asparagine and Genetic Predisposition

asparagine has been researched along with Genetic Predisposition in 34 studies

Research

Studies (34)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's20 (58.82)29.6817
2010's13 (38.24)24.3611
2020's1 (2.94)2.80

Authors

AuthorsStudies
Cruz, M; Locia-Morales, D; Meyre, D; Sharma, T; Valladares-Salgado, A; Vázquez-Moreno, M; Wacher-Rodarte, N1
Badenhoop, K; Kraus, AU; Meyer, G; Penna-Martinez, M; Seidl, C; Shoghi, F1
Gomez, GVB; Lima, CSP; Lourenço, GJ; Moraes, AM; Oliveira, C; Rinck-Junior, JA; Torricelli, C1
Cao, Y; Du, J; Fu, L; Huang, X; Wang, L; Xu, J; Zhang, A; Zhang, Z; Zheng, Q1
Chen, G; Feng, Z; Lu, J; Zheng, L; Zou, D1
Baum, L; Chan, JC; Chan, WM; Chan, YM; Choy, KW; Fan, BJ; Fung, NS; Lam, DS; Li, H; Liu, DT; Louey, JW; Pang, CP1
Auff, E; Balzar, J; Brücke, T; Daniel, G; Edris, S; El Tawil, S; Foki, T; Gasser, T; Haubenberger, D; Katzenschlager, R; Lichtner, P; Pirker, W; Reinthaler, E; Schulte, C; Zimprich, A1
Cieślak, D; Gasik, R; Hrycaj, P; Jagodziński, PP; Lianeri, M; Piotrowski, P; Wudarski, M; Łacki, JK1
Bindels, RJ; Forst, AL; Glaudemans, B; Hoenderop, JG; Nair, AV; van der Wijst, J; Venselaar, H1
Colak, E; George, J; Hill, AV; Kempf, T; Kubarenko, AV; Mills, TC; Nieters, A; Rautanen, A; Weber, AN1
Einav, Y; Hauschner, H; Koren, A; Mansour, W; Rosenberg, N; Seligsohn, U1
Addad, F; Hamda, KB; Hassine, M; Jelassi, A; Jguirim, I; Maatouk, F; Najah, M; Slimane, MN; Slimani, A; Varret, M1
Burgunder, JM; Chen, Y; Huang, R; Shang, HF; Song, W1
Cao, L; Chen, S; Chen, SD; Liu, J; Ma, JF; Rong, TY; Wang, G; Wang, Y; Xiao, Q; Zhang, Y1
Han, J; Lu, H; Mei, Q; Tang, B; Zhou, D1
Ando, M; Funayama, M; Hashimoto, T; Hatano, T; Hattori, N; Ishizu, N; Kashihara, K; Kokubo, Y; Kuzuhara, S; Li, Y; Murakami, Y; Nakano, N; Noguchi, K; Ogaki, K; Sasaki, R; Tomiyama, H; Toyoda, C; Yamashita, C; Yoshino, H1
Cho, HS; Martin-Rehrmann, MD; Rebeck, GW1
Hartikainen, J; Hedman, A; Jääskeläinen, P; Kuusisto, J; Laakso, M; Laitinen, T; Peuhkurinen, K; Vanninen, E1
Costagliola, S; Daelemans, C; de Maertelaer, V; Delbaere, A; Englert, Y; Smits, G; Vassart, G1
Bartram, CR; Bermejo, JL; Bugert, P; Burwinkel, B; Butkiewicz, D; Försti, A; Grzybowska, E; Hemminki, K; Klaes, R; Pamula, J; Pekala, W; Schmutzler, RK; Wappenschmidt, B; Wirtenberger, M; Zientek, H1
Arias, A; Feinn, R; Kranzler, HR1
Ampadu, EO; Asamoa, K; Ashford, DA; Etuaful, S; Klutse, EY; Nolte, IM; Oosterom, E; Raghunathan, PL; Stienstra, Y; Tappero, JW; te Meerman, GJ; van der Graaf, WT; van der Steege, G; van der Werf, TS; Whitney, EA1
Aasly, JO; Farrer, MJ; Pielsticker, L; Ross, OA; Toft, M1
Binder, EB; Holsboer, F; Ising, M; Koper, JW; Lamberts, SW; Majer, M; Modell, S; Salyakina, D; van Rossum, EF1
Campos, H; Catanese, JJ; Chokkalingam, AP; Devlin, JJ; Iakoubova, OA; Kirchgessner, TG; Leong, DU; Lew, D; Louie, JZ; Luke, MM; Packard, CJ; Ploughman, LM; Rowland, CM; Sabatine, MS; Sacks, FM; Shaw, PM; Shepherd, J; Tong, CH; Tsuchihashi, Z; Young, BA; Zerba, KE1
Njajou, OT; Sinke, RJ; Sutedja, NA; Van den Berg, LH; Van der Linden, MW; Van der Schouw, YT; Van Duijn, CM; Van Vught, PW; Veldink, JH; Wokke, JH1
Beck, M; Sendtner, M; Toyka, KV1
Carracedo, A; Costas, J; Franco, N; Labad, A; Martorell, L; Roig, B; Valero, J; Vilella, E; Virgos, C1
Christiani, DC; Gonzalez, E; Mahiuddin, G; McCarty, KM; Quamruzzaman, Q; Rahman, M; Ryan, L; Smith, TJ; Su, L; Zhou, W1
Berns, EM; Look, MP; Piersma, D; Pols, HA; Themmen, AP; Uitterlinden, AG; Verhoef-Post, M1
Annesi, F; Annesi, G; Carrideo, S; Cirò Candiano, IC; Civitelli, D; Condino, F; De Marco, EV; Messina, D; Morelli, M; Nicoletti, G; Novellino, F; Provenzano, G; Quattrone, A; Rocca, FE; Tarantino, P1
Alcina, A; Delgado, C; Fedetz, M; Fernández, O; Guerrero, M; Izquierdo, G; Leyva, L; Lucas, M; Matesanz, F; Milne, RL1
Bird, TD; Griffith, A; Leis, BC; Leverenz, JB; Mata, IF; Roberts, JW; Samii, A; Schellenberg, GD; Schneer, SH; Sidransky, E; Tsuang, D; Zabetian, CP1
Dermadi Bebek, D; Greenblatt, M; Nyström, M; Ollila, S1

Reviews

2 review(s) available for asparagine and Genetic Predisposition

ArticleYear
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 Factors, Epidemiologic; Cytochrome P-450 CYP1B1; Genetic Predisposition to Disease; Humans; Odds Ratio; Polymorphism, Single Nucleotide; Risk Assessment; Risk Factors; Serine; White People

2012
Association of an Asn40Asp (A118G) polymorphism in the mu-opioid receptor gene with substance dependence: a meta-analysis.
    Drug and alcohol dependence, 2006, Jul-27, Volume: 83, Issue:3

    Topics: Alcoholism; Asparagine; Aspartic Acid; Gene Frequency; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide; Receptors, Opioid, mu; Risk; Substance-Related Disorders

2006

Other Studies

32 other study(ies) available for asparagine and Genetic Predisposition

ArticleYear
Sex/Gender Modifies the Association Between the MC4R p.Ile269Asn Mutation and Type 2 Diabetes in the Mexican Population.
    The Journal of clinical endocrinology and metabolism, 2021, 01-01, Volume: 106, Issue:1

    Topics: Adult; Aged; Amino Acid Substitution; Asparagine; Case-Control Studies; Cross-Sectional Studies; Diabetes Mellitus, Type 2; Effect Modifier, Epidemiologic; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Isoleucine; Male; Mexico; Middle Aged; Polymorphism, Single Nucleotide; Receptor, Melanocortin, Type 4; Risk Factors; Sex Factors

2021
HLA-DQB1 Position 57 Defines Susceptibility to Isolated and Polyglandular Autoimmunity in Adults: Interaction With Gender.
    The Journal of clinical endocrinology and metabolism, 2019, 06-01, Volume: 104, Issue:6

    Topics: Addison Disease; Adult; Alanine; Amino Acid Substitution; Asparagine; Case-Control Studies; Diabetes Mellitus, Type 1; Female; Genetic Predisposition to Disease; Healthy Volunteers; Heterozygote; HLA-DQ beta-Chains; Homozygote; Humans; Male; Middle Aged; Polyendocrinopathies, Autoimmune; Retrospective Studies; Thyroiditis, Autoimmune

2019
Influence of functional variants Asp312Asn and Lys751Gln of Xeroderma Pigmentosum Group D (XPD) and Glutathione S-transferase Mu 1 (GSTM1) and Theta 1 (GSTT1) genes on cutaneous melanoma susceptibility and prognosis.
    Experimental dermatology, 2019, Volume: 28, Issue:5

    Topics: Aged; Asparagine; Aspartic Acid; Cell Survival; Disease-Free Survival; Genetic Predisposition to Disease; Genetic Variation; Genotype; Glutamine; Glutathione Transferase; Humans; Lysine; Melanoma; Middle Aged; Prognosis; Proportional Hazards Models; Skin Neoplasms; Treatment Outcome; Xeroderma Pigmentosum

2019
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; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Geography; Humans; Mutation, Missense; Polycystic Ovary Syndrome; Polymorphism, Single Nucleotide; Receptors, FSH; Serine; Threonine

2013
Synergistic effect of LEP and LEPR gene polymorphism on body mass index in a Chinese population.
    Obesity research & clinical practice, 2013, Volume: 7, Issue:6

    Topics: Adult; Alleles; Arginine; Asian People; Asparagine; Body Mass Index; China; Female; Genetic Predisposition to Disease; Genotype; Humans; Leptin; Logistic Models; Lysine; Male; Obesity; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Polymorphism, Single-Stranded Conformational; Prevalence; Receptors, Leptin; Risk Factors; Waist-Hip Ratio

2013
EDN1 Lys198Asn is associated with diabetic retinopathy in type 2 diabetes.
    Molecular vision, 2008, Sep-15, Volume: 14

    Topics: Age of Onset; Aged; Asparagine; Case-Control Studies; China; Diabetes Mellitus, Type 2; Diabetic Retinopathy; Endothelin-1; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Hypertension; Lysine; Male; Middle Aged; Odds Ratio; Polymorphism, Single Nucleotide; Regression Analysis

2008
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; Genetic Predisposition to Disease; Genotype; Germany; Humans; Male; Middle Aged; Parkinson Disease; Polymorphism, Single Nucleotide; Serine; Threonine; White People

2009
Asp327Asn polymorphism of sex hormone-binding globulin gene is associated with systemic lupus erythematosus incidence.
    Molecular biology reports, 2010, Volume: 37, Issue:1

    Topics: Amino Acid Substitution; Asparagine; Aspartic Acid; Case-Control Studies; Estradiol; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Incidence; Lupus Erythematosus, Systemic; Poland; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Premenopause; Sex Hormone-Binding Globulin; Testosterone

2010
Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
    The Journal of biological chemistry, 2010, Jan-01, Volume: 285, Issue:1

    Topics: Amino Acid Sequence; Amino Acid Substitution; Asparagine; Cell Line; Genes, Dominant; Genetic Predisposition to Disease; Humans; Ion Channel Gating; Kinetics; Kv1.1 Potassium Channel; Molecular Sequence Data; Mutant Proteins; Mutation; Protein Structure, Secondary; Renal Tubular Transport, Inborn Errors; Surface Properties; Time Factors

2010
MyD88 adaptor-like D96N is a naturally occurring loss-of-function variant of TIRAP.
    Journal of immunology (Baltimore, Md. : 1950), 2010, Mar-15, Volume: 184, Issue:6

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Asparagine; Aspartic Acid; Case-Control Studies; Cell Line, Transformed; Cell Line, Tumor; Genetic Predisposition to Disease; Genetic Variation; Humans; Immunophenotyping; Membrane Glycoproteins; Middle Aged; Multicenter Studies as Topic; Myeloid Differentiation Factor 88; NF-kappa B; Point Mutation; Protein Processing, Post-Translational; Protein Transport; Receptors, Interleukin-1; Signal Transduction

2010
An αIIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the β-propeller (Asn2Asp) disrupts a calcium binding site in blade 6.
    Journal of thrombosis and haemostasis : JTH, 2011, Volume: 9, Issue:1

    Topics: Adolescent; Amino Acid Sequence; Animals; Arabs; Asparagine; Aspartic Acid; Binding Sites; Blood Platelets; Calcium; Cell Line; Child; Child, Preschool; Cricetinae; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Glutamine; Hemostasis; Heredity; Humans; Hydrogen Bonding; Integrin alpha2; Integrin beta3; Israel; Leucine; Male; Models, Molecular; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Protein Conformation; Protein Structure, Tertiary; Protein Transport; Thrombasthenia; Transfection

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; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetics, Population; Genotype; Humans; Lipoprotein Lipase; Male; Middle Aged; Polymorphism, Single Nucleotide; Serine; Tunisia

2012
Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort.
    European journal of neurology, 2012, Volume: 19, Issue:6

    Topics: Adult; Aged; Asian People; Asparagine; Dystonic Disorders; Female; Follow-Up Studies; Genetic Association Studies; Genetic Predisposition to Disease; Histidine; Humans; Male; Middle Aged; Molecular Chaperones; Polymorphism, Single Nucleotide; Young Adult

2012
Vacuolar protein sorting 35 Asp620Asn mutation is rare in the ethnic Chinese population with Parkinson's disease.
    Parkinsonism & related disorders, 2012, Volume: 18, Issue:5

    Topics: Adult; Aged; Aged, 80 and over; Asparagine; Aspartic Acid; China; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Mutation; Parkinson Disease; Vesicular Transport Proteins

2012
VPS35 mutation in Japanese patients with typical Parkinson's disease.
    Movement disorders : official journal of the Movement Disorder Society, 2012, Sep-15, Volume: 27, Issue:11

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Asian People; Asparagine; Aspartic Acid; Child; Disability Evaluation; Family Health; Female; Genetic Predisposition to Disease; Genetic Testing; Haplotypes; Humans; Male; Middle Aged; Mutation; Parkinson Disease; Vesicular Transport Proteins; Young Adult

2012
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 Mutational Analysis; Gene Frequency; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Lipoprotein Lipase; Low Density Lipoprotein Receptor-Related Protein-1; Neurons; Plaque, Amyloid; Point Mutation; Polymorphism, Genetic; Serine

2002
Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomy
    Journal of molecular and cellular cardiology, 2004, Volume: 36, Issue:1

    Topics: Adult; Angiography; Arrhythmias, Cardiac; Asparagine; Aspartic Acid; Biomarkers; Cardiomyopathy, Hypertrophic; Death, Sudden, Cardiac; Echocardiography; Exercise Test; Female; Genetic Predisposition to Disease; Heart Ventricles; Humans; Male; Mutation, Missense; Pedigree; Tropomyosin

2004
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 to Disease; Humans; Iatrogenic Disease; Ovarian Hyperstimulation Syndrome; Polymorphism, Genetic; Receptors, FSH; Serine; Severity of Illness Index; White People

2004
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; Molecular Sequence Data; Polymorphism, Single Nucleotide; Proto-Oncogene Proteins c-myc; Sequence Homology, Amino Acid; Serine

2005
Susceptibility to Buruli ulcer is associated with the SLC11A1 (NRAMP1) D543N polymorphism.
    Genes and immunity, 2006, Volume: 7, Issue:3

    Topics: Adolescent; Adult; Amino Acid Substitution; Asparagine; Aspartic Acid; Cation Transport Proteins; Child; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Male; Mycobacterium Infections, Nontuberculous; Mycobacterium ulcerans; Polymorphism, Genetic; Skin Ulcer

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 Predisposition to Disease; Glucosylceramidase; Heterozygote; Humans; Leucine; Male; Middle Aged; Mutation; Parkinson Disease; Proline; Serine

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-Releasing Hormone; Depressive Disorder, Major; Dexamethasone; DNA Mutational Analysis; Exons; Female; Genetic Predisposition to Disease; Humans; Hydrocortisone; Linkage Disequilibrium; Male; Middle Aged; Neuropsychological Tests; Polymorphism, Genetic; Receptors, Glucocorticoid; Serine; Severity of Illness Index; Time Factors

2006
Asp92Asn polymorphism in the myeloid IgA Fc receptor is associated with myocardial infarction in two disparate populations: CARE and WOSCOPS.
    Arteriosclerosis, thrombosis, and vascular biology, 2006, Volume: 26, Issue:12

    Topics: Alleles; Anticholesteremic Agents; Antigens, CD; Asparagine; Aspartic Acid; Coronary Disease; Genetic Predisposition to Disease; Genotype; Humans; Male; Myocardial Infarction; Odds Ratio; Polymorphism, Single Nucleotide; Pravastatin; Receptors, Fc; Risk Factors; Scotland

2006
The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population.
    Archives of neurology, 2007, Volume: 64, Issue:1

    Topics: Adult; Aged; Aged, 80 and over; Amyotrophic Lateral Sclerosis; Asparagine; Confidence Intervals; DNA Mutational Analysis; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Hemochromatosis Protein; Histidine; Histocompatibility Antigens Class I; Humans; Male; Membrane Proteins; Middle Aged; Mutation; Netherlands; Odds Ratio; Retrospective Studies

2007
Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS.
    Muscle & nerve, 2007, Volume: 36, Issue:1

    Topics: Amyotrophic Lateral Sclerosis; Asparagine; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Disease; Humans; Lysine; Middle Aged; Mutation; Phenotype; Superoxide Dismutase; Superoxide Dismutase-1

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; DNA Mutational Analysis; Exons; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Male; Methionine; Middle Aged; Polymorphism, Single Nucleotide; Receptor Protein-Tyrosine Kinases; Regression Analysis; Reverse Transcriptase Polymerase Chain Reaction; Schizophrenia; Serine; Valine

2007
Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic-related skin lesions.
    Carcinogenesis, 2007, Volume: 28, Issue:8

    Topics: Adult; Amino Acid Substitution; Arsenic; Asparagine; Aspartic Acid; Case-Control Studies; Female; Genetic Predisposition to Disease; Glutamine; Humans; Lysine; Male; Polymorphism, Single Nucleotide; Skin Diseases; Sunburn; Water Supply; Xeroderma Pigmentosum Group D Protein

2007
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 Line; Exons; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Middle Aged; Odds Ratio; Polymorphism, Single Nucleotide; Receptors, LH; Risk Factors; Serine; Survival Analysis

2007
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; Genotype; Glucosylceramidase; Humans; Italy; Leucine; Male; Middle Aged; Mutation; Parkinson Disease; Proline; Serine

2008
The high producer variant of the Fc-receptor like-3 (FCRL3) gene is involved in protection against multiple sclerosis.
    Journal of neuroimmunology, 2008, Volume: 195, Issue:1-2

    Topics: Asparagine; Aspartic Acid; Case-Control Studies; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Linkage Disequilibrium; Male; Multiple Sclerosis; Polymorphism, Single Nucleotide; Receptors, Immunologic; Spain; Statistics, Nonparametric

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 Predisposition to Disease; Genotype; Glucosylceramidase; Humans; Leucine; Lewy Body Disease; Male; Middle Aged; Mutation; Parkinson Disease; Proline; Risk Factors; Serine

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, Hereditary Nonpolyposis; DNA Mismatch Repair; DNA-Binding Proteins; Endometrial Neoplasms; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Glycine; Humans; Immunoprecipitation; MutS Homolog 2 Protein; Pancreatic Neoplasms; Serine; Uncertainty

2008