Below are the most recent publications written about "Genetic Association Studies" by people in Profiles.
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Lane BM, Chryst-Stangl M, Wu G, Shalaby M, El Desoky S, Middleton CC, Huggins K, Sood A, Ochoa A, Malone AF, Vancini R, Miller SE, Hall G, Kim SY, Howell DN, Kari JA, Gbadegesin R. Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis. JCI Insight. 2022 01 25; 7(2).
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Goyal S, Tanigawa Y, Zhang W, Chai JF, Almeida M, Sim X, Lerner M, Chainakul J, Ramiu JG, Seraphin C, Apple B, Vaughan A, Muniu J, Peralta J, Lehman DM, Ralhan S, Wander GS, Singh JR, Mehra NK, Sidorov E, Peyton MD, Blackett PR, Curran JE, Tai ES, van Dam R, Cheng CY, Duggirala R, Blangero J, Chambers JC, Sabanayagam C, Kooner JS, Rivas MA, Aston CE, Sanghera DK. APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups. Lipids Health Dis. 2021 Sep 21; 20(1):113.
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Li S, Wang X, Zhao Y, Yang J, Cui T, Zhao ZJ, Chen Y, Zheng Z. Association of PTPN22-C1858T Polymorphism With Susceptibility to Mycobacterium tuberculosis and Mycobacterium leprae Infection: A Meta-Analysis. Front Immunol. 2021; 12:592841.
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Sapkota BR, Sanghera DK. A rare missense variant in the milk fat globule-EGF factor 8 (MFGE8) increases T2DM susceptibility and cardiovascular disease risk with population-specific effects. Acta Diabetol. 2020 Jun; 57(6):733-741.
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Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum Mutat. 2020 03; 41(3):591-599.
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Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
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Thadathil N, Hori R, Xiao J, Khan MM. DNA double-strand breaks: a potential therapeutic target for neurodegenerative diseases. Chromosome Res. 2019 12; 27(4):345-364.
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Ofman G, Caballero MT, Alvarez Paggi D, Marzec J, Nowogrodzki F, Cho HY, Sorgetti M, Colantonio G, Bianchi A, Prudent LM, Vain N, Mariani G, Digregorio J, Turconi EL, Osio C, Galletti F, Quiros M, Brum A, Lopez Garcia S, Garcia S, Bell D, Jones MH, Tipple TE, Kleeberger SR, Polack FP. The discovery BPD (D-BPD) program: study protocol of a prospective translational multicenter collaborative study to investigate determinants of chronic lung disease in very low birth weight infants. BMC Pediatr. 2019 07 06; 19(1):227.
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Passan S, Goyal S, Bhat MA, Singh D, Vanita V. Association of TNF-a gene alterations (c.-238G>A, c.-308G>A, c.-857C>T, c.-863C>A) with primary glaucoma in north Indian cohort. Gene. 2019 Aug 15; 709:25-35.
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Asfari A, Dent JA, Corken A, Herington D, Kaliki V, Sra N, Hefley G, Pasala S, Prodhan P, Ware J. Platelet Glycoprotein VI Haplotypes and the Presentation of Paediatric Sepsis. Thromb Haemost. 2019 Mar; 119(3):431-438.