User profiles for "author:T B Friedman"

Thomas B. Friedman

NIDCD?NIH
Verified email at nidcd.nih.gov
Cited by 21195

Human nonsyndromic sensorineural deafness

TB Friedman, AJ Griffith - Annual review of genomics and …, 2003 - annualreviews.org
Given the unique biological requirements of sound transduction and the selective advantage
conferred upon a species capable of sensitive sound detection, it is not surprising that up to …

Genetic insights into the morphogenesis of inner ear hair cells

GI Frolenkov, IA Belyantseva, TB Friedman… - Nature Reviews …, 2004 - nature.com
The mammalian inner ear is a sensory organ that has specialized hair cells that detect
sound, as well as orientation and movement of the head. The'hair'bundle on the apical …

[HTML][HTML] Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

RJ Morell, HJ Kim, LJ Hood, L Goforth… - … England Journal of …, 1998 - Mass Medical Soc
Background Mutations in the GJB2 gene cause one form of nonsyndromic recessive
deafness. Among Mediterranean Europeans, more than 80 percent of cases of …

[HTML][HTML] Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29

ER Wilcox, QL Burton, S Naz, S Riazuddin, TN Smith… - Cell, 2001 - cell.com
Tight junctions in the cochlear duct are thought to compartmentalize endolymph and provide
structural support for the auditory neuroepithelium. The claudin family of genes is known to …

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

AU Rehman, JE Bird, R Faridi, M Shahzad… - Human …, 2016 - Wiley Online Library
Deafness in humans is a common neurosensory disorder and is genetically heterogeneous.
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the …

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

K Kurima, LM Peters, Y Yang, S Riazuddin… - Nature …, 2002 - nature.com
Positional cloning of hereditary deafness genes is a direct approach to identify molecules
and mechanisms underlying auditory function. Here we report a locus for dominant …

[PDF][PDF] Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

JM Bork, LM Peters, S Riazuddin, SL Bernstein… - The American Journal of …, 2001 - cell.com
Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness
associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously …

Correction of Deafness in shaker-2 Mice by an Unconventional Myosin in a BAC Transgene

FJ Probst, RA Fridell, Y Raphael, TL Saunders, A Wang… - Science, 1998 - science.org
The shaker-2 mouse mutation, the homolog of human DFNB3, causes deafness and circling
behavior. A bacterial artificial chromosome (BAC) transgene from the shaker-2 critical region …

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

A Wang, Y Liang, RA Fridell, FJ Probst, ER Wilcox… - Science, 1998 - science.org
DFNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-
centimorgan interval on human chromosome 17p11. 2, a region that shows conserved …

Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans

O Vahava, R Morell, ED Lynch, S Weiss, ME Kagan… - Science, 1998 - science.org
The molecular basis for autosomal dominant progressive nonsyndromic hearing loss in an
Israeli Jewish family, Family H, has been determined. Linkage analysis placed this deafness …