Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus (Q28587113)

31 January 2017

title

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus (English)

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31 January 2017

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GOA release 2020-03-11

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C. Petit

13

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author name string

E. Verpy

1

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31 January 2017

S. Masmoudi

2

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31 January 2017

I. Zwaenepoel

3

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31 January 2017

M. Leibovici

4

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31 January 2017

T. P. Hutchin

5

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31 January 2017

I. Del Castillo

6

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31 January 2017

S. Nouaille

7

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31 January 2017

S. Blanchard

8

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31 January 2017

S. Lainé

9

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31 January 2017

J. L. Popot

10

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31 January 2017

F. Moreno

11

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31 January 2017

R. F. Mueller

12

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31 January 2017

language of work or name

English

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publication date

1 November 2001

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31 January 2017

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31 January 2017

volume

29

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31 January 2017

issue

3

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31 January 2017

page(s)

345–349

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Molecular genetics of hearing loss

31 January 2017

cites work

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7 January 2021

Identifying differences in mRNA expression by representational difference analysis of cDNA

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7 January 2021

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear

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7 January 2021

Characterization of otoconin-95, the major protein of murine otoconia, provides insights into the formation of these inner ear biominerals

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7 January 2021

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

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7 January 2021

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

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7 January 2021

Targeted disruption of otog results in deafness and severe imbalance

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7 January 2021

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

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7 January 2021

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

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7 January 2021

Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132

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7 January 2021

Interpreting cDNA sequences: some insights from studies on translation

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7 January 2021

A new method for predicting signal sequence cleavage sites

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7 January 2021

On the microassembly of integral membrane proteins

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7 January 2021

Development of the auditory receptors of the rat: a SEM study

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7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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7 January 2021

The detection and classification of membrane-spanning proteins.

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7 January 2021

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex

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7 January 2021

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

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7 January 2021

Identifying nonpolar transbilayer helices in amino acid sequences of membrane proteins

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7 January 2021

Identifiers

DOI

10.1038/NG726

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4165127

Dimensions Publication ID

1031819523

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OpenCitations bibliographic resource ID

4165127

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4165127

1 reference