A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family (Q35068042)

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English	A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

José-Alain Sahel

10

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Marie-Elise Lancelot

5

object named as

Marie-Elise Lancelot

1 reference

Europe PubMed Central

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6 August 2017

Saddek Mohand-Saïd

3

object named as

Saddek Mohand-Saïd

1 reference

Europe PubMed Central

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6 August 2017

7

object named as

Aurore Germain

1 reference

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6 August 2017

Christina Zeitz

12

object named as

Christina Zeitz

1 reference

Europe PubMed Central

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6 August 2017

6

object named as

Aline Antonio

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

1

object named as

Isabelle Audo

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

author name string

Kinga Bujakowska

2

1 reference

Europe PubMed Central

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6 August 2017

Sophie Tronche

4

1 reference

Europe PubMed Central

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6 August 2017

Christine Lonjou

8

1 reference

Europe PubMed Central

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6 August 2017

Wassila Carpentier

9

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Europe PubMed Central

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6 August 2017

Shomi Bhattacharya

11

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6 August 2017

publication date

15 June 2011

1 reference

Europe PubMed Central

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6 August 2017

Molecular Vision

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

17

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Europe PubMed Central

PubMed publication ID

6 August 2017

1598-1606

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Genetics and pathological mechanisms of Usher syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

EYS is a major gene for rod-cone dystrophies in France.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

ISCEV guidelines for clinical multifocal electroretinography (2007 edition).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Usher syndrome: molecular links of pathogenesis, proteins and pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Development of a genotyping microarray for Usher syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Whirlin complexes with p55 at the stereocilia tip during hair cell development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

Usher syndrome: definition and estimate of prevalence from two high-risk populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

8 July 2018

ISCEV Standard for full-field clinical electroretinography (2008 update).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123164

27 September 2018

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/21738389

12 December 2020

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

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