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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: belyantseva ia. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman TB. Ben-Yosef T, et al. Among authors: belyantseva ia. Hum Mol Genet. 2003 Aug 15;12(16):2049-61. doi: 10.1093/hmg/ddg210. Hum Mol Genet. 2003. PMID: 12913076
Recent advances in the understanding of syndromic forms of hearing loss.
Friedman TB, Schultz JM, Ben-Yosef T, Pryor SP, Lagziel A, Fisher RA, Wilcox ER, Riazuddin S, Ahmed ZM, Belyantseva IA, Griffith AJ. Friedman TB, et al. Among authors: belyantseva ia. Ear Hear. 2003 Aug;24(4):289-302. doi: 10.1097/01.AUD.0000079804.00047.CE. Ear Hear. 2003. PMID: 12923420 Review. No abstract available.
Stereocilia: the long and the short of it.
Belyantseva IA, Labay V, Boger ET, Griffith AJ, Friedman TB. Belyantseva IA, et al. Trends Mol Med. 2003 Nov;9(11):458-61. doi: 10.1016/j.molmed.2003.09.008. Trends Mol Med. 2003. PMID: 14604820
Genetic insights into the morphogenesis of inner ear hair cells.
Frolenkov GI, Belyantseva IA, Friedman TB, Griffith AJ. Frolenkov GI, et al. Among authors: belyantseva ia. Nat Rev Genet. 2004 Jul;5(7):489-98. doi: 10.1038/nrg1377. Nat Rev Genet. 2004. PMID: 15211351 Review. No abstract available.
71 results