucht, MJ; Nauck, M; Nöthen, MM; Rietschel, M; Schulze, T; Teumer, A; Van der Auwera, S; Völker, U, 2016)
"Schizophrenia is a severe, complex mental disorder."	5.42	Correlation of functional GRIN2A gene promoter polymorphisms with schizophrenia and serum D-serine levels. ( Dang, W; Du, Y; Jiao, K; Liu, R; Liu, Z; Zhou, Q, 2015)
"However, treatment of hyperlipidemia with statins reduces the probability of a CV event."	5.34	Receptor for advanced glycation end products Glycine 82 Serine polymorphism and risk of cardiovascular events in rheumatoid arthritis. ( Carroll, L; Frazer, IH; Marwick, TH; Thomas, R; Turner, M, 2007)
"Accumulating evidence from both genetic and clinico-pharmacological studies suggests that D-serine, an endogenous coagonist to the NMDA subtype glutamate receptor, may be implicated in schizophrenia (SZ)."	5.12	Serine racemase binds to PICK1: potential relevance to schizophrenia. ( Balkissoon, R; Fujii, K; Hikida, T; Huganir, RL; Kawahara, R; Maeda, K; Mustafa, AK; Okawa, M; Ozeki, Y; Sawa, A; Snyder, SH; Ujike, H; Xia, J; Yamada, T, 2006)
"To examine the possible implication of the mRNA-binding protein serine/arginine protein 55 (SRp55, also known as SRSF6) rs2235611 single nucleotide polymorphism (SNP) in the genetic predisposition to systemic sclerosis (SSc) susceptibility and clinical phenotype."	4.12	A candidate gene study reveals association between a variant of the SRp55 splicing factor gene and systemic sclerosis. ( Bellando-Randone, S; Fioretto, BS; Kosalka-Wegiel, J; Manetti, M; Matucci-Cerinic, M; Romano, E; Rosa, I; Sticchi, E, 2022)
"In human heart failure, Ser199 (equivalent to Ser200 in mouse) of cTnI (cardiac troponin I) is significantly hyperphosphorylated, and in vitro studies suggest that it enhances myofilament calcium sensitivity and alters calpain-mediated cTnI proteolysis."	3.85	Heart Failure-Related Hyperphosphorylation in the Cardiac Troponin I C Terminus Has Divergent Effects on Cardiac Function In Vivo. ( Heravi, A; Kass, DA; Keceli, G; Li, Y; Murphy, AM; Okumus, N; Paolocci, N; Ramirez-Correa, G; Takahashi, C; Zhang, P; Zhu, G, 2017)
"A common nonsynonymous single nucleotide polymorphism leading to a serine-to-cysteine substitution at amino acid 704 (Ser(704)Cys) in the DISC1 protein sequence has been recently associated with schizophrenia and with specific hippocampal abnormalities."	3.74	Association of the SerCys DISC1 polymorphism with human hippocampal formation gray matter and function during memory encoding. ( Bertolino, A; Blasi, G; Caforio, G; Callicott, JH; Di Giorgio, A; Gambi, F; Kolachana, B; Latorre, V; Nardini, M; Papazacharias, A; Popolizio, T; Rampino, A; Rizzo, M; Romano, R; Sambataro, F; Weinberger, DR, 2008)
"This band was linked to migraine with aura (MA) in two Australian families."	2.44	Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine. ( Alonso, A; Castillo, J; Cayon, A; Monton, F; Oterino, A; Pascual, J; Ruiz-Alegria, C; Ruiz-Lavilla, N; Valle, N, 2007)
"The ORs for prostate cancer were 0."	2.42	ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer. ( Boyle, P; English, DR; Giles, GG; Hopper, JL; McCredie, MR; Morris, H; Neufing, P; Severi, G; Southey, MC; Tesoriero, A; Tilley, W, 2003)
"Based on the multitude of genetic predispositions in PD and the incomplete penetrance of LRRK2-G2019S, we hypothesize that modifiers in the patients' genetic background act as susceptibility factors for developing PD."	1.51	Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients. ( Antony, PMA; Berger, E; Bolognin, S; Gérard, D; Glaab, E; Halder, R; Hankemeier, T; Harms, A; Hemmer, K; Jaeger, C; Jarazo, J; Klein, C; Lucarelli, P; Nickels, SL; Qing, X; Sauter, T; Schwamborn, JC; Sinkkonen, L; Tisserand, J; Walter, J, 2019)
"The survival rate of childhood acute lymphoblastic leukemia (ALL) is approaching 90%, while the prognosis of adults remains poor due to the limited therapeutic approaches."	1.46	Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia. ( Chen, H; Hu, L; Jiang, M; Li, B; Li, Q; Liu, T; Ning, H; Wang, D; Zhang, B, 2017)
" It is well established that reduced vascular endothelial nitric oxide (NO) bioavailability promotes arterial inflammation; however, the role of NO in modulating inflammation in AT remains disputed."	1.43	Ablation of eNOS does not promote adipose tissue inflammation. ( Gastecki, ML; Jurrissen, TJ; Padilla, J; Rector, RS; Sheldon, RD; Vieira-Potter, VJ; Woodford, ML; Zidon, TM, 2016)
"Schizophrenia has a considerable genetic background."	1.43	The inverse link between genetic risk for schizophrenia and migraine through NMDA (N-methyl-D-aspartate) receptor activation via D-serine. ( Degenhardt, F; Grabe, HJ; Hertel, J; Homuth, G; John, U; Lucht, MJ; Nauck, M; Nöthen, MM; Rietschel, M; Schulze, T; Teumer, A; Van der Auwera, S; Völker, U, 2016)
"Schizophrenia is a severe, complex mental disorder."	1.42	Correlation of functional GRIN2A gene promoter polymorphisms with schizophrenia and serum D-serine levels. ( Dang, W; Du, Y; Jiao, K; Liu, R; Liu, Z; Zhou, Q, 2015)
"For those greater than 60 years old, parkinsonism was present in 38."	1.39	Greater risk of parkinsonism associated with non-N370S GBA1 mutations. ( Alfonso, P; Barrett, MJ; Capablo, JL; Garcia-Rodriguez, B; Giraldo, P; Irun, P; Pastores, GM; Pocovi, M, 2013)
"Parkinson's disease is a promising target of applying personalized medicine."	1.38	[The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon's disease patients]. ( Balicza, P; Balogh, I; Bereznai, B; Dibó, G; Hidasi, E; Klivényi, P; Molnár, MJ; Takáts, A, 2012)
"While Parkinson's disease (PD) phenotype in leucine-rich repeat kinase 2 gene (LRRK2)-associated and sporadic PD seems similar, there is paucity of data on the possible effect of mutations in LRRK2 on response to and complications of dopaminergic therapy."	1.38	Dyskinesias in patients with Parkinson's disease: effect of the leucine-rich repeat kinase 2 (LRRK2) G2019S mutation. ( Cohen, OS; Friedman, E; Hassin-Baer, S; Inzelberg, R; Kaplan, N; Korczyn, AD; Kozlova, E; Rosset, S; Vituri, A; Yahalom, G, 2012)
"Celiac disease is a diet-induced, T cell-mediated enteropathy."	1.38	T-cell response to gluten in patients with HLA-DQ2.2 reveals requirement of peptide-MHC stability in celiac disease. ( Bodd, M; Kim, CY; Lundin, KE; Sollid, LM, 2012)
"Schizophrenia is a heritable, complex mental disorder."	1.37	Association study of DRD3 gene in schizophrenia in Mexican sib-pairs. ( Aguilar, A; Apiquián, R; Camarena, B; Carnevale, A; Fresán, A; Nicolini, H; Orozco, L; Urraca, N, 2011)
"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a nonlesional condition associated with mutation of the gene coding for the alpha4 nicotinic acetylcholine receptor (nAChR)."	1.36	Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. ( Benjamin, C; Berkovic, SF; Fedi, M; Reutens, DC; Saling, MM; Scheffer, IE; Wood, AG, 2010)
"UK Medical Research Council; UK Parkinson's Disease Society; UK Brain Research Trust; Internationaal Parkinson Fonds; Volkswagen Foundation; National Institutes of Health: National Institute of Neurological Disorders and Stroke and National Institute of Aging; Udall Parkinson's Disease Centre of Excellence; Pacific Alzheimer Research Foundation Centre; Italian Telethon Foundation; Fondazione Grigioni per il Morbo di Parkinson; Michael J Fox Foundation for Parkinson's Research; Safra Global Genetics Consortium; US Department of Veterans Affairs; French Agence Nationale de la Recherche."	1.35	Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. ( Aasly, J; Berciano, J; Bhatia, KP; Bonifati, V; Bressman, S; Brice, A; Durr, A; Falchi, M; Ferreira, JJ; Gasser, T; Goldwurm, S; Healy, DG; Kay, DM; Klein, C; Lang, AE; Lees, AJ; Lynch, T; Marras, C; O'Sullivan, SS; Schapira, AH; Tolosa, E; Williams, DR; Wood, NW; Wszolek, ZK; Zabetian, CP, 2008)
"Periodontitis is a multifactorial disease in which environmental and genetic determinant factors contribute to individual subjects susceptibility."	1.35	E-selectin and L-selectin polymorphisms in patients with periodontitis. ( Gholami, L; Hajilooi, M; Houshmand, B; Mani-Kashani, K; Rafiei, A, 2009)
"The allele may predispose to breast cancers of certain histologic subtypes, but further studies are needed to confirm these findings."	1.35	BARD1 and breast cancer in Poland. ( Byrski, T; Cybulski, C; Debniak, T; Górski, B; Gronwald, J; Huzarski, T; Jakubowska, A; Kowalska, E; Lubiński, J; Narod, SA; Szymańska, A, 2008)
" The right medial superior frontal gyrus volume was significantly correlated with daily dosage of antipsychotic medication in Ser homozygote schizophrenia patients."	1.35	The Disrupted-in-Schizophrenia-1 Ser704Cys polymorphism and brain morphology in schizophrenia. ( Hagino, H; Kawasaki, Y; Kobayashi, S; Kurachi, M; Maeno, N; Niu, L; Ozaki, N; Sasaoka, T; Seto, H; Suzuki, M; Takahashi, T; Tsuneki, H; Tsunoda, M; Zhou, SY, 2009)
"We studied 402 prostate cancer patients for the presence of the 1772C > T (P582S) and 1790G > A (A588T) mutations within the oxygen-dependent domain of HIF-1 alpha."	1.34	The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-1 alpha is associated with increased risk for prostate cancer. ( Bar-Shira, A; Mabjeesh, NJ; Matzkin, H; Orr-Urtreger, A, 2007)
"Significantly increased risk for gallbladder cancer was both the hOGG1 326Ser/Cys (Odds ratio [OR] = 1."	1.34	hOGG1 Ser326Cys polymorphism and susceptibility to gallbladder cancer in a Chinese population. ( Ce, B; Hu, Y; Huang, J; Jiao, X; Luo, C; Lv, M; Su, X; Wu, S, 2007)
"However, treatment of hyperlipidemia with statins reduces the probability of a CV event."	1.34	Receptor for advanced glycation end products Glycine 82 Serine polymorphism and risk of cardiovascular events in rheumatoid arthritis. ( Carroll, L; Frazer, IH; Marwick, TH; Thomas, R; Turner, M, 2007)
"Here, we show that breast-ovarian cancer susceptibility 1 (BRCA1) interacts directly with ATR-interacting protein (ATRIP), an obligate partner of ATR."	1.34	Phosphorylation of ATR-interacting protein on Ser239 mediates an interaction with breast-ovarian cancer susceptibility 1 and checkpoint function. ( Halazonetis, TD; Snyder, A; Venere, M; Zgheib, O, 2007)
"In addition associations with breast cancer were studied in 751 breast cancer patients."	1.34	Polymorphic variations in exon 10 of the luteinizing hormone receptor: functional consequences and associations with breast cancer. ( Berns, EM; Look, MP; Piersma, D; Pols, HA; Themmen, AP; Uitterlinden, AG; Verhoef-Post, M, 2007)
"Although tooth loss is a serious health problem for elderly people, little is known about the genetic basis for susceptibility to it."	1.33	Association of the OGG1 Ser326Cys polymorphism with tooth loss. ( Hamanaka, Y; Hasui, Y; Hinoda, Y; Okayama, N; Shinozaki, F; Suehiro, Y; Ueyama, Y, 2006)
"Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect."	1.33	Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. ( Amouri, R; Brice, A; Dürr, A; Farrer, MJ; Foroud, TM; Gibson, R; Griffith, A; Hattori, N; Hentati, F; Ishihara, L; Leppert, D; Lesage, S; Middleton, L; Nichols, WC; Tazir, M; Uitti, RJ; Warren, L; Watts, R; Wszolek, ZK; Zabetian, CP, 2006)
"LPL immunostains senile plaques, and is a ligand of the low-density lipoprotein receptor-related protein (LRP), a major apolipoprotein E (apoE) receptor."	1.31	Lack of association of two lipoprotein lipase polymorphisms with Alzheimer's disease. ( Cho, HS; Martin-Rehrmann, MD; Rebeck, GW, 2002)
"In a cohort of 1253 prostate cancer patients and age-matched controls, the presence of the polymorphism was associated with a 1."	1.31	Occurrence of NKX3.1 C154T polymorphism in men with and without prostate cancer and studies of its effect on protein function. ( Abbaszadegan, M; Ahronovitz, N; Brown, KM; Gelmann, EP; Hayes, RB; Ma, J; Stampfer, MJ; Steadman, DJ; Strand, K; Swope, S; Voeller, HJ, 2002)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	3 (1.76)	18.2507
2000's	107 (62.94)	29.6817
2010's	56 (32.94)	24.3611
2020's	4 (2.35)	2.80

Trial	Phase	Enrollment	Study Type	Start Date	Status
A Randomised Double Blind Study of the Effects of Homocysteine Lowering Therapy on Mortality and Cardiac Events in Patients Undergoing Coronary Angiography[NCT00354081]	Phase 3	3,096 participants (Actual)	Interventional	1999-04-30	Completed
Peripheral Gene Expression of Endocannabinoid System Components in Episodic and Chronic Migraine Patients: a Pilot Study[NCT04324710]		75 participants (Actual)	Observational	2017-12-12	Completed
A Randomised Non-pharmacological Intervention Study for Prevention of Ischaemic Heart Disease Inter99[NCT00289237]		61,301 participants (Actual)	Interventional	1999-03-31	Completed
The DNA and Cell Bank of IFR of Neurosciences: Clinical and Genetic Study of Parkinson's Disease and Epilepsies[NCT00142363]		1,700 participants	Observational	2004-05-31	Terminated
Parkin Mutations and Their Functional Consequences[NCT00136721]		2,500 participants	Observational	2002-06-30	Active, not recruiting
Study of the N680S Polymorphism of the FSHR Gene and Its Relationship With the Type of Gonadotropin Used in Controlled Ovarian Stimulation[NCT04122729]		300 participants (Anticipated)	Observational	2019-09-25	Recruiting
Longitudinal Family/Molecular Genetic Study to Validate Research Domain Criteria[NCT02415647]		2,800 participants (Anticipated)	Observational	2014-10-31	Recruiting
The Bogalusa Heart Study[NCT00005129]		11,737 participants (Actual)	Observational	1972-06-30	Active, not recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Article	Year
Linking Metabolic Disease With the PGC-1α Gly482Ser Polymorphism. Endocrinology, 2018, 02-01, Volume: 159, Issue:2 Topics: Amino Acid Substitution; Diabetes Mellitus, Type 2; Genetic Linkage; Genetic Predisposition to Disea	2018
A meta-analysis of the association between the hOGG1 Ser326Cys polymorphism and the risk of esophageal squamous cell carcinoma. PloS one, 2013, Volume: 8, Issue:6 Topics: Aged; Alleles; Carcinoma, Squamous Cell; Case-Control Studies; Cysteine; DNA Glycosylases; Esophagea	2013
Association between the hOGG1 Ser326Cys polymorphism and lung cancer susceptibility: a meta-analysis based on 22,475 subjects. Diagnostic pathology, 2013, Aug-23, Volume: 8 Topics: Chi-Square Distribution; DNA Glycosylases; Gene Frequency; Genetic Predisposition to Disease; Hetero	2013
Lack of association between UCHL1 S18Y gene polymorphism and Parkinson's disease in the Asian population: a meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014, Volume: 35, Issue:12 Topics: Asian People; Genetic Predisposition to Disease; Humans; Parkinson Disease; Polymorphism, Single Nuc	2014
Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor. Movement disorders : official journal of the Movement Disorder Society, 2009, Oct-15, Volume: 24, Issue:13 Topics: Adult; Age of Onset; Aged; Aged, 80 and over; Case-Control Studies; DNA Mutational Analysis; Essenti	2009
LRRK2 G2019S in the North African population: a review. European neurology, 2010, Volume: 63, Issue:6 Topics: Africa, Northern; Genetic Predisposition to Disease; Glycine; Humans; Leucine-Rich Repeat Serine-Thr	2010
Meta-analysis on the association of TIRAP S180L variant and tuberculosis susceptibility. Tuberculosis (Edinburgh, Scotland), 2011, Volume: 91, Issue:3 Topics: Black People; Case-Control Studies; Confidence Intervals; Female; Genetic Predisposition to Disease;	2011
Amyloid neuropathy with transthyretin mutations: overview and unique Ala97Ser in Taiwan. Acta neurologica Taiwanica, 2011, Volume: 20, Issue:2 Topics: Age of Onset; Alanine; Amyloid Neuropathies; Female; Genetic Predisposition to Disease; Humans; Male	2011
CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis. Metabolism: clinical and experimental, 2012, Volume: 61, Issue:9 Topics: Aryl Hydrocarbon Hydroxylases; Asparagine; Case-Control Studies; Colorectal Neoplasms; Confounding F	2012
ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer. Journal of the National Cancer Institute, 2003, Jun-04, Volume: 95, Issue:11 Topics: Aged; Alanine; Case-Control Studies; Genetic Predisposition to Disease; Heterozygote; Homozygote; Hu	2003
[Outcome of genetic studies on atypical psychoses]. Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica, 2004, Volume: 106, Issue:3 Topics: Chromosomes, Human, Pair 1; Cysteine; Genetic Predisposition to Disease; Haplotypes; Humans; Membran	2004
[S20G mutation of amylin gene--amyloid diabetes due to S20G amylin gene mutation]. Nihon rinsho. Japanese journal of clinical medicine, 2005, Volume: 63 Suppl 2 Topics: Amino Acid Sequence; Amino Acid Substitution; Amyloid; Animals; Diabetes Mellitus, Type 2; Genetic P	2005
[HNF-1alpha G319S mutation in Oji-Cree type 2 diabetes]. Nihon rinsho. Japanese journal of clinical medicine, 2005, Volume: 63 Suppl 2 Topics: Amino Acid Substitution; Canada; Diabetes Mellitus, Type 2; DNA-Binding Proteins; Genetic Predisposi	2005
Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine. The journal of headache and pain, 2007, Volume: 8, Issue:4 Topics: Adult; Amino Acid Substitution; Brain; Case-Control Studies; Chromosomes, Human, X; Cysteine; DNA Mu	2007
Pharmacogenetics of tardive dyskinesia: combined analysis of 780 patients supports association with dopamine D3 receptor gene Ser9Gly polymorphism. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 2002, Volume: 27, Issue:1 Topics: Adult; Aged; Analysis of Variance; Chi-Square Distribution; Confidence Intervals; Dyskinesia, Drug-I	2002

Article	Year
Methylenetetrahydrofolate Dehydrogenase 1 Polymorphisms Modify the Associations of Plasma Glycine and Serine With Risk of Acute Myocardial Infarction in Patients With Stable Angina Pectoris in WENBIT (Western Norway B Vitamin Intervention Trial). Circulation. Cardiovascular genetics, 2016, Volume: 9, Issue:6 Topics: Aged; Angina, Stable; Coronary Angiography; Female; Gene Frequency; Genetic Predisposition to Diseas	2016
hOGG1 Ser326Cys polymorphism and breast cancer risk among Asian women. Breast cancer research and treatment, 2003, Volume: 79, Issue:1 Topics: Adult; Aged; Amino Acid Substitution; Asian People; Breast Neoplasms; Case-Control Studies; Cysteine	2003
Serine racemase binds to PICK1: potential relevance to schizophrenia. Molecular psychiatry, 2006, Volume: 11, Issue:2 Topics: Adult; Animals; Astrocytes; Carrier Proteins; Case-Control Studies; Female; Genetic Predisposition t	2006

Article	Year
A candidate gene study reveals association between a variant of the SRp55 splicing factor gene and systemic sclerosis. Clinical and experimental rheumatology, 2022, Volume: 40, Issue:10 Topics: Arginine; Autoantibodies; Case-Control Studies; Gene Frequency; Genetic Predisposition to Disease; G	2022
Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains. PloS one, 2023, Volume: 18, Issue:11 Topics: BRCA1 Protein; DNA Repair; Genetic Predisposition to Disease; Humans; Mutation, Missense; Recombinat	2023
Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients. Parkinsonism & related disorders, 2019, Volume: 67 Topics: Case-Control Studies; Cell Line; Cell Self Renewal; Cell Survival; Genetic Predisposition to Disease	2019
Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer's and Parkinson's diseases. Human molecular genetics, 2020, 01-15, Volume: 29, Issue:2 Topics: Alzheimer Disease; Asian People; ATP-Binding Cassette Transporters; Carnitine; China; DNA-Binding Pr	2020
Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression. Genome medicine, 2021, 03-09, Volume: 13, Issue:1 Topics: Biosynthetic Pathways; Diabetes Mellitus, Type 2; Disease Progression; Endophenotypes; Genetic Loci;	2021
Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia. Oncotarget, 2017, May-23, Volume: 8, Issue:21 Topics: Adolescent; Adult; Animals; Cell Line, Tumor; Cell Proliferation; Exome Sequencing; Female; Genetic	2017
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry. Movement disorders : official journal of the Movement Disorder Society, 2017, Volume: 32, Issue:10 Topics: Adult; Aged; Aged, 80 and over; Cohort Studies; Family Health; Female; Gene Frequency; Genetic Predi	2017
An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2017, 09-06, Volume: 37, Issue:36 Topics: Aging; Alleles; Animals; Basic Helix-Loop-Helix Transcription Factors; Female; Gene Knock-In Techniq	2017
Delta-Secretase Phosphorylation by SRPK2 Enhances Its Enzymatic Activity, Provoking Pathogenesis in Alzheimer's Disease. Molecular cell, 2017, Sep-07, Volume: 67, Issue:5 Topics: Alzheimer Disease; Amyloid Precursor Protein Secretases; Animals; Behavior, Animal; Brain; Cognition	2017
Heart Failure-Related Hyperphosphorylation in the Cardiac Troponin I C Terminus Has Divergent Effects on Cardiac Function In Vivo. Circulation. Heart failure, 2017, Volume: 10, Issue:9 Topics: Adrenergic beta-Agonists; Animals; Calpain; Disease Models, Animal; Genetic Predisposition to Diseas	2017
Elevated LRRK2 autophosphorylation in brain-derived and peripheral exosomes in LRRK2 mutation carriers. Acta neuropathologica communications, 2017, Nov-22, Volume: 5, Issue:1 Topics: Aged; Brain; Case-Control Studies; Cohort Studies; DNA-Binding Proteins; Endosomal Sorting Complexes	2017
Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women. Journal of assisted reproduction and genetics, 2013, Volume: 30, Issue:5 Topics: Adult; Alanine; Amino Acid Substitution; Asian People; Asparagine; Case-Control Studies; China; Fema	2013
Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life. Alzheimer's & dementia : the journal of the Alzheimer's Association, 2014, Volume: 10, Issue:2 Topics: Adult; Age of Onset; Aged; Alzheimer Disease; Amyloid beta-Peptides; Brain; Brain Waves; Cognition D	2014
Requirement for phosphorylation of P53 at Ser312 in suppression of chemical carcinogenesis. Scientific reports, 2013, Oct-31, Volume: 3 Topics: Animals; Carcinogens; Cell Transformation, Neoplastic; Disease Models, Animal; DNA Mutational Analys	2013
RAGE gene polymorphism and environmental factor in the risk of oral cancer. Journal of dental research, 2015, Volume: 94, Issue:3 Topics: Adenine; Areca; Base Pairing; Base Sequence; Carcinogenesis; Case-Control Studies; Cytosine; Female;	2015
Association of single-nucleotide polymorphisms in the IRF6 gene with non-syndromic cleft lip with or without cleft palate in the Xinjiang Uyghur population. The British journal of oral & maxillofacial surgery, 2015, Volume: 53, Issue:3 Topics: 5' Flanking Region; 5' Untranslated Regions; Adenine; Case-Control Studies; Cleft Lip; Cleft Palate;	2015
Brief Report: Main Contribution of DRB104:05 Among the Shared Epitope Alleles and Involvement of DRB1 Amino Acid Position 57 in Association With Joint Destruction in Anti-Citrullinated Protein Antibody-Positive Rheumatoid Arthritis. Arthritis & rheumatology (Hoboken, N.J.), 2015, Volume: 67, Issue:7* Topics: Adult; Aged; Alleles; Amino Acids; Antibodies, Anti-Idiotypic; Arthritis, Rheumatoid; Asian People;	2015
Correlation of functional GRIN2A gene promoter polymorphisms with schizophrenia and serum D-serine levels. Gene, 2015, Aug-15, Volume: 568, Issue:1 Topics: Adult; Case-Control Studies; China; Dinucleotide Repeats; Female; Gene Frequency; Genetic Associatio	2015
Ablation of eNOS does not promote adipose tissue inflammation. American journal of physiology. Regulatory, integrative and comparative physiology, 2016, Apr-15, Volume: 310, Issue:8 Topics: Adipose Tissue, Brown; Adiposity; Animals; Diet, High-Fat; Disease Models, Animal; Genetic Predispos	2016
Identification of Novel Variants in the PVRL1 Gene in Patients With Nonsyndromic Cleft Lip With or Without Cleft Palate. Genetic testing and molecular biomarkers, 2016, Volume: 20, Issue:5 Topics: Amino Acid Substitution; Case-Control Studies; Cell Adhesion Molecules; Child; Child, Preschool; Cle	2016
Frequency of Tabagism and N34S and P55S Mutations of Serine Peptidase Inhibitor, Kazal Type 1 (SPINK1) and R254W Mutation of Chymotrypsin C (CTRC) in Patients With Chronic Pancreatitis and Controls. Pancreas, 2016, Volume: 45, Issue:9 Topics: Chronic Disease; Chymotrypsin; Genetic Predisposition to Disease; Humans; Mutation; Pancreatitis; Se	2016
The inverse link between genetic risk for schizophrenia and migraine through NMDA (N-methyl-D-aspartate) receptor activation via D-serine. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology, 2016, Volume: 26, Issue:9 Topics: Epistasis, Genetic; Female; Genetic Association Studies; Genetic Predisposition to Disease; Humans;	2016
Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy. Scientific reports, 2016, 11-04, Volume: 6 Topics: Adolescent; Cell Line; Female; Genetic Predisposition to Disease; Glomerulonephritis, IGA; Humans; K	2016
Elucidating the role of the pLG72 R30K substitution in schizophrenia susceptibility. FEBS letters, 2017, Volume: 591, Issue:4 Topics: Amino Acid Substitution; Carrier Proteins; Cell Line, Tumor; Chlorpromazine; Circular Dichroism; D-A	2017
LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study. The Lancet. Neurology, 2008, Volume: 7, Issue:7 Topics: Age Factors; Case-Control Studies; Gene Frequency; Genetic Predisposition to Disease; Genotype; Glyc	2008
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. The Lancet. Neurology, 2008, Volume: 7, Issue:7 Topics: Age Factors; Age of Onset; Case-Control Studies; DNA Mutational Analysis; Family Health; Female; Gen	2008
Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy. Parkinsonism & related disorders, 2009, Volume: 15, Issue:3 Topics: Adult; Age of Onset; Aged; DNA Mutational Analysis; Female; Fluorodeoxyglucose F18; Gene Frequency;	2009
A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. Parkinsonism & related disorders, 2009, Volume: 15, Issue:4 Topics: Aged; DNA Mutational Analysis; Family Health; Female; France; Genetic Predisposition to Disease; Gly	2009
LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease. Parkinsonism & related disorders, 2009, Volume: 15, Issue:3 Topics: Age of Onset; Aged; Aged, 80 and over; DNA Mutational Analysis; Female; Gene Frequency; Genetic Pred	2009
The Ser311Cys variation in the paraoxonase 2 gene increases the risk of type 2 diabetes in northern Chinese. Journal of genetics, 2008, Volume: 87, Issue:2 Topics: Amino Acid Substitution; Aryldialkylphosphatase; Asian People; Blood Pressure; Case-Control Studies;	2008
Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients. Parkinsonism & related disorders, 2009, Volume: 15, Issue:4 Topics: Adult; Age Factors; Aged; Aged, 80 and over; Arginine; Cysteine; DNA Mutational Analysis; Female; Ge	2009
E-selectin and L-selectin polymorphisms in patients with periodontitis. Journal of periodontal research, 2009, Volume: 44, Issue:1 Topics: Adenine; Adolescent; Adult; Aggressive Periodontitis; Alleles; Arginine; Chronic Periodontitis; Cyto	2009
Association of the SerCys DISC1 polymorphism with human hippocampal formation gray matter and function during memory encoding. The European journal of neuroscience, 2008, Volume: 28, Issue:10 Topics: Adult; Alleles; Amino Acid Sequence; Amino Acid Substitution; Cysteine; DNA Mutational Analysis; Fem	2008
Association of the dopamine D3 receptor Ser9Gly and of the serotonin 2C receptor gene polymorphisms with tardive dyskinesia in Greeks with chronic schizophrenic disorder. Psychiatric genetics, 2009, Volume: 19, Issue:2 Topics: Amino Acid Substitution; Chronic Disease; Dyskinesias; Female; Genetic Predisposition to Disease; Gl	2009
Genetic study of BDNF, DRD3, and their interaction in tardive dyskinesia. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology, 2009, Volume: 19, Issue:5 Topics: Adult; Akathisia, Drug-Induced; Analysis of Variance; Brain-Derived Neurotrophic Factor; Chi-Square	2009
Association analysis of glycine- and serine-related genes in a Japanese population of patients with schizophrenia. Progress in neuro-psychopharmacology & biological psychiatry, 2009, Apr-30, Volume: 33, Issue:3 Topics: Adult; Case-Control Studies; Chi-Square Distribution; D-Amino-Acid Oxidase; DNA Mutational Analysis;	2009
PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease. Parkinsonism & related disorders, 2009, Volume: 15, Issue:7 Topics: Aged; Asparagine; Austria; Carrier Proteins; DNA Mutational Analysis; Egypt; Female; Gene Frequency;	2009
Genetic variants of D2 but not D3 or D4 dopamine receptor gene are associated with rapid onset and poor prognosis of methamphetamine psychosis. Progress in neuro-psychopharmacology & biological psychiatry, 2009, Jun-15, Volume: 33, Issue:4 Topics: Adult; Case-Control Studies; Central Nervous System Stimulants; DNA Mutational Analysis; Female; Gen	2009
The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2009, Volume: 16, Issue:6 Topics: Adolescent; Amino Acid Sequence; Amino Acid Substitution; Axons; Charcot-Marie-Tooth Disease; Demyel	2009
The Disrupted-in-Schizophrenia-1 Ser704Cys polymorphism and brain morphology in schizophrenia. Psychiatry research, 2009, May-15, Volume: 172, Issue:2 Topics: Adult; Brain; Cognition Disorders; Cysteine; Female; Frontal Lobe; Gene Frequency; Genetic Predispos	2009
The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland. Human mutation, 2009, Volume: 30, Issue:5 Topics: Alleles; Amino Acid Substitution; Canada; Case-Control Studies; Female; France; Gene Frequency; Gene	2009
Motor complications in patients form the German Competence Network on Parkinson's disease and the DRD3 Ser9Gly polymorphism. Movement disorders : official journal of the Movement Disorder Society, 2009, May-15, Volume: 24, Issue:7 Topics: Aged; Aged, 80 and over; Antipsychotic Agents; Community Networks; Dyskinesia, Drug-Induced; Female;	2009
DRD3 Ser9Gly polymorphism is related to thermal pain perception and modulation in chronic widespread pain patients and healthy controls. The journal of pain, 2009, Volume: 10, Issue:9 Topics: Adult; Amino Acid Sequence; Chronic Disease; DNA Mutational Analysis; Dopamine; Female; Fibromyalgia	2009
Association of the Ser326Cys polymorphism in the OGG1 gene with type 2 DM. Biochemical and biophysical research communications, 2009, Aug-14, Volume: 386, Issue:1 Topics: Aged; Amino Acid Substitution; Asian People; Cysteine; Diabetes Mellitus, Type 2; DNA Glycosylases;	2009
NAD(P)H:quinone oxidoreductase 1 Pro187Ser polymorphism and expression do not cosegregate with clinico-pathological characteristics of human mammary tumors. Pharmacogenetics and genomics, 2009, Volume: 19, Issue:7 Topics: Breast Neoplasms; Gene Expression Regulation, Neoplastic; Genetic Predisposition to Disease; Humans;	2009
Increased radioresistance and accelerated B cell lymphomas in mice with Mdmx mutations that prevent modifications by DNA-damage-activated kinases. Cancer cell, 2009, Jul-07, Volume: 16, Issue:1 Topics: Animals; Blotting, Southern; Codon; Conserved Sequence; DNA Damage; Female; Gene Expression Regulati	2009
hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type. Journal of human genetics, 2009, Volume: 54, Issue:12 Topics: Adenocarcinoma; Adult; Aged; Carcinoma, Small Cell; Carcinoma, Squamous Cell; Case-Control Studies;	2009
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings. Journal of the neurological sciences, 2010, Mar-15, Volume: 290, Issue:1-2 Topics: Age of Onset; Amino Acid Substitution; Brain; Cerebrovascular Circulation; Disease Progression; DNA	2010
Serines 13 and 16 are critical determinants of full-length human mutant huntingtin induced disease pathogenesis in HD mice. Neuron, 2009, Dec-24, Volume: 64, Issue:6 Topics: Alanine; Amino Acid Sequence; Amino Acid Substitution; Amyloid; Animals; Aspartic Acid; Disease Mode	2009
Comorbidity between bipolar disorder and alcohol use disorder: association of dopamine and serotonin gene polymorphisms. Psychiatry research, 2010, Mar-30, Volume: 176, Issue:1 Topics: Adult; Alcohol-Related Disorders; Bipolar Disorder; Chi-Square Distribution; Comorbidity; Cysteine;	2010
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy & behavior : E&B, 2010, Volume: 17, Issue:4 Topics: Adult; Association Learning; Circadian Rhythm; Cognition Disorders; Epilepsy, Frontal Lobe; Female;	2010
The toll-like receptor 1 variant S248N influences placental malaria. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases, 2010, Volume: 10, Issue:6 Topics: Adolescent; Adult; Amino Acid Substitution; Female; Genetic Predisposition to Disease; Ghana; Humans	2010
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. BMC musculoskeletal disorders, 2010, Jun-03, Volume: 11 Topics: Adult; Amino Acid Substitution; Anion Transport Proteins; Cysteine; Genes, Recessive; Genetic Predis	2010
Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Archives of neurology, 2011, Volume: 68, Issue:5 Topics: Age of Onset; Aged; Alzheimer Disease; Amino Acid Substitution; Female; Frontotemporal Lobar Degener	2011
Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. Movement disorders : official journal of the Movement Disorder Society, 2011, Volume: 26, Issue:5 Topics: Adult; Age Factors; Aged; Female; Genetic Predisposition to Disease; Glycine; Humans; Leucine-Rich R	2011
Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease. PloS one, 2011, Feb-09, Volume: 6, Issue:2 Topics: Adaptor Proteins, Signal Transducing; Aged; Aged, 80 and over; Alzheimer Disease; Amyloid beta-Pepti	2011
The 8-oxoguanine DNA N-glycosylase 1 (hOGG1) Ser326Cys variant affects the susceptibility to Graves' disease. Cell biochemistry and function, 2011, Volume: 29, Issue:3 Topics: Adolescent; Adult; Aged; Amino Acid Substitution; Biomarkers; Cysteine; DNA; DNA Damage; DNA Glycosy	2011
Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society, 2011, Aug-15, Volume: 26, Issue:10 Topics: Aged; Aged, 80 and over; Cognition Disorders; Female; Genetic Predisposition to Disease; Glycine; Hu	2011
[Association between variants of lipoprotein lipase and coronary heart disease in a Tunisian population]. Pathologie-biologie, 2012, Volume: 60, Issue:3 Topics: Aged; Amino Acid Substitution; Asparagine; Aspartic Acid; Case-Control Studies; Coronary Disease; Fe	2012
Association study of DRD3 gene in schizophrenia in Mexican sib-pairs. Psychiatry research, 2011, Dec-30, Volume: 190, Issue:2-3 Topics: Adult; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Glycine; Hu	2011
Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene. Genetic testing and molecular biomarkers, 2012, Volume: 16, Issue:1 Topics: Adult; Amino Acid Substitution; Base Sequence; Croatia; Female; Gene Frequency; Genetic Predispositi	2012
Is there any association between GLY82 ser polymorphism of rage gene and Turkish diabetic and non diabetic patients with coronary artery disease? Molecular biology reports, 2012, Volume: 39, Issue:4 Topics: Coronary Artery Disease; Demography; Diabetes Complications; Female; Gene Frequency; Genetic Associa	2012
Association between Thr21Met and Ser89Asn polymorphisms of the urotensin II gene and systemic sclerosis. The Journal of rheumatology, 2012, Volume: 39, Issue:1 Topics: Adult; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Age	2012
T-cell response to gluten in patients with HLA-DQ2.2 reveals requirement of peptide-MHC stability in celiac disease. Gastroenterology, 2012, Volume: 142, Issue:3 Topics: Binding, Competitive; Biopsy; CD4-Positive T-Lymphocytes; Celiac Disease; Cell Line; Chromatography,	2012
The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity. Diabetes, 2012, Volume: 61, Issue:1 Topics: Adenosine Triphosphatases; Adenosine Triphosphate; Alanine; Amino Acid Substitution; ATP-Binding Cas	2012
Pin1 contribution to Alzheimer's disease: transcriptional and epigenetic mechanisms in patients with late-onset Alzheimer's disease. Neuro-degenerative diseases, 2012, Volume: 10, Issue:1-4 Topics: Aged; Aged, 80 and over; Alzheimer Disease; Analysis of Variance; Apolipoprotein E4; Case-Control St	2012
RASSF1A Ala133Ser polymorphism is associated with increased susceptibility to hepatocellular carcinoma in a Turkish population. Gene, 2012, May-01, Volume: 498, Issue:2 Topics: Aged; Alanine; Amino Acid Substitution; Carcinoma, Hepatocellular; Case-Control Studies; Female; Gen	2012
Dyskinesias in patients with Parkinson's disease: effect of the leucine-rich repeat kinase 2 (LRRK2) G2019S mutation. Parkinsonism & related disorders, 2012, Volume: 18, Issue:9 Topics: Adult; Aged; Aged, 80 and over; DNA Mutational Analysis; Dyskinesia, Drug-Induced; Female; Gene Freq	2012
Screening for POLG W748S and A467T mutations in ataxia patients from Spain. Movement disorders : official journal of the Movement Disorder Society, 2012, Sep-01, Volume: 27, Issue:10 Topics: Adult; Age of Onset; Aged; Alanine; Ataxia; DNA Polymerase gamma; DNA-Directed DNA Polymerase; Femal	2012
CD226 Gly307Ser association with neuromyelitis optica in Southern Han Chinese. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2012, Volume: 39, Issue:4 Topics: Adult; Age of Onset; Antigens, Differentiation, T-Lymphocyte; Asian People; Case-Control Studies; Ch	2012
Genetic association between obstructive bronchitis and enzymes of oxidative stress. Metabolism: clinical and experimental, 2012, Volume: 61, Issue:12 Topics: Adult; Arginine; Aryldialkylphosphatase; Bronchitis; Catechol O-Methyltransferase; Chi-Square Distri	2012
Greater risk of parkinsonism associated with non-N370S GBA1 mutations. Journal of inherited metabolic disease, 2013, Volume: 36, Issue:3 Topics: Adult; Aged; Amino Acid Substitution; beta-Glucosidase; Female; Genetic Association Studies; Genetic	2013
[The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon's disease patients]. Ideggyogyaszati szemle, 2012, Jul-30, Volume: 65, Issue:7-8 Topics: Adult; Age of Onset; Aged; Female; Gene Frequency; Genetic Predisposition to Disease; Genetic Testin	2012
Characterization of human DAAO variants potentially related to an increased risk of schizophrenia. Biochimica et biophysica acta, 2013, Volume: 1832, Issue:3 Topics: Apoptosis; Blotting, Western; Carrier Proteins; Caspases; Cell Line, Tumor; Cell Survival; Chlorprom	2013
Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease. Neurology, 2013, Feb-12, Volume: 80, Issue:7 Topics: Aged; Aged, 80 and over; Biomarkers; Chi-Square Distribution; Cohort Studies; Cross-Sectional Studie	2013
Lack of association of two lipoprotein lipase polymorphisms with Alzheimer's disease. Neuroscience letters, 2002, Aug-09, Volume: 328, Issue:2 Topics: Alzheimer Disease; Amino Acid Sequence; Apolipoproteins E; Asparagine; Brain; Brain Chemistry; DNA M	2002
The risk of coronary artery disease in population of Taiwan is associated with Cys-Ser 311 polymorphism of human paraoxonase (PON)-2 gene. Zhonghua yi xue za zhi = Chinese medical journal; Free China ed, 2002, Volume: 65, Issue:9 Topics: Adult; Aged; Aryldialkylphosphatase; Coronary Disease; Cysteine; Esterases; Female; Genetic Predispo	2002
Tissue-specific p53 responses to ionizing radiation and their genetic modification: the key to tissue-specific tumour susceptibility? The Journal of pathology, 2003, Volume: 201, Issue:3 Topics: Animals; Apoptosis; Disease Susceptibility; Epithelium; Genetic Predisposition to Disease; Hematopoi	2003
HPC2/ELAC2 gene variants associated with incident prostate cancer. Journal of human genetics, 2003, Volume: 48, Issue:12 Topics: Age Factors; Alleles; Genetic Predisposition to Disease; Genetic Variation; Genotype; Heterozygote;	2003
Possible association between Cys311Ser polymorphism of paraoxonase 2 gene and late-onset Alzheimer's disease in Chinese. Brain research. Molecular brain research, 2004, Jan-05, Volume: 120, Issue:2 Topics: Aged; Aged, 80 and over; Alleles; Alzheimer Disease; Apolipoproteins E; Aryldialkylphosphatase; Asia	2004
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. Genes, chromosomes & cancer, 2004, Volume: 40, Issue:3 Topics: Adaptor Proteins, Signal Transducing; Amino Acid Substitution; Carrier Proteins; Cell Line, Tumor; C	2004
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. Neurogenetics, 2004, Volume: 5, Issue:3 Topics: Adult; Charcot-Marie-Tooth Disease; Electrophysiology; Exons; Family Health; Female; Genetic Predisp	2004
Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. Journal of medical genetics, 2004, Volume: 41, Issue:9 Topics: Alleles; Amino Acid Sequence; Breast Neoplasms; Cysteine; DNA Mutational Analysis; Female; Finland;	2004
Predisposition to mouse thymic lymphomas in response to ionizing radiation depends on variant alleles encoding metal-responsive transcription factor-1 (Mtf-1). Oncogene, 2005, Jan-13, Volume: 24, Issue:3 Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Base Sequence; Cell Line, Tumor; Disease Mode	2005
Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism. The Journal of clinical endocrinology and metabolism, 2004, Volume: 89, Issue:12 Topics: Adult; Alleles; Asparagine; Female; Fertilization in Vitro; Gene Frequency; Genetic Predisposition t	2004
A Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-gamma coactivator-1 (PGC-1) gene is associated with type 2 diabetes in Caucasians. Folia biologica, 2004, Volume: 50, Issue:5 Topics: Case-Control Studies; Diabetes Mellitus, Type 2; Female; Gene Frequency; Genetic Predisposition to D	2004
Comparative study of the residues 63 and 67 on the HLA-B molecule in patients with Takayasu's Arteritis. Immunology letters, 2005, Jan-31, Volume: 96, Issue:2 Topics: Alleles; Amino Acid Substitution; Female; Gene Frequency; Genetic Markers; Genetic Predisposition to	2005
Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans. Human genetics, 2005, Volume: 116, Issue:4 Topics: Alanine; Base Sequence; Catechol O-Methyltransferase; DNA Primers; Genetic Predisposition to Disease	2005
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Annals of neurology, 2005, Volume: 57, Issue:3 Topics: Aged; Amino Acid Sequence; Animals; Dihydroxyphenylalanine; DNA Mutational Analysis; Family Health;	2005
PGC-1alpha Gly482Ser polymorphism associates with hypertension among Danish whites. Hypertension (Dallas, Tex. : 1979), 2005, Volume: 45, Issue:4 Topics: Adult; Aged; Blood Pressure; Denmark; Female; Genetic Predisposition to Disease; Genotype; Glycine;	2005
c-MYC Asn11Ser is associated with increased risk for familial breast cancer. International journal of cancer, 2005, Nov-20, Volume: 117, Issue:4 Topics: Amino Acid Sequence; Asparagine; Breast Neoplasms; Female; Genetic Predisposition to Disease; Humans	2005
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Movement disorders : official journal of the Movement Disorder Society, 2005, Volume: 20, Issue:12 Topics: Adult; Aged; Aged, 80 and over; Cohort Studies; DNA Mutational Analysis; Family Health; Female; Gene	2005
G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Annals of neurology, 2005, Volume: 58, Issue:5 Topics: Adult; Africa, Northern; Aged; Aged, 80 and over; DNA Mutational Analysis; Family Health; Female; Fr	2005
Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics. Movement disorders : official journal of the Movement Disorder Society, 2006, Volume: 21, Issue:4 Topics: Adolescent; Adult; Age of Onset; Aged; Aged, 80 and over; DNA Mutational Analysis; Family Health; Fe	2006
Association between TP53 and p21 genetic polymorphisms and acute side effects of radiotherapy in breast cancer patients. Breast cancer research and treatment, 2006, Volume: 97, Issue:3 Topics: Arginine; Body Mass Index; Breast Neoplasms; Cyclin-Dependent Kinase Inhibitor p21; Female; Gene Fre	2006
Interaction of OGG1 Ser326Cys polymorphism with cigarette smoking in head and neck squamous cell carcinoma. Molecular carcinogenesis, 2006, Volume: 45, Issue:5 Topics: Adult; Aged; Aged, 80 and over; Alcohol Drinking; Carcinoma, Squamous Cell; Cysteine; DNA Glycosylas	2006
The Gly482Ser missense mutation of the peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1 alpha) gene associates with reduced insulin sensitivity in normal and glucose-intolerant obese subjects. Disease markers, 2005, Volume: 21, Issue:4 Topics: Adult; Amino Acid Substitution; Female; Genetic Predisposition to Disease; Glucose Intolerance; Glyc	2005
Biochemical and pathological characterization of Lrrk2. Annals of neurology, 2006, Volume: 59, Issue:2 Topics: Adult; Aged; Aged, 80 and over; alpha-Synuclein; Amino Acid Sequence; Animals; Blotting, Western; Br	2006
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology, 2006, Feb-14, Volume: 66, Issue:3 Topics: Adult; Aged; Aged, 80 and over; Asparagine; Case-Control Studies; Female; Gene Frequency; Genetic Pr	2006
LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance. Archives of neurology, 2006, Volume: 63, Issue:3 Topics: Adolescent; Adult; Age of Onset; Aged; Aged, 80 and over; Arginine; Child; Child, Preschool; DNA Mut	2006
Association of the OGG1 Ser326Cys polymorphism with tooth loss. Journal of clinical laboratory analysis, 2006, Volume: 20, Issue:2 Topics: Aged; Aged, 80 and over; Cysteine; DNA Glycosylases; Female; Genetic Predisposition to Disease; Geno	2006
Polymorphisms of the glucocorticoid receptor gene and major depression. Biological psychiatry, 2006, Apr-15, Volume: 59, Issue:8 Topics: Adult; Analysis of Variance; Antidepressive Agents; Asparagine; Case-Control Studies; Corticotropin-	2006
The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study. Atherosclerosis, 2007, Volume: 191, Issue:2 Topics: Adult; Aged; Apolipoprotein A-V; Apolipoprotein C-III; Apolipoproteins A; Coronary Angiography; Coro	2007
The human dopamine receptor D2 (DRD2) gene is associated with tardive dyskinesia in patients with schizophrenia. Schizophrenia research, 2006, Volume: 86, Issue:1-3 Topics: Antipsychotic Agents; Case-Control Studies; Dyskinesia, Drug-Induced; Female; Genetic Predisposition	2006
A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. Proceedings of the National Academy of Sciences of the United States of America, 2006, Jul-11, Volume: 103, Issue:28 Topics: Adolescent; Adult; Age of Onset; Aged; Aged, 80 and over; Amino Acid Sequence; Case-Control Studies;	2006
Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). The Journal of biological chemistry, 2006, Oct-06, Volume: 281, Issue:40 Topics: Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Cell Line, Tumor; Endoplasmic Retic	2006
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Archives of neurology, 2006, Volume: 63, Issue:9 Topics: Aged; DNA Mutational Analysis; Family Health; Female; Gene Frequency; Genetic Predisposition to Dise	2006
The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-1 alpha is associated with increased risk for prostate cancer. The Prostate, 2007, Jan-01, Volume: 67, Issue:1 Topics: Adult; Aged; Aged, 80 and over; Cell Hypoxia; Female; Gene Frequency; Genetic Predisposition to Dise	2007
Interactions between the OGG1 Ser326Cys polymorphism and intake of fruit and vegetables in relation to lung cancer. Free radical research, 2006, Volume: 40, Issue:8 Topics: Cysteine; Diet; DNA Glycosylases; Female; Fruit; Genetic Predisposition to Disease; Humans; Lung Neo	2006
Disrupted in schizophrenia 1 genotype and positive symptoms in schizophrenia. Biological psychiatry, 2007, May-15, Volume: 61, Issue:10 Topics: Cysteine; Delusions; Genetic Carrier Screening; Genetic Predisposition to Disease; Genotype; Halluci	2007
Overexpression of phosphorylated STAT-1alpha in the labial salivary glands of patients with Sjögren's syndrome. Arthritis and rheumatism, 2006, Volume: 54, Issue:11 Topics: Gene Expression; Genetic Predisposition to Disease; Humans; Interferon-Stimulated Gene Factor 3; Pho	2006
hOGG1 Ser326Cys polymorphism and risk of hepatocellular carcinoma among Japanese. Journal of epidemiology, 2006, Volume: 16, Issue:6 Topics: Adult; Aged; Amino Acid Substitution; Carcinoma, Hepatocellular; Case-Control Studies; DNA Glycosyla	2006
Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. Neurology, 2007, Apr-03, Volume: 68, Issue:14 Topics: Adult; Age of Onset; Aged; Aged, 80 and over; DNA Mutational Analysis; Family Health; Female; Geneti	2007
The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients. Human psychopharmacology, 2007, Volume: 22, Issue:2 Topics: Alleles; Alzheimer Disease; Apolipoprotein E4; Cognition Disorders; Disease Progression; Follow-Up S	2007
A Ser326Cys polymorphism in the DNA repair gene hOGG1 is not associated with sporadic Alzheimer's disease. Neuroscience letters, 2007, Mar-13, Volume: 414, Issue:3 Topics: Aged; Aged, 80 and over; Alzheimer Disease; Amino Acid Substitution; Brain; Cystine; DNA Damage; DNA	2007
Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis. Blood, 2007, May-15, Volume: 109, Issue:10 Topics: Adult; Alanine; Antithrombin III; Case-Control Studies; Cohort Studies; DNA Mutational Analysis; Fem	2007
S18Y in ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) associated with decreased risk of Parkinson's disease in Sweden. Parkinsonism & related disorders, 2007, Volume: 13, Issue:5 Topics: DNA Mutational Analysis; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans	2007
BARD1 and breast cancer in Poland. Breast cancer research and treatment, 2008, Volume: 107, Issue:1 Topics: Alleles; BRCA1 Protein; Breast Neoplasms; Case-Control Studies; Cell Cycle Proteins; Checkpoint Kina	2008
Alanine to serine polymorphism at position 986 of the calcium-sensing receptor associated with coronary heart disease, myocardial infarction, all-cause, and cardiovascular mortality. The Journal of clinical endocrinology and metabolism, 2007, Volume: 92, Issue:6 Topics: Adult; Aged; Alanine; Calcium; Cause of Death; Coronary Angiography; Coronary Disease; Female; Genet	2007
MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease. Journal of neuroscience research, 2007, May-01, Volume: 85, Issue:6 Topics: Aged; Aged, 80 and over; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Glycine	2007
hOGG1 Ser326Cys polymorphism and susceptibility to gallbladder cancer in a Chinese population. International journal of cancer, 2007, Aug-01, Volume: 121, Issue:3 Topics: Asian People; Case-Control Studies; China; Cysteine; DNA Glycosylases; Female; Gallbladder Neoplasms	2007
Receptor for advanced glycation end products Glycine 82 Serine polymorphism and risk of cardiovascular events in rheumatoid arthritis. Arthritis research & therapy, 2007, Volume: 9, Issue:2 Topics: Adolescent; Adult; Aged; Aged, 80 and over; Arthritis, Rheumatoid; Cardiovascular Diseases; Genetic	2007
Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society, 2007, May-15, Volume: 22, Issue:7 Topics: Aged; Australia; Cohort Studies; DNA Mutational Analysis; Family Health; Female; Genetic Predisposit	2007
The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia. Molecular psychiatry, 2007, Volume: 12, Issue:9 Topics: Adult; Aged; Aged, 80 and over; Asparagine; Chi-Square Distribution; Discoidin Domain Receptor 1; DN	2007
Human KCNQ1 S140G mutation is associated with atrioventricular blocks. Heart rhythm, 2007, Volume: 4, Issue:5 Topics: Animals; Atrial Fibrillation; Atrioventricular Node; China; Chromans; Electrocardiography; Female; G	2007
Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis. Neuroscience letters, 2007, Jun-13, Volume: 420, Issue:2 Topics: Age Factors; Aged; Amino Acid Sequence; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Cyst	2007
Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain. Parkinsonism & related disorders, 2007, Volume: 13, Issue:8 Topics: Adult; Aged; Arginine; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Dis	2007
E-selectin S128R polymorphism leads to severe asthma. Iranian journal of allergy, asthma, and immunology, 2007, Volume: 6, Issue:2 Topics: Adolescent; Adult; Arginine; Asthma; Case-Control Studies; E-Selectin; Female; Genetic Predispositio	2007
Phosphorylation of ATR-interacting protein on Ser239 mediates an interaction with breast-ovarian cancer susceptibility 1 and checkpoint function. Cancer research, 2007, Jul-01, Volume: 67, Issue:13 Topics: Adaptor Proteins, Signal Transducing; Amino Acid Sequence; Ataxia Telangiectasia Mutated Proteins; B	2007
The LOC387715 polymorphism, inflammatory markers, smoking, and age-related macular degeneration. A population-based case-control study. Ophthalmology, 2008, Volume: 115, Issue:4 Topics: Aged; Aged, 80 and over; Alanine; Biomarkers; C-Reactive Protein; Case-Control Studies; Genetic Pred	2008
Increased autophagy in transgenic mice with a G93A mutant SOD1 gene. Brain research, 2007, Sep-05, Volume: 1167 Topics: Amyotrophic Lateral Sclerosis; Animals; Autophagy; Central Nervous System; Disease Models, Animal; F	2007
No association between the DRD3 Ser9Gly polymorphism and schizophrenia. Schizophrenia research, 2008, Volume: 98, Issue:1-3 Topics: Adult; Antipsychotic Agents; Case-Control Studies; Diagnostic and Statistical Manual of Mental Disor	2008
Polymorphic variations in exon 10 of the luteinizing hormone receptor: functional consequences and associations with breast cancer. Molecular and cellular endocrinology, 2007, Sep-30, Volume: 276, Issue:1-2 Topics: Adult; Aged; Aged, 80 and over; Alleles; Asparagine; Breast Neoplasms; Case-Control Studies; Cell Li	2007
Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression. Journal of the neurological sciences, 2008, Apr-15, Volume: 267, Issue:1-2 Topics: Aged; Alanine; Amino Acid Substitution; Amyloid Neuropathies, Familial; Asian People; Axons; DNA Mut	2008
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Movement disorders : official journal of the Movement Disorder Society, 2008, Feb-15, Volume: 23, Issue:3 Topics: Aged; Asparagine; DNA Mutational Analysis; Female; Gene Frequency; Genetic Predisposition to Disease	2008
Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease. European journal of neurology, 2008, Volume: 15, Issue:2 Topics: Aged; Aged, 80 and over; Case-Control Studies; Female; Genetic Predisposition to Disease; Genotype;	2008
The Ser9Gly polymorphism of the dopamine D3 receptor gene and risk of schizophrenia: an association study and a large meta-analysis. Schizophrenia research, 2008, Volume: 101, Issue:1-3 Topics: Adult; Alleles; Case-Control Studies; China; Female; Gene Frequency; Genetic Predisposition to Disea	2008
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Archives of neurology, 2008, Volume: 65, Issue:3 Topics: Aged; Asparagine; Case-Control Studies; DNA Mutational Analysis; Female; Gene Frequency; Genetic Pre	2008
Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan. Molecular psychiatry, 2009, Volume: 14, Issue:9 Topics: Asian People; Case-Control Studies; Cysteine; Family Health; Female; Gene Frequency; Genetic Predisp	2009
Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration. Journal of the neurological sciences, 2008, Jul-15, Volume: 270, Issue:1-2 Topics: Dementia; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Genetic Testing; Glyci	2008
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. Acta neurologica Scandinavica, 2008, Volume: 118, Issue:5 Topics: Adolescent; Adult; Amino Acid Substitution; Charcot-Marie-Tooth Disease; Child; DNA Mutational Analy	2008
Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification. International journal of cancer, 2008, Aug-01, Volume: 123, Issue:3 Topics: Asparagine; Aspartic Acid; Biliary Tract Neoplasms; Blotting, Western; Colorectal Neoplasms, Heredit	2008
The association of genotypic combination of the DRD3 and BDNF polymorphisms on the adhesio interthalamica and medial temporal lobe structures. Progress in neuro-psychopharmacology & biological psychiatry, 2008, Jul-01, Volume: 32, Issue:5 Topics: Adolescent; Adult; Brain-Derived Neurotrophic Factor; Dominance, Cerebral; Female; Genetic Predispos	2008
Mutation screening of dihydropyridine receptor gamma subunit cDNA from malignant hyperthermia susceptible patients. Biochemical Society transactions, 1995, Volume: 23, Issue:2 Topics: Amino Acid Sequence; Base Sequence; Calcium Channels; Calcium Channels, L-Type; Chromosome Mapping;	1995
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics, 1994, Sep-01, Volume: 23, Issue:1 Topics: Amino Acid Sequence; Base Sequence; Calcium Channels; Cardiomyopathy, Hypertrophic; Chromosomes, Hum	1994
hOGG1 Ser326Cys polymorphism and lung cancer susceptibility. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 1999, Volume: 8, Issue:8 Topics: Adult; Aged; Aged, 80 and over; Alleles; Carcinoma, Squamous Cell; Case-Control Studies; Cysteine; D	1999
Further evidence supporting the association between the dopamine receptor D2 Ser/Cys311 variant and disorganized symptomatology of schizophrenia. Schizophrenia research, 2000, Jun-16, Volume: 43, Issue:2-3 Topics: Amino Acid Substitution; Cysteine; Genetic Predisposition to Disease; Genetic Variation; Genotype; H	2000
Impulsiveness, serotonin genes and repetition of deliberate self-harm (DSH). Psychological medicine, 2000, Volume: 30, Issue:6 Topics: Adult; Age Factors; Alleles; Analysis of Variance; Female; Genetic Predisposition to Disease; Humans	2000
Ser326Cys polymorphism in hOGG1 gene and risk of esophageal cancer in a Chinese population. International journal of cancer, 2001, May-20, Volume: 95, Issue:3 Topics: Amino Acid Substitution; Asian People; Cysteine; DNA-Formamidopyrimidine Glycosylase; Esophageal Neo	2001
Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder. Molecular psychiatry, 2001, Volume: 6, Issue:5 Topics: Amino Acid Substitution; Bipolar Disorder; Cysteine; Depressive Disorder; Ethnicity; Europe; Female;	2001
Influence of lipoprotein lipase serine 447 stop polymorphism on tracking of triglycerides and HDL cholesterol from childhood to adulthood and familial risk of coronary artery disease: the Bogalusa heart study. Atherosclerosis, 2001, Volume: 159, Issue:2 Topics: Adolescent; Adult; Cholesterol, HDL; Coronary Artery Disease; Cross-Sectional Studies; Data Collecti	2001
Occurrence of NKX3.1 C154T polymorphism in men with and without prostate cancer and studies of its effect on protein function. Cancer research, 2002, May-01, Volume: 62, Issue:9 Topics: DNA, Neoplasm; Genetic Predisposition to Disease; Homeodomain Proteins; Humans; Male; Phosphorylatio	2002

serine and Genetic Predisposition

Research Excerpts

Research

Studies (170)

Authors

Clinical Trials (8)

Trial Overview

Reviews

Trials

Other Studies

Authors	Studies
Romano, E	1
Rosa, I	1
Fioretto, BS	1
Kosalka-Wegiel, J	1
Sticchi, E	1
Bellando-Randone, S	1
Manetti, M	1
Matucci-Cerinic, M	1
Nagy, G	1
Diabate, M	1
Banerjee, T	1
Adamovich, AI	1
Smith, N	1
Jeon, H	1
Dhar, S	1
Liu, W	1
Burgess, K	1
Chung, D	1
Starita, LM	1
Parvin, JD	1
Nickels, SL	1
Walter, J	1
Bolognin, S	1
Gérard, D	1
Jaeger, C	1
Qing, X	1
Tisserand, J	1
Jarazo, J	1
Hemmer, K	1
Harms, A	1
Halder, R	1
Lucarelli, P	1
Berger, E	1
Antony, PMA	1
Glaab, E	1
Hankemeier, T	1
Klein, C	4
Sauter, T	1
Sinkkonen, L	1
Schwamborn, JC	1
Chai, JF	1
Raichur, S	1
Khor, IW	1
Torta, F	1
Chew, WS	1
Herr, DR	1
Ching, J	1
Kovalik, JP	1
Khoo, CM	1
Wenk, MR	1
Tai, ES	1
Sim, X	1
Bonelli, R	1
Ansell, BRE	1
Lotta, L	1
Scerri, T	1
Clemons, TE	1
Leung, I	1
Peto, T	1
Bird, AC	1
Sallo, FB	1
Langenberg, C	1
Bahlo, M	1
Li, Q	1
Li, B	1
Hu, L	1
Ning, H	1
Jiang, M	1
Wang, D	1
Liu, T	1
Zhang, B	1
Chen, H	2
Lee, AJ	1
Wang, Y	2
Alcalay, RN	1
Mejia-Santana, H	1
Saunders-Pullman, R	3
Bressman, S	4
Corvol, JC	1
Brice, A	5
Lesage, S	4
Mangone, G	1
Tolosa, E	4
Pont-Sunyer, C	1
Vilas, D	1
Schüle, B	1
Kausar, F	1
Foroud, T	1
Berg, D	1
Brockmann, K	1
Goldwurm, S	3
Siri, C	1
Asselta, R	1
Ruiz-Martinez, J	1
Mondragón, E	1
Marras, C	2
Ghate, T	1
Giladi, N	1
Mirelman, A	1
Marder, K	1
Xie, WR	1
Jen, HI	1
Seymour, ML	1
Yeh, SY	1
Pereira, FA	1
Groves, AK	1
Klisch, TJ	1
Zoghbi, HY	1
Wang, ZH	1
Liu, P	1
Liu, X	2
Manfredsson, FP	1
Sandoval, IM	1
Yu, SP	1
Wang, JZ	1
Ye, K	1
Li, Y	2
Zhu, G	1
Paolocci, N	1
Zhang, P	2
Takahashi, C	1
Okumus, N	1
Heravi, A	1
Keceli, G	1
Ramirez-Correa, G	1
Kass, DA	1
Murphy, AM	1
Wang, S	1
Liu, Z	3
Ye, T	1
Mabrouk, OS	1
Maltbie, T	1
Aasly, J	2
West, AB	1
Vandenbeek, R	1
Khan, NP	1
Estall, JL	1
Fu, L	1
Zhang, Z	1
Zhang, A	1
Xu, J	1
Huang, X	1
Zheng, Q	1
Cao, Y	1
Wang, L	2
Du, J	1
Zhang, J	1
Zhou, J	2
Wang, W	1
Tao, S	1
Wang, M	1
Hausner, L	1
Tschäpe, JA	1
Schmitt, HP	1
Hentschel, F	1
Hartmann, T	1
Frölich, L	1
Xu, Z	1
Yu, L	1
Zhang, X	1
Slee, EA	1
Lu, X	1
Sun, S	1
Zhao, Y	1
Jin, G	1
Kang, H	1
Su, S	1
Chien, M	1
Lin, C	1
Chen, M	1
Yang, S	1
Mijiti, A	1
Ling, W	1
Moming, A	1
Terao, C	1
Yano, K	1
Ikari, K	1
Furu, M	1
Yamakawa, N	1
Yoshida, S	1
Hashimoto, M	1
Ito, H	2
Fujii, T	1
Ohmura, K	1
Yurugi, K	1
Miura, Y	1
Maekawa, T	1
Taniguchi, A	1
Momohara, S	1
Yamanaka, H	1
Mimori, T	1
Matsuda, F	1
Liu, R	1
Dang, W	1
Du, Y	1
Zhou, Q	2
Jiao, K	1
Jurrissen, TJ	1
Sheldon, RD	1
Gastecki, ML	1
Woodford, ML	1
Zidon, TM	1
Rector, RS	1
Vieira-Potter, VJ	1
Padilla, J	1
Oner, DA	1
Tastan, H	1
da Costa, MZ	1
Pires, JG	1
Nasser, PD	1
Ferreira, Cda S	1
Teixeira, AC	1
Paranaguá-Vezozzo, DC	1
Guarita, DR	1
Carrilho, FJ	1
Ono, SK	1
Van der Auwera, S	1
Teumer, A	1
Hertel, J	1
Homuth, G	1
Völker, U	1
Lucht, MJ	1
Degenhardt, F	1
Schulze, T	1
Rietschel, M	3
Nöthen, MM	1
John, U	1
Nauck, M	1
Grabe, HJ	1
Wen, S	1
Niedzwiecka, K	1
Zhao, W	1
Xu, S	1
Liang, S	1
Zhu, X	1
Xie, H	1
Tribouillard-Tanvier, D	1
Giraud, MF	1
Zeng, C	1
Dautant, A	1
Kucharczyk, R	1
di Rago, JP	1
Ding, Y	1
Pedersen, ER	1
Svingen, GF	1
Helgeland, Ø	1
Gregory, JF	1
Løland, KH	1
Meyer, K	1
Tell, GS	1
Ueland, PM	1
Nygård, OK	1
Sacchi, S	2
Cappelletti, P	1
Pirone, L	1
Smaldone, G	1
Pedone, E	1
Pollegioni, L	2
Hulihan, MM	1
Ishihara-Paul, L	1
Kachergus, J	1
Warren, L	2
Amouri, R	2
Elango, R	1
Prinjha, RK	1
Upmanyu, R	1
Kefi, M	1
Zouari, M	1
Sassi, SB	1
Yahmed, SB	1
El Euch-Fayeche, G	1
Matthews, PM	1
Middleton, LT	1
Gibson, RA	1
Hentati, F	2
Farrer, MJ	6
Healy, DG	1
Falchi, M	1
O'Sullivan, SS	1
Bonifati, V	2
Durr, A	4
Zabetian, CP	5
Ferreira, JJ	1
Kay, DM	3
Williams, DR	1
Lang, AE	1
Wszolek, ZK	2
Berciano, J	3
Schapira, AH	1
Lynch, T	1
Bhatia, KP	1
Gasser, T	2
Lees, AJ	1
Wood, NW	1
De Rosa, A	1
Criscuolo, C	1
Mancini, P	1
De Martino, M	1
Giordano, IA	1
Pappatà, S	1
Filla, A	1
De Michele, G	1
Lohmann, E	2
Leclere, L	1
De Anna, F	1
Dubois, B	1
Agid, Y	2
Patra, B	1
Parsian, AJ	1
Racette, BA	1
Zhao, JH	1
Perlmutter, JS	1
Parsian, A	1
Qu, Y	1
Yang, Z	1
Jin, F	1
Sun, L	1
Zhang, C	1
Ji, L	1
Sun, H	1
Wang, B	1
Floris, G	1
Cannas, A	1
Solla, P	1
Murru, MR	1
Tranquilli, S	1
Corongiu, D	1
Rolesu, M	1
Cuccu, S	1
Sardu, C	1
Marrosu, F	1
Marrosu, MG	1
Houshmand, B	1
Rafiei, A	2
Hajilooi, M	2
Mani-Kashani, K	1
Gholami, L	1
Di Giorgio, A	1
Blasi, G	1
Sambataro, F	1
Rampino, A	1
Papazacharias, A	1
Gambi, F	1
Romano, R	1
Caforio, G	1
Rizzo, M	1
Latorre, V	1
Popolizio, T	1
Kolachana, B	1
Callicott, JH	1
Nardini, M	2
Weinberger, DR	1
Bertolino, A	1
Rizos, EN	1
Siafakas, N	1
Katsantoni, E	1
Lazou, V	1
Sakellaropoulos, K	1
Kastania, A	1
Kossida, S	1
Chatzigeorgiou, KS	1
Arsenis, G	1
Zerva, L	1
Katsafouros, K	1
Lykouras, L	1
Zai, CC	1
Tiwari, AK	1
De Luca, V	1
Müller, DJ	1
Bulgin, N	1
Hwang, R	1
Zai, GC	1
King, N	1
Voineskos, AN	1
Meltzer, HY	2
Lieberman, JA	1
Potkin, SG	1
Remington, G	1
Kennedy, JL	3
Ohnuma, T	1
Shibata, N	1
Maeshima, H	1
Baba, H	1
Hatano, T	1
Hanzawa, R	1
Arai, H	1
Zimprich, A	1
Schulte, C	1
Reinthaler, E	1
Haubenberger, D	1
Balzar, J	1
Lichtner, P	1
El Tawil, S	1
Edris, S	1
Foki, T	1
Pirker, W	1
Katzenschlager, R	1
Daniel, G	1
Brücke, T	1
Auff, E	1
Ujike, H	2
Katsu, T	1
Okahisa, Y	1
Takaki, M	1
Kodama, M	1
Inada, T	1
Uchimura, N	1
Yamada, M	1
Iwata, N	1
Sora, I	1
Iyo, M	1
Ozaki, N	3
Kuroda, S	1
Bhagavati, S	1
Maccabee, PJ	1
Xu, W	1
Takahashi, T	2
Suzuki, M	2
Tsunoda, M	2
Maeno, N	2
Kawasaki, Y	2
Zhou, SY	2
Hagino, H	2
Niu, L	2
Tsuneki, H	2
Kobayashi, S	2
Sasaoka, T	2
Seto, H	2
Kurachi, M	2
Darlow, JM	1
Molloy, NH	1
Green, AJ	1
Puri, P	1
Barton, DE	1
Paus, S	1
Gadow, F	1
Knapp, M	1
Klockgether, T	1
Wüllner, U	1
Potvin, S	1
Larouche, A	1
Normand, E	1
de Souza, JB	1
Gaumond, I	1
Grignon, S	1
Marchand, S	1
Daimon, M	1
Oizumi, T	1
Toriyama, S	1
Karasawa, S	1
Jimbu, Y	1
Wada, K	1
Kameda, W	1
Susa, S	1
Muramatsu, M	1
Kubota, I	1
Kawata, S	1
Kato, T	1
Hubackova, M	1
Vaclavikova, R	1
Mrhalova, M	1
Kubackova, K	1
Kodet, R	1
Gut, I	1
Soucek, P	1
Wang, YV	1
Leblanc, M	1
Wade, M	1
Jochemsen, AG	1
Wahl, GM	1
García-Martín, E	1
Martínez, C	1
Alonso-Navarro, H	1
Benito-León, J	1
Puertas, I	1
Rubio, L	1
López-Alburquerque, T	1
Agúndez, JA	1
Jiménez-Jiménez, FJ	1
Okasaka, T	1
Matsuo, K	1
Suzuki, T	1
Hosono, S	1
Kawase, T	1
Watanabe, M	1
Yatabe, Y	1
Hida, T	1
Mitsudomi, T	1
Tanaka, H	1
Yokoi, K	1
Tajima, K	3
Doi, H	1
Koyano, S	1
Miyatake, S	1
Matsumoto, N	1
Kameda, T	1
Tomita, A	1
Miyaji, Y	1
Suzuki, Y	1
Sawaishi, Y	1
Kuroiwa, Y	1
Gu, X	1
Greiner, ER	1
Mishra, R	1
Kodali, R	1
Osmand, A	1
Finkbeiner, S	1
Steffan, JS	1
Thompson, LM	1
Wetzel, R	1
Yang, XW	1
Yasseen, B	1
Zawertailo, LA	1
Busto, UE	1
Wood, AG	1
Saling, MM	1
Fedi, M	1
Berkovic, SF	1
Scheffer, IE	1
Benjamin, C	1
Reutens, DC	1
Benamer, HT	1
de Silva, R	1
Hamann, L	1
Bedu-Addo, G	1
Eggelte, TA	1
Schumann, RR	1
Mockenhaupt, FP	1
Hinrichs, T	1
Superti-Furga, A	1
Scheiderer, WD	1
Bonafé, L	1
Brenner, RE	1
Mattes, T	1
Cruchaga, C	2
Graff, C	1
Chiang, HH	1
Wang, J	2
Hinrichs, AL	1
Spiegel, N	1
Bertelsen, S	1
Mayo, K	2
Norton, JB	1
Morris, JC	2
Goate, A	1
Brüggemann, N	1
Hagenah, J	1
Stanley, K	1
Wang, C	1
Raymond, D	2
Ozelius, L	2
Kauwe, JS	1
Karch, CM	1
Sadler, B	1
Lee, M	1
Latu, W	1
Su'a, M	1
Fagan, AM	1
Holtzman, DM	1
Goate, AM	1
Miao, R	1
Li, J	2
Sun, Z	1
Xu, F	1
Shen, H	1
Tanrikulu, S	1
Doğru-Abbasoğlu, S	1
Ozderya, A	1
Ademoğlu, E	1
Karadağ, B	1
Erbil, Y	1
Uysal, M	1
Shanker, V	1
Groves, M	1
Heiman, G	1
Palmese, C	1
Jelassi, A	1
Jguirim, I	1
Slimani, A	1
Najah, M	1
Hamda, KB	1
Addad, F	1
Hassine, M	1
Maatouk, F	1
Varret, M	1
Slimane, MN	1
Urraca, N	1
Camarena, B	1
Aguilar, A	1
Fresán, A	1
Apiquián, R	1
Orozco, L	1
Carnevale, A	1
Nicolini, H	1
Hsieh, ST	1
Goreta, SS	1
Dabelic, S	1
Pavlinic, D	1
Lauc, G	1
Dumic, J	1
Kucukhuseyin, O	1
Yilmaz-Aydogan, H	1
Isbir, CS	1
Isbir, T	1
Pehlivan, Y	1
Gogebakan, B	1
Oztuzcu, S	1
Ozgen, M	1
Cetin, GY	1
Bayraktar, R	1
Cengiz, B	1
Kisacik, B	1
Koca, SS	1
Donmez, S	1
Sayarlioglu, M	1
Demiryurek, AT	1
Onat, AM	1
Bodd, M	1
Kim, CY	1
Lundin, KE	1
Sollid, LM	1
Fatehi, M	1
Raja, M	1
Carter, C	1
Soliman, D	1
Holt, A	1
Light, PE	1
Arosio, B	1
Bulbarelli, A	1
Bastias Candia, S	1
Lonati, E	1
Mastronardi, L	1
Romualdi, P	1
Candeletti, S	1
Gussago, C	1
Galimberti, D	1
Scarpini, E	1
Dell'Osso, B	1
Altamura, C	1
MacCarrone, M	1
Bergamaschini, L	1
D'Addario, C	1
Mari, D	1
Bayram, S	1
Mei, Q	1
Zhou, D	1
Han, J	1
Lu, H	1
Tang, B	1
Yahalom, G	1
Kaplan, N	1
Vituri, A	1
Cohen, OS	1
Inzelberg, R	1
Kozlova, E	1
Korczyn, AD	1
Rosset, S	1
Friedman, E	1
Hassin-Baer, S	1
Pelayo-Negro, AL	1
Sánchez-Quintana, C	1
Rodríguez-Oroz, MC	1
Volpini, V	1
Zeviani, M	1
Tola-Arribas, MA	1
Infante, J	2
Liu, C	1
Wang, G	1
Liu, H	1
Dai, Y	1
Hu, X	1
Bauer, M	1
Gräbsch, C	1
Schlink, U	1
Klopp, N	1
Illig, T	1
Krämer, U	1
von Berg, A	1
Schaaf, B	1
Borte, M	1
Heinrich, J	1
Herbarth, O	1
Lehmann, I	1
Röder, S	1
Barrett, MJ	1
Giraldo, P	1
Capablo, JL	1
Alfonso, P	1
Irun, P	1
Garcia-Rodriguez, B	1
Pocovi, M	1
Pastores, GM	1
Balicza, P	1
Bereznai, B	1
Takáts, A	1
Klivényi, P	1
Dibó, G	1
Hidasi, E	1
Balogh, I	1
Molnár, MJ	1
Caldinelli, L	1
Molla, G	1
Sierra, M	1
Sánchez-Juan, P	1
Martínez-Rodríguez, MI	1
González-Aramburu, I	1
García-Gorostiaga, I	1
Quirce, MR	1
Palacio, E	1
Carril, JM	1
Combarros, O	1
Martin-Rehrmann, MD	1
Cho, HS	1
Rebeck, GW	1
Pan, JP	1
Lai, ST	1
Chiang, SC	1
Chou, SC	1
Chiang, AN	1
Choi, JY	1
Hamajima, N	1
Yoo, KY	1
Yoon, KS	1
Park, SK	1
Kim, SU	1
Lee, KM	1
Noh, DY	1
Ahn, SH	1
Choe, KJ	1
Han, W	1
Hirvonen, A	1
Kang, D	1
Severi, G	1
Giles, GG	1
Southey, MC	1
Tesoriero, A	1
Tilley, W	1
Neufing, P	1
Morris, H	1
English, DR	1
McCredie, MR	1
Boyle, P	1
Hopper, JL	1
Coates, PJ	1
Lorimore, SA	1
Lindsay, KJ	1
Wright, EG	1
Adler, D	1
Kanji, N	1
Trpkov, K	1
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