(Q24337039)

English

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

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17171570%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17171570%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

GOA release 2020-03-11

sensory perception of light stimulus

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GOA release 2020-03-11

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based on heuristic

inferred from title

Usher syndrome type 2

1 reference

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retinitis pigmentosa

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sensorineural hearing loss

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Peter Charbel Issa

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17171570%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Elvir Becirovic

4

1 reference

Europe PubMed Central

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23 December 2019

9

1 reference

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23 December 2019

2

object named as

Hendrik P N Scholl

1 reference

Europe PubMed Central

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23 December 2019

author name string

Inga Ebermann

1

1 reference

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23 December 2019

Jürgen Lamprecht

5

1 reference

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23 December 2019

Bernhard Jurklies

6

1 reference

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23 December 2019

José M Millán

7

1 reference

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23 December 2019

Elena Aller

8

1 reference

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23 December 2019

Hanno Bolz

10

1 reference

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23 December 2019

language of work or name

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publication date

15 December 2006

1 reference

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23 December 2019

1 reference

Europe PubMed Central

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23 December 2019

121

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23 December 2019

203-211

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23 December 2019

2

1 reference

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23 December 2019

https://scigraph.springernature.com/pub.10.1007/s00439-006-0304-0

0 references

Prevalence and geographical distribution of Usher syndrome in Germany.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Audiological findings in Usher syndrome types IIa and II (non-IIa).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

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A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Standard for clinical electroretinography (2004 update).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The usher syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

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Usher syndrome: molecular links of pathogenesis, proteins and pathways

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

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The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

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Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Usher syndrome in the city of Birmingham--prevalence and clinical classification

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

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Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular genetics of Usher syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17171570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-006-0304-0

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

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23 December 2019

Dimensions Publication ID

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release_6pj4trdspzdhdeqas4gwfafb3u

1 reference

https://api.fatcat.wiki/v0/release/6pj4trdspzdhdeqas4gwfafb3u

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17171570%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

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