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Page 1
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium. Hendricks AE, et al. Among authors: garg s. Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8. Sci Rep. 2017. PMID: 28663568 Free PMC article.
Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML, Farooqi IS. Ramachandrappa S, et al. Among authors: garg s. J Clin Invest. 2013 Jul;123(7):3042-50. doi: 10.1172/JCI68016. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778139 Free PMC article.
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T, Tops B, Küsters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P, Brown MJ. Azizan EA, et al. Among authors: garg s. Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4. Nat Genet. 2013. PMID: 23913004
KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ; UK10K consortium; O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS. Pearce LR, et al. Among authors: garg s. Cell. 2013 Nov 7;155(4):765-77. doi: 10.1016/j.cell.2013.09.058. Cell. 2013. PMID: 24209692 Free PMC article.
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT. Borman AD, et al. Among authors: garg s. Hum Mutat. 2014 Mar;35(3):289-93. doi: 10.1002/humu.22482. Epub 2013 Dec 20. Hum Mutat. 2014. PMID: 24375934 Free PMC article.
Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1.
Pearce LR, Joe R, Doche ME, Su HW, Keogh JM, Henning E, Argetsinger LS, Bochukova EG, Cline JM, Garg S, Saeed S, Shoelson S, O'Rahilly S, Barroso I, Rui L, Farooqi IS, Carter-Su C. Pearce LR, et al. Among authors: garg s. Endocrinology. 2014 Sep;155(9):3219-26. doi: 10.1210/en.2014-1264. Epub 2014 Jun 27. Endocrinology. 2014. PMID: 24971614 Free PMC article.
Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.
Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA. Asai M, et al. Among authors: garg s. Science. 2013 Jul 19;341(6143):275-8. doi: 10.1126/science.1233000. Science. 2013. PMID: 23869016 Free PMC article.
Regulation of aldosterone secretion by Cav1.3.
Xie CB, Shaikh LH, Garg S, Tanriver G, Teo AE, Zhou J, Maniero C, Zhao W, Kang S, Silverman RB, Azizan EA, Brown MJ. Xie CB, et al. Among authors: garg s. Sci Rep. 2016 Apr 21;6:24697. doi: 10.1038/srep24697. Sci Rep. 2016. PMID: 27098837 Free PMC article.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O'Toole S, Goodchild E, Marker A, Senanayake R, Garg S, Åkerström T, Backman S, Jordan S, Polubothu S, Berney DM, Gluck A, Lines KE, Thakker RV, Tuthill A, Joyce C, Kaski JP, Karet Frankl FE, Metherell LA, Teo AED, Gurnell M, Parvanta L, Drake WM, Wozniak E, Klinzing D, Kuan JL, Tiang Z, Gomez Sanchez CE, Hellman P, Foo RSY, Mein CA, Kinsler VA, Björklund P, Storr HL, Zennaro MC, Brown MJ. Zhou J, et al. Among authors: garg s. Nat Genet. 2021 Sep;53(9):1360-1372. doi: 10.1038/s41588-021-00906-y. Epub 2021 Aug 12. Nat Genet. 2021. PMID: 34385710 Free PMC article.
4,137 results