Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. (Q36365707)

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16 February 2020

title

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss (English)

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16 February 2020

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Suna Tokgöz Yilmaz

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Moien Kanaan

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Yvonne J. Edwards

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Mustafa Tekin

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Lisette Hetterschijt

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Hannie Kremer

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Margit Schraders

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Jaap Oostrik

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16 February 2020

author name string

Kemal O Yariz

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Duygu Duman

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Celia Zazo Seco

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Julia Dallman

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Mingqian Huang

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Asli Sirmaci

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Na Lu

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Isaac Skromne

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Oscar Diaz-Horta

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Juan I Young

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Ozlem Konukseven

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Hashem Shahin

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Anne M M Oonk

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Huawei Li

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Semra Atalay

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Susan Blanton

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Alexandra A Desmidt

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Xue-Zhong Liu

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Ronald J E Pennings

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Zhongmin Lu

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Zheng-Yi Chen

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language of work or name

English

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publication date

1 November 2012

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American Journal of Human Genetics

16 February 2020

published in

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volume

91

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16 February 2020

issue

5

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16 February 2020

page(s)

872-882

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Hereditary hearing loss: from human mutation to mechanism

16 February 2020

cites work

1 reference

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30 September 2017

1 reference

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A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss

30 September 2017

1 reference

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Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487139

ATP8B1 is essential for maintaining normal hearing

30 September 2017

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

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Diverse expression patterns of LIM-homeodomain transcription factors (LIM-HDs) in mammalian inner ear development

30 September 2017

1 reference

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Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.

30 September 2017

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Newborn hearing screening--a silent revolution

30 September 2017

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TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells

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Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells

30 September 2017

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Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs

30 September 2017

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Extracellular matrices associated with the apical surfaces of sensory epithelia in the inner ear: Molecular and structural diversity

30 September 2017

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

30 September 2017

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Cochlear mechanisms from a phylogenetic viewpoint

30 September 2017

1 reference

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Targeted disruption of otog results in deafness and severe imbalance

30 September 2017

1 reference

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

30 September 2017

1 reference

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Early ear development in the embryo of the zebrafish, Danio rerio

30 September 2017

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Parametric and nonparametric linkage analysis: a unified multipoint approach

30 September 2017

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Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey

30 September 2017

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28 June 2018

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Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

28 June 2018

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atp2b1a regulates Ca2+ export during differentiation and regeneration of mechanosensory hair cells in zebrafish

22 September 2018

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22 September 2018

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22 September 2018

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22 September 2018

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22 September 2018

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22 September 2018

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Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

22 September 2018

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Protein secondary structure and homology by neural networks The α-helices in rhodopsin

21 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23122586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.09.011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23122586%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

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16 February 2020

PubMed publication ID

23122586

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23122586%20AND%20SRC:MED&resulttype=core&format=json