Compounds > isoleucine

isoleucine and Genetic Predisposition

isoleucine has been researched along with Genetic Predisposition in 74 studies

Research

Studies (74)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (4.05)18.2507
2000's33 (44.59)29.6817
2010's34 (45.95)24.3611
2020's4 (5.41)2.80

Authors

AuthorsStudies
Andreou, AC; Eliopoulos, EE; Goulielmos, GN; Zervou, MI1
Kuttner, CS; Lammert, F; Mancina, R; Stokes, CS; Wagenpfeil, G1
Alhan, A; Beysel, S; Bozkurt, E; Cakal, E; Caliskan, M; Eyerci, N; Hepsen, S; Kan, S; Kizilgul, M; Pinarli, FA1
Cruz, M; Locia-Morales, D; Meyre, D; Sharma, T; Valladares-Salgado, A; Vázquez-Moreno, M; Wacher-Rodarte, N1
Abbas, M; Ahmad, I; Khan, FH; Mahdi, F; Raza, ST; Siddiqi, Z; Verma, S1
Gagnon, F; Kassam, I; Medina-Rivera, A; Morange, PE; Trégouët, DA; Wilson, MD; Zwingerman, N1
Larsson, SC; Markus, HS1
Hamaguchi, T; Hizume, M; Ito, Y; Kitamoto, T; Kobayashi, A; Mizusawa, H; Ohgami, T; Sanjo, N; Satoh, K; Yamada, M; Yokota, T1
An, SSA; Bagyinszky, E; Jeong, JH; Kim, S; Koh, SB; Lee, HM; Van Giau, V1
Darabi, M; Ghaleh, TD; Najafipour, R; Rashvand, Z; Sahmani, M1
Ermolenko, NA; Filipenko, ML; Gareeva, JV; Glushkov, AN; Gordeeva, LA; Simonova, TA; Sokolova, EA; Sutulina, IM; Voronina, EN1
Gong, H; Guan, H; Guo, S; Lang, Z; Liu, B; Liu, L; Wang, H; Zhang, J1
Alexander, D; Alonso, A; Boerwinkle, E; Manolio, TA; Nettleton, JA; Yu, B; Zheng, Y1
Basol, N; Inanir, A; Karakus, N; Yigit, S1
Gharbi, O; Kassab, A; Lakhdar, R; Miled, A; Msolly, A1
Díaz, CA; Monroy, VS; Peralta, JM; Soto, SM; Trenado, LM1
Alcais, A; Beldjord, C; Bouazza, N; Carel, JC; Chabadel, O; Chaussain, C; Courson, F; Davit-Béal, T; Droz, D; Gasse, B; Hennequin, M; Laboux, O; Laffont, AG; Moulis, E; Opsahl Vital, S; Sire, JY; Tassery, H; Treluyer, JM; Vaysse, F1
Abisheva, ST; Henes, JC; Kötter, I; Kuranov, AB; Momynaliev, KT; Müller, CA; Riewerts, F; Steiert, I1
Dong, YL; He, HR; Hu, SS; Lu, J; Ma, Y; Sun, JY; You, HS1
Ling, W; Mijiti, A; Moming, A1
Hu, AM; Liu, HL; Sun, QQ; Wang, Q; Yin, YW1
Han, H; Liu, C; Liu, Z; Wang, X; Xu, Y; Yang, X; Zhang, J1
Askar, T; Mansour, AA; Mergani, A; Mohammed, MA; Mustafa, AM; Saleh, OM; Zahran, RN1
Agúndez, JA; Alonso-Navarro, H; Benito-León, J; García-Martín, E; Jiménez-Jiménez, FJ; Ledesma, MC; López-Alburquerque, T; Martínez, C; Puertas, I; Rubio, L1
Alcina, A; Arnal, C; Delgado, C; Fedetz, M; Fernández, O; Guerrero, M; Leyva, L; Matesanz, F; Ndagire, D1
Hasegawa, K; Kowa, H; Stoessl, AJ; Wszolek, ZK; Yagishita, S; Yokoyama, T1
Adem, A; Al-Haj, M; Awad, S; Bernsen, R; Hassan, AH; Kamal, H; Mohamed, AO; Siddig, A; Zilahi, E1
Bassols, J; Botas, P; Delgado, E; Fernández-Real, JM; Menéndez, JA; Moreno-Navarrete, JM; Ortega, FJ; Pardo, G; Ricart, W; Valdés, S; Vázquez-Martín, A1
Cheng, M; Lindpaintner, K; Liu, L; Liu, X; Ma, L; Ma, X; Peng, Z; Ruan, X; Wang, B; Wang, S; Wang, X; Zhang, J1
Ozturk, A; Vieira, AR1
Gunduz, M; Mita, Y; Naomoto, Y; Ouchida, M; Sakai, A; Shimizu, K; Tanabe, S; Toyooka, S; Yamamoto, H; Yasuda, Y1
Farrer, MJ; Keeling, BH; Rajput, A; Ross, OA; Soto-Ortolaza, AI; Uitti, RJ; Vilariño-Güell, C; Wszolek, ZK1
Doi, H; Kameda, T; Koyano, S; Kuroiwa, Y; Matsumoto, N; Miyaji, Y; Miyatake, S; Sawaishi, Y; Suzuki, Y; Tomita, A1
Bobińska, K; Florkowski, A; Gałecki, P; Pietras, T; Smigielski, J; Szemraj, J1
Alessi, MC; Amouyel, P; Antoni, G; Bertrand, M; Cohen, W; Dupuy, AM; Emmerich, J; Germain, M; Lambert, JC; Lathrop, M; Letenneur, L; Lopez, LM; Morange, PE; Oudot-Mellakh, T; Saut, N; Trégouët, DA1
Anfossi, M; Bernardi, L; Bruni, AC; Bugiani, O; Clodomiro, A; Colao, R; Curcio, SA; Di Lorenzo, R; Frangipane, F; Gallo, M; Geracitano, S; Ghidoni, E; Giaccone, G; Maletta, R; Marcello, N; Mirabelli, M; Muraca, G; Puccio, G; Smirne, N; Tagliavini, F; Vasso, F1
Cao, A; Carta, D; Coiana, A; Faa', V; Puddu, R; Rosatelli, MC1
Bwala, G; Hagenah, J; Hung, AY; Klein, C; Krainc, D; Mazzulli, J; Palada, V; Peterlin, B; Terzić, J1
Biljan, I; Giachin, G; Ilc, G; Legname, G; Plavec, J; Raspadori, A; Zhukov, I1
Dong, JH; Li, HL; Ma, TY; Shi, W; Sun, L; Tian, XP; Wang, JJ; Wang, L; Xu, J; Yu, PB; Zhang, L; Zheng, Y1
Chevessier, F; Girard, E; Krejci, E; McArdle, JJ; Mersdorf, U; Peter, C; Witzemann, V1
Alavantić, D; Dinčić, E; Djurić, T; Stančić, O; Stanković, A; Stojković, L; Veljković, N; Zivković, M1
Alp, E; Arli, B; Irkec, C; Menevse, S; Yilmaz, A1
Ji, YN; Suo, LJ; Wang, Q1
Grimwood, A; Hayes, VM; Laten, A; Petersen, DC; Rensburg, EJ; Zeier, MD1
Emi, N; Hamajima, N; Hirose, K; Hishida, A; Iwata, H; Matsuo, K; Tajima, K1
Reszka, E; Rydzynski, K; Szeszenia-Dabrowska, N; Szymczak, W; Wasowicz, W1
Andreoli, V; Annesi, F; Cittadella, R; Gambardella, A; La Russa, A; Manna, I; Messina, D; Nicoletti, G; Quattrone, A; Romeo, N; Serra, P; Spadafora, P; Zappia, M1
Bartram, CR; Bermejo, JL; Bugert, P; Burwinkel, B; Frank, B; Hemminki, K; Klaes, R; Schmutzler, RK; Wappenschmidt, B; Wirtenberger, M1
Bar Meir, S; Fidder, HH; Figer, A; Friedman, E; Zidan, J1
Kondo, H; Shimomura, I1
Berciano, J; Combarros, O; Infante, J; Llorca, J; Mateo, I; Rodríguez, E1
Honda, H; Honda, Z; Kono, H; Kyogoku, C; Suzuki, T; Tokunaga, K; Tsuchiya, N; Yamamoto, K1
Deichmann, KA; Haider, A; Heinzmann, A; Lau, S; Nickel, R; Niggemann, B; Sengler, C; Wahn, U1
Laine, ML; Morré, SA; Murillo, LS; Peña, AS; van Winkelhoff, AJ1
Cho, H; Choi, BY; Hahn, DS; Ihm, C; Ju, H; Kang, C; Kim, JB; Kim, WH; Kim, YS; Noh, SM1
Cao, Y; Chen, S; Chen, Y; Du, Z; Li, L; Lin, Z; Liu, B; Liu, Z; Wu, Y; Xu, A; Zhang, Y1
Alpert, B; Beckers, S; Eskan, MA; Kinane, DF; Knudsen, TB; Lappin, DF; Shiba, H; Singh, A; Stathopoulou, PG; Waigel, S; Zhao, H1
Cherubini, A; Ercolani, S; Ingegni, T; Mangialasche, F; Mariani, E; Mecocci, P; Metastasio, A; Nocentini, G; Pilotto, A; Senin, U; Seripa, D1
Arnold, N; Bartram, CR; Burwinkel, B; Hemminki, K; Kiechle, M; Meindl, A; Niederacher, D; Schmutzhard, J; Schmutzler, RK; Sutter, C; Wappenschmidt, B; Weber, BH; Wirtenberger, M1
Fujiwara, T; Iai, M; Inoue, Y; Iwamoto, H; Kaneko, S; Kurosawa, K; Mazaki, E; Ogiwara, I; Okamura, N; Osaka, H; Yamada, M; Yamakawa, K; Yamashita, S; Yasui-Furukori, N1
Bullard, JE; Nogee, LM1
Altshuler, D; Bell, DW; Daly, MB; Freedman, ML; Garber, JE; Godwin, AK; Haber, DA; Haiman, CA; Harris, PL; Haserlat, SM; Henderson, BE; Kim, SH; Le Marchand, L; Niendorf, KB; Olopade, OI; Schiripo, TA; Sgroi, DC; Smith, MR; Wahrer, DC1
Jiang, G; Song, S; Wang, L; Xu, L; Zhu, C1
Fukunaka, Y; Hori, H; Hwang, R; Matsumoto, C; Nakamura, J; Naoe, Y; Ohmori, O; Sakata, S; Shimizu, K; Shinkai, T; Utsunomiya, K1
Hou, LA; Hou, MF; Hsieh, PC; Lee, SC; Ma, H; Tsai, LY; Tsai, SM; Wu, SH1
Chen, CH; Chen, JY; Lai, IC; Liao, DL; Liou, YJ; Wang, LH; Wang, YC1
Ashton, K; Bartram, CR; Beesley, J; Brauch, H; Brüning, T; Bugert, P; Burwinkel, B; Chang-Claude, J; Chen, X; Chenevix-Trench, G; Dunning, AM; Easton, DF; Flesch-Janys, D; Fletcher, O; Frank, B; Hamann, U; Hemminki, K; Hopper, JL; Houlston, R; Johnson, N; Justenhoven, C; Kiechle, M; Ko, YD; Kropp, S; Meindl, A; Mutschelknauss, E; Peto, J; Pharoah, PP; Pooley, KA; Salazar, R; Schmutzler, RK; Silva, Idos S; Slanger, T; Spurdle, AB; Sutter, C; Wappenschmidt, B; Webb, E; Wiestler, M1
Goch, JH; Lelonek, M; Matyjaszczyk, M; Pietrucha, T1
Cuajungco, MP; Samie, MA1
Eguchi, H; Hayashi, S; Kawajiri, K; Watanabe, J1
Albu, J; Allison, DB; Burn, P; Chin, W; Deng, N; Duprat, L; Fisher, SL; Franco, LS; Gu, W; Heymsfield, S; Kissebah, A; Kleyn, PW; Lee, J; Maruti, S; Nathan, J; Pi-Sunyer, FX; Tu, Z; Yagaloff, KA1
Chang, KJ; Chern, HD; Hsu, SM; Huang, CS; Shen, CY1
Houlston, RS1

Reviews

12 review(s) available for isoleucine and Genetic Predisposition

ArticleYear
Sex-specific effect of CPB2 Ala147Thr but not Thr325Ile variants on the risk of venous thrombosis: A comprehensive meta-analysis.
    PloS one, 2017, Volume: 12, Issue:5

    Topics: Alanine; Carboxypeptidase B2; Female; Genetic Predisposition to Disease; Humans; Isoleucine; Male; Risk Factors; Sex Factors; Threonine; Venous Thrombosis

2017
Polymorphisms of ERBB2 and breast cancer risk: a meta-analysis of 26 studies involving 35,088 subjects.
    Journal of surgical oncology, 2013, Volume: 108, Issue:6

    Topics: Adult; Aged; Alanine; Alleles; Asian People; Black People; Breast Neoplasms; Case-Control Studies; Female; Genetic Predisposition to Disease; Genotype; Humans; Isoleucine; Middle Aged; Odds Ratio; Polymorphism, Single Nucleotide; Proline; Receptor, ErbB-2; Risk Factors; Valine; White People

2013
Glutathione S-transferase gene polymorphisms and susceptibility to acute myeloid leukemia: meta-analyses.
    Japanese journal of clinical oncology, 2014, Volume: 44, Issue:11

    Topics: Asian People; Genetic Predisposition to Disease; Genotype; Glutathione S-Transferase pi; Glutathione Transferase; Humans; Isoleucine; Leukemia, Myeloid, Acute; Odds Ratio; Polymorphism, Genetic; Risk Factors; Valine; White People

2014
Toll-like receptor 4 gene Asp299Gly and Thr399Ile polymorphisms in type 2 diabetes mellitus: a meta-analysis of 15,059 subjects.
    Diabetes research and clinical practice, 2015, Volume: 107, Issue:3

    Topics: Amino Acid Substitution; Aspartic Acid; Case-Control Studies; Diabetes Mellitus, Type 2; Genetic Predisposition to Disease; Glycine; Humans; Isoleucine; Models, Genetic; Observational Studies as Topic; Polymorphism, Single Nucleotide; Threonine; Toll-Like Receptor 4

2015
TLR4 as a risk factor for periodontal disease: a reappraisal.
    Journal of clinical periodontology, 2009, Volume: 36, Issue:4

    Topics: Aggressive Periodontitis; Alleles; Aspartic Acid; Chronic Periodontitis; Gene Frequency; Genetic Markers; Genetic Predisposition to Disease; Glycine; Humans; Isoleucine; Polymorphism, Single Nucleotide; Risk Factors; Threonine; Toll-Like Receptor 4

2009
CYP1A1 Ile462Val polymorphism and susceptibility to lung cancer: a meta-analysis based on 32 studies.
    European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP), 2011, Volume: 20, Issue:6

    Topics: Asian People; Case-Control Studies; Cytochrome P-450 CYP1A1; Genetic Markers; Genetic Predisposition to Disease; Humans; Isoleucine; Lung Neoplasms; Polymorphism, Genetic; Valine

2011
CYP1A1 Ile462Val polymorphism contributes to lung cancer susceptibility among lung squamous carcinoma and smokers: a meta-analysis.
    PloS one, 2012, Volume: 7, Issue:8

    Topics: Carcinoma, Squamous Cell; Case-Control Studies; Cytochrome P-450 CYP1A1; Exons; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Isoleucine; Lung Neoplasms; Models, Genetic; Odds Ratio; Polymorphism, Genetic; Smoking; Valine

2012
[I164T polymorphism of adiponectin gene in diabetes].
    Nihon rinsho. Japanese journal of clinical medicine, 2005, Volume: 63 Suppl 2

    Topics: Adiponectin; Amino Acid Substitution; Animals; Diabetes Mellitus; Genetic Predisposition to Disease; Humans; Insulin Resistance; Intercellular Signaling Peptides and Proteins; Isoleucine; Mutation, Missense; Threonine

2005
Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis.
    Journal of the National Cancer Institute, 2008, Mar-19, Volume: 100, Issue:6

    Topics: A Kinase Anchor Proteins; Adult; Aged; Alleles; Australia; Breast Neoplasms; Case-Control Studies; Cytoskeletal Proteins; Europe; Female; Genetic Predisposition to Disease; Germany; Humans; Isoleucine; Linkage Disequilibrium; Methionine; Middle Aged; Polymorphism, Single Nucleotide; Research Design; Risk Assessment; Risk Factors; White People

2008
The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.
    Pflugers Archiv : European journal of physiology, 2008, Volume: 457, Issue:2

    Topics: Alanine; Animals; Calcium; Genetic Predisposition to Disease; Genotype; Hair Color; Hearing; Hearing Disorders; Isoleucine; Membrane Potentials; Mice; Mice, Mutant Strains; Models, Molecular; Mutation; Phenotype; Proline; Protein Conformation; Protein Structure, Tertiary; Skin Pigmentation; Threonine; Transient Receptor Potential Channels; TRPM Cation Channels

2008
Genetic polymorphisms of drug-metabolizing enzymes and lung cancer susceptibility.
    Pharmacogenetics, 1995, Volume: 5 Spec No

    Topics: Chromosome Aberrations; Cytochrome P-450 Enzyme System; Deoxyribonuclease HpaII; Genetic Predisposition to Disease; Genotype; Glutathione Transferase; Humans; Isoenzymes; Isoleucine; Lung Neoplasms; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Smoking; Valine

1995
CYP1A1 polymorphisms and lung cancer risk: a meta-analysis.
    Pharmacogenetics, 2000, Volume: 10, Issue:2

    Topics: Adult; Aged; Aged, 80 and over; Cytochrome P-450 CYP1A2; Deoxyribonuclease HpaII; Female; Genetic Predisposition to Disease; Humans; Isoleucine; Leucine; Lung Neoplasms; Male; Middle Aged; Polymorphism, Genetic; Risk Factors

2000

Trials

1 trial(s) available for isoleucine and Genetic Predisposition

ArticleYear
Four-Week Omega-3 Supplementation in Carriers of the Prosteatotic PNPLA3 p.I148M Genetic Variant: An Open-Label Study.
    Lifestyle genomics, 2019, Volume: 12, Issue:1-6

    Topics: Adolescent; Adult; Aged; Amino Acid Substitution; Dietary Supplements; Elasticity Imaging Techniques; Fatty Acids, Omega-3; Fatty Liver; Female; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Isoleucine; Lipase; Loss of Function Mutation; Male; Membrane Proteins; Methionine; Middle Aged; Non-alcoholic Fatty Liver Disease; Polymorphism, Single Nucleotide; Proteostasis; Time Factors; Young Adult

2019

Other Studies

61 other study(ies) available for isoleucine and Genetic Predisposition

ArticleYear
Functional significance of the rare rs35667974
    Autoimmunity, 2022, Volume: 55, Issue:7

    Topics: Arthritis, Psoriatic; Autoantigens; Autoimmune Diseases; Chemokines; DEAD-box RNA Helicases; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Interferon-Induced Helicase, IFIH1; Interferons; Isoleucine; Polymorphism, Genetic; RNA, Viral; Valine

2022
HNF1A gene p.I27L is associated with co-existing preeclampsia in gestational diabetes mellitus.
    Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology, 2020, Volume: 36, Issue:6

    Topics: Adult; Amino Acid Substitution; Case-Control Studies; Comorbidity; Diabetes, Gestational; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Hepatocyte Nuclear Factor 1-alpha; Humans; Isoleucine; Leucine; Polymorphism, Single Nucleotide; Pre-Eclampsia; Pregnancy; Turkey; Young Adult

2020
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
Impact of I/D polymorphism of angiotensin-converting enzyme 1 (ACE1) gene on the severity of COVID-19 patients.
    Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases, 2021, Volume: 91

    Topics: Adult; Age Factors; Aged; Alleles; Amino Acid Substitution; Angiotensin-Converting Enzyme 2; Aspartic Acid; Asymptomatic Diseases; Comorbidity; COVID-19; Diabetes Mellitus; Female; Gene Expression Regulation; Gene Frequency; Genetic Predisposition to Disease; Host-Pathogen Interactions; Humans; Hypertension; India; Isoleucine; Male; Middle Aged; Peptidyl-Dipeptidase A; Polymorphism, Genetic; Risk Factors; SARS-CoV-2; Severity of Illness Index; Survival Analysis

2021
Branched-chain amino acids and Alzheimer's disease: a Mendelian randomization analysis.
    Scientific reports, 2017, 10-19, Volume: 7, Issue:1

    Topics: Alzheimer Disease; Amino Acids, Branched-Chain; DEAD-box RNA Helicases; Genetic Pleiotropy; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Isoleucine; Mendelian Randomization Analysis; Nerve Tissue Proteins; Nucleocytoplasmic Transport Proteins; Odds Ratio; Polymorphism, Single Nucleotide; Protein Phosphatase 2C; Protein Precursors

2017
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene.
    Biochemical and biophysical research communications, 2018, 02-19, Volume: 496, Issue:4

    Topics: Aged, 80 and over; Amino Acid Substitution; Codon; Creutzfeldt-Jakob Syndrome; Female; Genetic Markers; Genetic Predisposition to Disease; Humans; Isoleucine; Male; Neocortex; Prion Proteins; Valine

2018
    International journal of molecular sciences, 2018, Sep-02, Volume: 19, Issue:9

    Topics: Adult; Age of Onset; Alzheimer Disease; Amino Acid Substitution; Female; Genetic Predisposition to Disease; Humans; Hydrogen Bonding; Isoleucine; Male; Middle Aged; Models, Molecular; Pedigree; Presenilin-1; Protein Structure, Secondary; Republic of Korea; Sequence Analysis, DNA; Structural Homology, Protein; Threonine

2018
I405V polymorphism of CETP gene and lipid profile in women with endometriosis.
    Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology, 2013, Volume: 29, Issue:7

    Topics: Adolescent; Adult; Amino Acid Substitution; Case-Control Studies; Cholesterol Ester Transfer Proteins; Cross-Sectional Studies; Endometriosis; Female; Genetic Predisposition to Disease; Humans; Isoleucine; Lipid Metabolism; Lipids; Polymorphism, Single Nucleotide; Uterine Diseases; Valine; Young Adult

2013
Association GSTT1, GSTM1 and GSTP1 (Ile105Val) genetic polymorphisms in mothers with risk of congenital malformations in their children in Western Siberia: a case-control study.
    Prenatal diagnosis, 2013, Volume: 33, Issue:11

    Topics: Adolescent; Adult; Amino Acid Substitution; Case-Control Studies; Congenital Abnormalities; Female; Genetic Association Studies; Genetic Predisposition to Disease; Glutathione S-Transferase pi; Glutathione Transferase; Humans; Infant, Newborn; Isoleucine; Mothers; Polymorphism, Genetic; Pregnancy; Risk Factors; Siberia; Valine; Young Adult

2013
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    Genetic epidemiology, 2013, Volume: 37, Issue:8

    Topics: Acetyltransferases; Alleles; Atherosclerosis; Black or African American; Chromosomes, Human, Pair 2; Chromosomes, Human, Pair 5; Cohort Studies; Fatty Acids, Unsaturated; Female; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Heart Failure; Humans; Incidence; Isoleucine; Leucine; Male; Metabolome; Metabolomics; Middle Aged; Polymorphism, Single Nucleotide; Pyrrolidonecarboxylic Acid; Risk Factors

2013
The importance of association between angiotensin-converting enzyme (ACE) Gene I/D polymorphism and diabetic peripheral neuropathy.
    Gene, 2013, Nov-10, Volume: 530, Issue:2

    Topics: Aged; Alleles; Amino Acid Substitution; Aspartic Acid; Case-Control Studies; Diabetic Neuropathies; Female; Gene Frequency; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hypertension; Isoleucine; Male; Middle Aged; Peptidyl-Dipeptidase A; Polymorphism, Genetic

2013
Polymorphisms of glutathione-S-transferases M1, T1, P1 and susceptibility to colorectal cancer in a sample of the Tunisian population.
    Medical oncology (Northwood, London, England), 2014, Volume: 31, Issue:1

    Topics: Adult; Aged; Alleles; Case-Control Studies; Colorectal Neoplasms; Female; Genetic Predisposition to Disease; Genotype; Glutathione S-Transferase pi; Glutathione Transferase; Humans; Isoleucine; Male; Middle Aged; Polymorphism, Genetic; Tunisia; Valine

2014
Thr130Ile polymorphism of HNF4A gene is associated with gestational diabetes mellitus in Mexican population.
    Journal of investigative medicine : the official publication of the American Federation for Clinical Research, 2014, Volume: 62, Issue:3

    Topics: Adult; Diabetes, Gestational; Female; Genetic Predisposition to Disease; Hepatocyte Nuclear Factor 4; Humans; Infant, Newborn; Isoleucine; Mexico; Polymorphism, Genetic; Population Surveillance; Postpartum Period; Pregnancy; Threonine; Young Adult

2014
Dental caries and enamelin haplotype.
    Journal of dental research, 2014, Volume: 93, Issue:4

    Topics: Amino Acid Substitution; Arginine; Child; Dental Caries; Dental Caries Susceptibility; DMF Index; Exons; Extracellular Matrix Proteins; Female; Gene Frequency; Genetic Predisposition to Disease; Genetic Variation; Glutamine; Haplotypes; Humans; Introns; Isoleucine; Linkage Disequilibrium; Male; Mutation, Missense; Polymorphism, Single Nucleotide; Proteins; Threonine; Young Adult

2014
Behçet's disease in HLA-B*51 negative Germans and Turks shows association with HLA-Bw4-80I.
    Arthritis research & therapy, 2014, May-26, Volume: 16, Issue:3

    Topics: Alleles; Behcet Syndrome; Chi-Square Distribution; Cohort Studies; Gene Frequency; Genetic Predisposition to Disease; Genotype; Germany; HLA-A Antigens; HLA-B Antigens; HLA-B51 Antigen; Humans; Isoleucine; Odds Ratio; Risk Factors; Turkey

2014
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; Cytosine; Exons; Gene Frequency; Genes, Dominant; Genes, Recessive; Genetic Predisposition to Disease; Genotype; Guanine; Haplotypes; Humans; Infant; Interferon Regulatory Factors; Introns; Isoleucine; Linkage Disequilibrium; Mutation, Missense; Polymorphism, Single Nucleotide; Serine; Valine

2015
Association of histamine N-methyltransferase Thr105Ile polymorphism with Parkinson's disease and schizophrenia in Han Chinese: a case-control study.
    PloS one, 2015, Volume: 10, Issue:3

    Topics: Adult; Alleles; Asian People; Case-Control Studies; China; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Histamine; Histamine N-Methyltransferase; Humans; Isoleucine; Male; Parkinson Disease; Polymorphism, Genetic; Schizophrenia; Threonine

2015
Glutathione S-Transferase Pi-Ile 105 Val Polymorphism and Susceptibility to T2DM in Population from Turabah Region of Saudi Arabia.
    Biochemical genetics, 2016, Volume: 54, Issue:4

    Topics: Adult; Aged; Amplified Fragment Length Polymorphism Analysis; Case-Control Studies; Diabetes Mellitus, Type 2; Female; Gene Frequency; Genetic Predisposition to Disease; Glutathione S-Transferase pi; Humans; Isoleucine; Middle Aged; Polymorphism, Single Nucleotide; Saudi Arabia; Valine

2016
The nonsynonymous Thr105Ile polymorphism of the histamine N-methyltransferase is associated to the risk of developing essential tremor.
    Neuromolecular medicine, 2008, Volume: 10, Issue:4

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Brain Chemistry; Child; Child, Preschool; DNA Mutational Analysis; Essential Tremor; Female; Genetic Predisposition to Disease; Genetic Testing; Histamine N-Methyltransferase; Humans; Isoleucine; Male; Middle Aged; Polymorphism, Genetic; Threonine; Young Adult

2008
The T244I variant of the interleukin-7 receptor-alpha gene and multiple sclerosis.
    Tissue antigens, 2008, Volume: 72, Issue:2

    Topics: Case-Control Studies; Gene Frequency; Genetic Predisposition to Disease; Humans; Interleukin-7 Receptor alpha Subunit; Isoleucine; Multiple Sclerosis; Polymorphism, Single Nucleotide; Spain; Threonine; White People

2008
Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes.
    Parkinsonism & related disorders, 2009, Volume: 15, Issue:4

    Topics: 3-Iodobenzylguanidine; Adult; Aged; Aged, 80 and over; DNA Mutational Analysis; Family Health; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Isoleucine; Japan; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; Male; Middle Aged; Mutation; Parkinsonian Disorders; Positron-Emission Tomography; Protein Serine-Threonine Kinases; Radiopharmaceuticals; Tetrabenazine; Tyrosine

2009
HER-2/neu Ile655Val polymorphism and the risk of breast cancer.
    Annals of the New York Academy of Sciences, 2008, Volume: 1138

    Topics: Breast Neoplasms; Case-Control Studies; Female; Genes, erbB-2; Genetic Predisposition to Disease; Humans; Isoleucine; Middle Aged; Polymerase Chain Reaction; Polymorphism, Genetic; Proto-Oncogene Mas; Risk Factors; Valine

2008
Val1483Ile in FASN gene is linked to central obesity and insulin sensitivity in adult white men.
    Obesity (Silver Spring, Md.), 2009, Volume: 17, Issue:9

    Topics: Adipose Tissue; Adiposity; Adult; Age Factors; Blood Glucose; Blood Pressure; Body Mass Index; Case-Control Studies; Down-Regulation; Fatty Acid Synthase, Type I; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Insulin Resistance; Isoleucine; Male; Middle Aged; Obesity; Phenotype; Polymorphism, Single Nucleotide; Risk Factors; Sex Factors; Time Factors; Valine; Waist-Hip Ratio; Weight Gain

2009
TAQIB and I405V polymorphisms of CETP are moderately associated with obesity risk in the Chinese adult population.
    Acta diabetologica, 2010, Volume: 47, Issue:3

    Topics: Adult; Amino Acid Substitution; Asian People; Case-Control Studies; Cholesterol Ester Transfer Proteins; Deoxyribonucleases, Type II Site-Specific; Female; Genetic Predisposition to Disease; Genetics, Population; Humans; Isoleucine; Male; Middle Aged; Obesity; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Risk; Valine

2010
Missense polymorphisms of PTPRJ and PTPN13 genes affect susceptibility to a variety of human cancers.
    Journal of cancer research and clinical oncology, 2010, Volume: 136, Issue:2

    Topics: Adult; Aged; Aged, 80 and over; Arginine; Biomarkers, Tumor; Case-Control Studies; Colorectal Neoplasms; Esophageal Neoplasms; Female; Genetic Predisposition to Disease; Genotype; Glutamine; Head and Neck Neoplasms; Humans; Incidence; Isoleucine; Japan; Lung Neoplasms; Male; Methionine; Middle Aged; Neoplasms; Polymorphism, Single Nucleotide; Proline; Protein Tyrosine Phosphatase, Non-Receptor Type 13; Receptor-Like Protein Tyrosine Phosphatases, Class 3; Risk Factors

2010
Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor.
    Parkinsonism & related disorders, 2010, Volume: 16, Issue:2

    Topics: Adult; Aged; Aged, 80 and over; Essential Tremor; Female; Gene Frequency; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Histamine N-Methyltransferase; Humans; Isoleucine; Male; Middle Aged; Parkinson Disease; Polymorphism, Genetic; Psychiatric Status Rating Scales; Threonine

2010
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 Mutational Analysis; Female; Genetic Predisposition to Disease; Genetic Testing; Genotype; Glycopeptides; Humans; Isoleucine; Male; Middle Aged; Mutation; Organotechnetium Compounds; Pantothenate Kinase-Associated Neurodegeneration; Phosphotransferases (Alcohol Group Acceptor); Serine; Siblings; Tomography, Emission-Computed, Single-Photon

2010
Analysis of two polymorphisms of the manganese superoxide dismutase gene (Ile-58Thr and Ala-9Val) in patients with recurrent depressive disorder.
    Psychiatry research, 2010, Aug-30, Volume: 179, Issue:1

    Topics: Alanine; Amino Acids; Case-Control Studies; Depression; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Isoleucine; Male; Middle Aged; Polymorphism, Genetic; Sex Factors; Superoxide Dismutase; Threonine; Valine

2010
KNG1 Ile581Thr and susceptibility to venous thrombosis.
    Blood, 2011, Mar-31, Volume: 117, Issue:13

    Topics: Alleles; Amino Acid Substitution; Case-Control Studies; Female; Gene Frequency; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Isoleucine; Kininogens; Male; Polymorphism, Single Nucleotide; Threonine; Venous Thrombosis

2011
A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.
    Journal of Alzheimer's disease : JAD, 2011, Volume: 25, Issue:3

    Topics: Aged; Alzheimer Disease; Amyloid beta-Peptides; Brain; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Disease; Humans; Isoleucine; Male; Mental Status Schedule; Middle Aged; Mutation; Phenotype; Presenilin-1; Valine

2011
Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.
    Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2011, Volume: 10, Issue:3

    Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Gene Deletion; Gene Frequency; Genetic Carrier Screening; Genetic Predisposition to Disease; Genetic Testing; Homozygote; Humans; Isoleucine; Italy; Male; Mutation; Phenylalanine; Pilot Projects; Threonine

2011
Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease.
    Neurobiology of aging, 2012, Volume: 33, Issue:4

    Topics: Asian People; Case-Control Studies; Chi-Square Distribution; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Histamine N-Methyltransferase; Humans; Isoleucine; Male; Meta-Analysis as Topic; Parkinson Disease; Polymorphism, Single Nucleotide; Threonine; White People

2012
Toward the molecular basis of inherited prion diseases: NMR structure of the human prion protein with V210I mutation.
    Journal of molecular biology, 2011, Sep-30, Volume: 412, Issue:4

    Topics: Amino Acid Sequence; Amino Acid Substitution; Genetic Predisposition to Disease; Humans; Hydrophobic and Hydrophilic Interactions; Isoleucine; Models, Molecular; Molecular Sequence Data; Mutation, Missense; Nuclear Magnetic Resonance, Biomolecular; Prion Diseases; Prions; Protein Folding; Protein Structure, Secondary; Protein Structure, Tertiary; Signal Transduction; Valine

2011
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.
    Neurobiology of disease, 2012, Volume: 45, Issue:3

    Topics: Acetylcholinesterase; Aminophenols; Animals; Biophysics; Diaphragm; Disease Models, Animal; Gene Expression Regulation; Genetic Predisposition to Disease; Hand Strength; Humans; In Vitro Techniques; Isoleucine; Mice; Mice, Transgenic; Microscopy, Electron, Transmission; Miniature Postsynaptic Potentials; Motor Endplate; Mutagenesis; Myasthenic Syndromes, Congenital; Neurofilament Proteins; Neuromuscular Junction; Patch-Clamp Techniques; Phenylalanine; Receptors, Nicotinic; S100 Proteins; Synaptophysin; Time Factors

2012
The association of V249I and T280M fractalkine receptor haplotypes with disease course of multiple sclerosis.
    Journal of neuroimmunology, 2012, Volume: 245, Issue:1-2

    Topics: Adult; CX3C Chemokine Receptor 1; Female; Genetic Predisposition to Disease; Haplotypes; Humans; Isoleucine; Male; Methionine; Middle Aged; Multiple Sclerosis, Chronic Progressive; Multiple Sclerosis, Relapsing-Remitting; Polymorphism, Genetic; Receptors, Chemokine; Threonine; Valine

2012
Fractalkine gene receptor polymorphism in patients with multiple sclerosis.
    The International journal of neuroscience, 2013, Volume: 123, Issue:1

    Topics: Adolescent; Adult; Age of Onset; Analysis of Variance; Chemokine CX3CL1; Disability Evaluation; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Genotype; Humans; Isoleucine; Male; Methionine; Middle Aged; Multiple Sclerosis; Polymorphism, Single Nucleotide; Statistics, Nonparametric; Threonine; Valine; Young Adult

2013
Novel mutations and SNPs identified in CCR2 using a new comprehensive denaturing gradient gel electrophoresis assay.
    Human mutation, 2002, Volume: 20, Issue:4

    Topics: Amino Acid Substitution; Cohort Studies; Electrophoresis, Polyacrylamide Gel; Female; Genetic Predisposition to Disease; Genetic Variation; HIV Infections; HIV Seronegativity; HIV Seropositivity; HIV-1; Humans; Isoleucine; Male; Mutation; Nucleic Acid Denaturation; Polymorphism, Single Nucleotide; Receptors, CCR2; Receptors, Chemokine; Valine

2002
Re: Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk.
    Journal of the National Cancer Institute, 2002, Dec-04, Volume: 94, Issue:23

    Topics: Alleles; Asian People; Breast Neoplasms; Case-Control Studies; Female; Genes, erbB-2; Genetic Predisposition to Disease; Genotype; Humans; Isoleucine; Japan; Odds Ratio; Polymorphism, Genetic; Population Surveillance; Receptor, ErbB-2; Risk Assessment; Risk Factors; Valine

2002
Glutathione S-transferase M1 and P1 metabolic polymorphism and lung cancer predisposition.
    Neoplasma, 2003, Volume: 50, Issue:5

    Topics: Adenocarcinoma; Carcinoma, Non-Small-Cell Lung; Carcinoma, Small Cell; Carcinoma, Squamous Cell; Female; Gene Deletion; Genetic Predisposition to Disease; Genotype; Glutathione S-Transferase pi; Glutathione Transferase; Humans; Isoenzymes; Isoleucine; Lung Neoplasms; Male; Mutation, Missense; Occupational Exposure; Poland; Polymorphism, Genetic; Risk Factors; Smoking; Valine

2003
Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms.
    Archives of neurology, 2004, Volume: 61, Issue:3

    Topics: Age of Onset; Aged; alpha-Macroglobulins; Alzheimer Disease; Apolipoproteins E; Case-Control Studies; Chi-Square Distribution; Confidence Intervals; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Isoleucine; Italy; Male; Middle Aged; Odds Ratio; Peroxidase; Polymerase Chain Reaction; Polymorphism, Genetic; Risk; Valine

2004
The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk.
    Carcinogenesis, 2005, Volume: 26, Issue:3

    Topics: Adult; Aged; Aged, 80 and over; Breast Neoplasms; Case-Control Studies; Female; Genes, erbB-2; Genetic Carrier Screening; Genetic Predisposition to Disease; Humans; Isoleucine; Middle Aged; Polymerase Chain Reaction; Proto-Oncogene Mas; Risk Factors; Valine

2005
Colonic adenomas do not cosegregate with the I1307K APC missense mutation in an Israeli non-Ashkenazi family.
    Digestive diseases and sciences, 2005, Volume: 50, Issue:1

    Topics: Adenoma; Adenomatous Polyposis Coli; Aged; Chromosome Segregation; Colonic Neoplasms; Female; Genes, APC; Genetic Predisposition to Disease; Humans; Isoleucine; Israel; Jews; Lysine; Male; Middle Aged; Mutation, Missense; Pedigree

2005
Cholesteryl ester transfer protein (CETP) polymorphism modifies the Alzheimer's disease risk associated with APOE epsilon4 allele.
    Journal of neurology, 2006, Volume: 253, Issue:2

    Topics: Aged; Aged, 80 and over; Alleles; Alzheimer Disease; Apolipoprotein E4; Apolipoproteins E; Carrier Proteins; Cholesterol Ester Transfer Proteins; Confidence Intervals; DNA Mutational Analysis; Exons; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Glycoproteins; Humans; Isoleucine; Male; Middle Aged; Odds Ratio; Polymorphism, Genetic; Promoter Regions, Genetic; Retrospective Studies; Risk Factors; Spain; Valine

2006
FcgammaRIIB Ile232Thr transmembrane polymorphism associated with human systemic lupus erythematosus decreases affinity to lipid rafts and attenuates inhibitory effects on B cell receptor signaling.
    Human molecular genetics, 2005, Oct-01, Volume: 14, Issue:19

    Topics: Amino Acid Sequence; Amino Acid Substitution; Antigens, CD; B-Lymphocytes; Calcium Signaling; Cells, Cultured; Genetic Predisposition to Disease; Humans; Isoleucine; Lupus Erythematosus, Systemic; Membrane Microdomains; Molecular Sequence Data; Phosphatidylinositol Phosphates; Polymorphism, Genetic; Receptors, Antigen, B-Cell; Receptors, IgG; Signal Transduction; Threonine

2005
Association study of Glutathione S-transferase P1 (GSTP1) with asthma and bronchial hyper-responsiveness in two German pediatric populations.
    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2005, Volume: 16, Issue:6

    Topics: Adolescent; Alanine; Asthma; Bronchial Hyperreactivity; Child; Child, Preschool; Dermatitis, Atopic; Follow-Up Studies; Forced Expiratory Volume; Gene Frequency; Genetic Predisposition to Disease; Genotype; Germany; Glutathione S-Transferase pi; Humans; Isoleucine; Polymorphism, Genetic; Respiratory Function Tests; Rhinitis, Allergic, Perennial; Valine

2005
CD14 and TLR4 gene polymorphisms in adult periodontitis.
    Journal of dental research, 2005, Volume: 84, Issue:11

    Topics: Adult; Age Factors; Aged; Aggregatibacter actinomycetemcomitans; Aspartic Acid; Cytosine; Disease Susceptibility; Female; Genetic Predisposition to Disease; Glycine; Humans; Isoleucine; Lipopolysaccharide Receptors; Male; Middle Aged; Periodontitis; Polymorphism, Genetic; Porphyromonas gingivalis; Sex Factors; Smoking; Threonine; Thymine; Toll-Like Receptor 4

2005
Functional polymorphism 57Val>Ile of aurora kinase A associated with increased risk of gastric cancer progression.
    Cancer letters, 2006, Oct-28, Volume: 242, Issue:2

    Topics: Alleles; Aurora Kinase A; Aurora Kinases; Case-Control Studies; Disease Progression; Genetic Predisposition to Disease; Genotype; Haplotypes; Humans; Isoleucine; Odds Ratio; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Protein Serine-Threonine Kinases; Risk; Stomach Neoplasms; Valine

2006
Polymorphic amino acids at codons 9 and 37 of HLA-DQB1 alleles may confer susceptibility to cervical cancer among Chinese women.
    International journal of cancer, 2006, Jun-15, Volume: 118, Issue:12

    Topics: Amino Acid Sequence; Amino Acids; Aspartic Acid; Case-Control Studies; China; Codon; DNA, Viral; Female; Gene Frequency; Genetic Predisposition to Disease; HLA-DQ Antigens; HLA-DQ beta-Chains; Human papillomavirus 16; Humans; Isoleucine; Leucine; Papillomavirus Infections; Phenylalanine; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Sequence Analysis, DNA; Tyrosine; Uterine Cervical Neoplasms

2006
Gingival epithelial cells heterozygous for Toll-like receptor 4 polymorphisms Asp299Gly and Thr399ile are hypo-responsive to Porphyromonas gingivalis.
    Genes and immunity, 2006, Volume: 7, Issue:3

    Topics: Amino Acid Substitution; Aspartic Acid; Cells, Cultured; Gene Expression Profiling; Genetic Predisposition to Disease; Gingiva; Glycine; Heterozygote; Humans; Isoleucine; Polymorphism, Genetic; Porphyromonas gingivalis; Threonine; Toll-Like Receptor 4; Toll-Like Receptors

2006
Interaction of CTSD and A2M polymorphisms in the risk for Alzheimer's disease.
    Journal of the neurological sciences, 2006, Sep-25, Volume: 247, Issue:2

    Topics: Aged; Aged, 80 and over; Alanine; alpha-Macroglobulins; Alzheimer Disease; Cathepsin D; DNA Mutational Analysis; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Isoleucine; Male; Odds Ratio; Polymorphism, Genetic; Risk; Valine

2006
The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.
    Carcinogenesis, 2007, Volume: 28, Issue:2

    Topics: A Kinase Anchor Proteins; Adaptor Proteins, Signal Transducing; Base Sequence; Breast Neoplasms; Cohort Studies; DNA Primers; Genetic Predisposition to Disease; Genetic Variation; Humans; Isoleucine; Risk Factors; Valine

2007
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
    Epilepsy research, 2007, Volume: 75, Issue:1

    Topics: Adult; Child; DNA Mutational Analysis; Epilepsy; Female; Genetic Predisposition to Disease; Humans; Isoleucine; Male; Mutation; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Pedigree; Phenotype; Sodium Channels; Valine

2007
Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.
    Pediatric research, 2007, Volume: 62, Issue:2

    Topics: Amino Acid Substitution; ATP-Binding Cassette Transporters; Child, Preschool; Codon; DNA Mutational Analysis; Female; Fetal Diseases; Genetic Predisposition to Disease; Gestational Age; Heterozygote; Humans; Infant; Isoleucine; Lung Diseases, Interstitial; Male; Mutation; Pedigree; Phenotype; Pulmonary Surfactant-Associated Protein C; Severity of Illness Index; Threonine

2007
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.
    International journal of cancer, 2007, Dec-15, Volume: 121, Issue:12

    Topics: Adult; Age of Onset; Aged; Asian People; Black or African American; Breast Neoplasms; Case-Control Studies; Checkpoint Kinase 2; DNA Mutational Analysis; DNA, Complementary; Female; Gene Frequency; Genetic Predisposition to Disease; Germ-Line Mutation; Hawaii; Hispanic or Latino; Histidine; Humans; Isoleucine; Leucine; Male; Middle Aged; Mutation; Mutation, Missense; Predictive Value of Tests; Proline; Prostatic Neoplasms; Protein Serine-Threonine Kinases; Risk Assessment; Risk Factors; Threonine; Tyrosine; United States; White People

2007
Association study of human MTH1 Ile45Thr polymorphism with sporadic Parkinson's disease.
    European neurology, 2008, Volume: 59, Issue:1-2

    Topics: Aged; Aged, 80 and over; Chi-Square Distribution; China; DNA Repair Enzymes; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Isoleucine; Male; Middle Aged; Parkinson Disease; Phosphoric Monoester Hydrolases; Polymorphism, Genetic; Reverse Transcriptase Polymerase Chain Reaction; Sex Factors; Threonine

2008
The orexin 1 receptor (HCRTR1) gene as a susceptibility gene contributing to polydipsia-hyponatremia in schizophrenia.
    Neuromolecular medicine, 2007, Volume: 9, Issue:4

    Topics: Adult; Age of Onset; Aged; Amino Acid Substitution; Female; Genetic Predisposition to Disease; Genotype; Humans; Hyponatremia; Isoleucine; Male; Middle Aged; Orexin Receptors; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Receptors, G-Protein-Coupled; Receptors, Neuropeptide; Schizophrenia; Thirst; Valine

2007
A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan.
    Clinical biochemistry, 2008, Volume: 41, Issue:3

    Topics: Adult; Age Factors; Breast Neoplasms; Case-Control Studies; Female; Genes, erbB-2; Genetic Predisposition to Disease; Genotype; Humans; Isoleucine; Middle Aged; Neoplasm Staging; Odds Ratio; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Reference Values; Risk Factors; Taiwan; Valine

2008
Association of missense variants of the PRKC, apoptosis, WT1, regulator (PAWR) gene with schizophrenia.
    Progress in neuro-psychopharmacology & biological psychiatry, 2008, Apr-01, Volume: 32, Issue:3

    Topics: 5' Untranslated Regions; Adult; Apoptosis Regulatory Proteins; Arginine; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Humans; Isoleucine; Male; Methionine; Middle Aged; Mutation, Missense; Polymorphism, Genetic; Proline; Schizophrenia; Sex Factors; Taiwan

2008
Mutation T/C,Ile 131 of the gene encoding the alfa subunit of the human Gs protein and predisposition to vasovagal syncope.
    Circulation journal : official journal of the Japanese Circulation Society, 2008, Volume: 72, Issue:4

    Topics: Adult; Base Sequence; Blood Pressure; Chromogranins; Codon; Deoxyribonucleases, Type II Site-Specific; DNA Primers; Female; Genetic Predisposition to Disease; Genotype; GTP-Binding Protein alpha Subunits, Gs; Humans; Isoleucine; Male; Middle Aged; Point Mutation; Polymorphism, Single Nucleotide; Syncope, Vasovagal; Tilt-Table Test

2008
Identification and functional analysis of novel human melanocortin-4 receptor variants.
    Diabetes, 1999, Volume: 48, Issue:3

    Topics: Adolescent; Adult; Amino Acid Substitution; Animals; Body Mass Index; Cloning, Molecular; Diabetes Mellitus; Diabetes Mellitus, Type 2; Female; Genetic Predisposition to Disease; Genetic Variation; Genotype; Humans; Isoleucine; Male; Methionine; Mice; Middle Aged; Obesity; Pedigree; Polymorphism, Single-Stranded Conformational; Receptor, Melanocortin, Type 4; Receptors, Peptide; Recombinant Proteins; Threonine; Valine

1999
Cytochrome P4501A1 polymorphism as a susceptibility factor for breast cancer in postmenopausal Chinese women in Taiwan.
    British journal of cancer, 1999, Volume: 80, Issue:11

    Topics: Amino Acid Substitution; Asian People; Body Mass Index; Breast Neoplasms; China; Contraceptives, Oral; Cytochrome P-450 CYP1A1; Estrogen Replacement Therapy; Exons; Female; Genetic Carrier Screening; Genetic Predisposition to Disease; Genetic Variation; Humans; Incidence; Isoleucine; Menarche; Middle Aged; Parity; Polymorphism, Genetic; Pregnancy; Risk Factors; Smoking; Taiwan; Valine

1999