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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Nguyen Galván NT, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Ma M, et al. Among authors: leduc ca. Genet Med. 2024 Jul;26(7):101125. doi: 10.1016/j.gim.2024.101125. Epub 2024 Mar 21. Genet Med. 2024. PMID: 38522068
Regulation of Fto/Ftm gene expression in mice and humans.
Stratigopoulos G, Padilla SL, LeDuc CA, Watson E, Hattersley AT, McCarthy MI, Zeltser LM, Chung WK, Leibel RL. Stratigopoulos G, et al. Among authors: leduc ca. Am J Physiol Regul Integr Comp Physiol. 2008 Apr;294(4):R1185-96. doi: 10.1152/ajpregu.00839.2007. Epub 2008 Feb 6. Am J Physiol Regul Integr Comp Physiol. 2008. PMID: 18256137 Free PMC article.
Functional consequences of the human leptin receptor (LEPR) Q223R transversion.
Stratigopoulos G, LeDuc CA, Matsuoka N, Gutman R, Rausch R, Robertson SA, Myers MG Jr, Chung WK, Chua SC Jr, Leibel RL. Stratigopoulos G, et al. Among authors: leduc ca. Obesity (Silver Spring). 2009 Jan;17(1):126-35. doi: 10.1038/oby.2008.489. Epub 2008 Nov 6. Obesity (Silver Spring). 2009. PMID: 18997673 Free PMC article.
Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling.
Stratigopoulos G, LeDuc CA, Cremona ML, Chung WK, Leibel RL. Stratigopoulos G, et al. Among authors: leduc ca. J Biol Chem. 2011 Jan 21;286(3):2155-70. doi: 10.1074/jbc.M110.188482. Epub 2010 Oct 31. J Biol Chem. 2011. PMID: 21037323 Free PMC article.
De novo copy number variants are associated with congenital diaphragmatic hernia.
Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK. Yu L, et al. Among authors: leduc ca. J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135. J Med Genet. 2012. PMID: 23054247 Free PMC article.
82 results