Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p (Q35828580)

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4 February 2020

title

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p (English)

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4 February 2020

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4 February 2020

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4 February 2020

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4 February 2020

Thomas B Friedman

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4 February 2020

Suzanne M Leal

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4 February 2020

Saima Riazuddin

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4 February 2020

Sheikh Riazuddin

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4 February 2020

Shaheen N Khan

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4 February 2020

Atteeq U Rehman

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4 February 2020

Mohsin Shahzad

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4 February 2020

Khitab Gul

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4 February 2020

Ateeq-Ul Jaleel

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4 February 2020

Carmen C Brewer

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4 February 2020

Zubair M Ahmed

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4 February 2020

Rana A Ali

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4 February 2020

Paula B Andrade

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4 February 2020

Saadullah Khan

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4 February 2020

Wasim Ahmad

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4 February 2020

publication date

10 June 2011

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4 February 2020

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4 February 2020

volume

130

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4 February 2020

issue

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4 February 2020

page(s)

759-765

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Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

4 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

Loss-of-function variants in the genomes of healthy humans

27 July 2018

1 reference

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Hearing loss: mechanisms revealed by genetics and cell biology

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

Function and expression pattern of nonsyndromic deafness genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

27 July 2018

1 reference

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Newborn hearing screening--a silent revolution

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

The DNA sequence and biology of human chromosome 19

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

27 July 2018

Our load of mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

Human Nonsyndromic Sensorineural Deafness

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

Mutations of MYO6 are associated with recessive deafness, DFNB37

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

GIPC gene family (Review)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

Detecting linkage for genetically heterogeneous diseases and detecting heterogeneity with linkage data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3303183

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-011-1018-5

10.1007/S00439-011-1018-5

21 January 2018

Identifiers

DOI

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4 February 2020

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4 February 2020

PubMed publication ID

21660509

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