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CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
Brockschmidt A, Chung B, Weber S, Fischer DC, Kolatsi-Joannou M, Christ L, Heimbach A, Shtiza D, Klaus G, Simonetti GD, Konrad M, Winyard P, Haffner D, Schaefer F, Weber RG. Brockschmidt A, et al. Among authors: chung b. Nephrol Dial Transplant. 2012 Jun;27(6):2355-64. doi: 10.1093/ndt/gfr649. Epub 2011 Dec 6. Nephrol Dial Transplant. 2012. PMID: 22146311 Free article.
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. Li Y, et al. Among authors: chung bd. Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8. Am J Hum Genet. 2010. PMID: 20381006 Free PMC article.
LRP1 in GABAergic neurons is a key link between obesity and memory function.
da Cruz Rodrigues KC, Kim SC, Uner AA, Hou ZS, Young J, Campolim C, Aydogan A, Chung B, Choi A, Yang WM, Kim WS, Prevot V, Caldarone BJ, Lee H, Kim YB. da Cruz Rodrigues KC, et al. Among authors: chung b. Mol Metab. 2024 Apr 16;84:101941. doi: 10.1016/j.molmet.2024.101941. Online ahead of print. Mol Metab. 2024. PMID: 38636794 Free article.
Whole genome sequencing in paediatric channelopathy and cardiomyopathy.
Kwok SY, Kwong AKY, Shi JZ, Shih CFY, Lee M, Mak CCY, Chui M, Tsao S, Chung BHY. Kwok SY, et al. Among authors: chung bhy. Front Cardiovasc Med. 2024 Mar 20;11:1335527. doi: 10.3389/fcvm.2024.1335527. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 38586174 Free PMC article.
2,681 results