Boger E - Search Results

1

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

Nal N, Ahmed ZM, Erkal E, Alper OM, Lüleci G, Dinç O, Waryah AM, Ain Q, Tasneem S, Husnain T, Chattaraj P, Riazuddin S, Boger E, Ghosh M, Kabra M, Riazuddin S, Morell RJ, Friedman TB. Nal N, et al. Among authors: boger e. Hum Mutat. 2007 Oct;28(10):1014-9. doi: 10.1002/humu.20556. Hum Mutat. 2007. PMID: 17546645

2

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB. Riazuddin S, et al. Among authors: boger et. Hum Mutat. 2008 Apr;29(4):502-11. doi: 10.1002/humu.20677. Hum Mutat. 2008. PMID: 18181211

3

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB. Rehman AU, et al. Am J Hum Genet. 2010 Mar 12;86(3):378-88. doi: 10.1016/j.ajhg.2010.01.030. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170899 Free PMC article.

4

DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.

Friedman TB, Hinnant JT, Ghosh M, Boger ET, Riazuddin S, Lupski JR, Potocki L, Wilcox ER. Friedman TB, et al. Adv Otorhinolaryngol. 2002;61:124-30. doi: 10.1159/000066824. Adv Otorhinolaryngol. 2002. PMID: 12408074

5

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

6

Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle.

Belyantseva IA, Boger ET, Friedman TB. Belyantseva IA, et al. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):13958-63. doi: 10.1073/pnas.2334417100. Epub 2003 Nov 10. Proc Natl Acad Sci U S A. 2003. PMID: 14610277 Free PMC article.

7

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.

Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, Griffith AJ, Friedman TB. Belyantseva IA, et al. Nat Cell Biol. 2005 Feb;7(2):148-56. doi: 10.1038/ncb1219. Epub 2005 Jan 16. Nat Cell Biol. 2005. PMID: 15654330

8

Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.

Nakano Y, Kelly MC, Rehman AU, Boger ET, Morell RJ, Kelley MW, Friedman TB, Bánfi B. Nakano Y, et al. Cell. 2018 Jul 26;174(3):536-548.e21. doi: 10.1016/j.cell.2018.06.004. Epub 2018 Jun 28. Cell. 2018. PMID: 29961578 Free PMC article.

9

Human myosin XVBP is a transcribed pseudogene.

Boger ET, Sellers JR, Friedman TB. Boger ET, et al. J Muscle Res Cell Motil. 2001;22(5):477-83. doi: 10.1023/a:1014507705858. J Muscle Res Cell Motil. 2001. PMID: 11964073

10

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.

Peters LM, Fridell RA, Boger ET, San Agustin TB, Madeo AC, Griffith AJ, Friedman TB, Morell RJ. Peters LM, et al. Among authors: boger et. Clin Genet. 2008 Apr;73(4):367-72. doi: 10.1111/j.1399-0004.2008.00966.x. Epub 2008 Feb 13. Clin Genet. 2008. PMID: 18279434

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