(Q33960515)

English

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

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

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

1 reference

Europe PubMed Central

30 July 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Mary-Claire King

10

object named as

Mary-Claire King

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object named as

Moien Kanaan

11

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object named as

Tom Walsh

1

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object named as

Karen B Avraham

9

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author name string

Hashem Shahin

2

1 reference

Europe PubMed Central

30 July 2017

Tal Elkan-Miller

3

1 reference

Europe PubMed Central

30 July 2017

Ming K Lee

4

1 reference

Europe PubMed Central

30 July 2017

Anne M Thornton

5

1 reference

Europe PubMed Central

30 July 2017

Wendy Roeb

6

1 reference

Europe PubMed Central

30 July 2017

Amal Abu Rayyan

7

1 reference

Europe PubMed Central

30 July 2017

Suheir Loulus

8

1 reference

Europe PubMed Central

30 July 2017

language of work or name

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publication date

17 June 2010

1 reference

Europe PubMed Central

30 July 2017

American Journal of Human Genetics

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Europe PubMed Central

30 July 2017

87

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Europe PubMed Central

30 July 2017

90-94

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Europe PubMed Central

30 July 2017

1

1 reference

Europe PubMed Central

30 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Enrichment of sequencing targets from the human genome by solution hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Identification of an Aurora-A/PinsLINKER/Dlg spindle orientation pathway using induced cell polarity in S2 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Hearing loss: mechanisms revealed by genetics and cell biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Development of form and function in the mammalian cochlea.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Linking genes underlying deafness to hair-bundle development and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

A point mutation to Galphai selectively blocks GoLoco motif binding: direct evidence for Galpha.GoLoco complexes in mitotic spindle dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Mapping short DNA sequencing reads and calling variants using mapping quality scores

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Neuroepithelial progenitors undergo LGN-dependent planar divisions to maintain self-renewability during mammalian neurogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Cell polarity in development and cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Hair cell development: commitment through differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Dare to be different: asymmetric cell division in Drosophila, C. elegans and vertebrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Translation of polarity cues into asymmetric spindle positioning in Caenorhabditis elegans embryos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Expression analysis and subcellular distribution of the two G-protein regulators AGS3 and LGN indicate distinct functionality. Localization of LGN to the midbody during cytokinesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

A mammalian Partner of inscuteable binds NuMA and regulates mitotic spindle organization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Identification of a truncated form of the G-protein regulator AGS3 in heart that lacks the tetratricopeptide repeat domains.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

5 July 2018

Pins homolog LGN regulates meiotic spindle organization in mouse oocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

29 October 2018

Wnt signaling mediates reorientation of outer hair cell stereociliary bundles in the mammalian cochlea.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896776

29 October 2018

Identifiers

10.1016/J.AJHG.2010.05.010

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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