Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F (Q24291312)

Protocadherin related 15

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USH1 protein network component harmonin

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USH1 protein network component sans

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sensory perception of light stimulus

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Usher syndrome

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inferred from title

Usher syndrome type 1F

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8

T B Friedman

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author name string

Z M Ahmed

1

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S Riazuddin

2

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S L Bernstein

3

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Z Ahmed

4

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S Khan

5

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A J Griffith

6

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R J Morell

7

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E R Wilcox

American Journal of Human Genetics

10

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language of work or name

English

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publication date

July 2001

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published in

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volume

69

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issue

1

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page(s)

25-34

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cites work

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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

19 March 2017

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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

19 March 2017

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

19 March 2017

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

19 March 2017

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

19 March 2017

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Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B

19 March 2017

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19 March 2017

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Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members

19 March 2017

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Myosin VIIa participates in opsin transport through the photoreceptor cilium

19 March 2017

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Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

19 March 2017

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The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

19 March 2017

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Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

19 March 2017

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Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

19 March 2017

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A type VII myosin encoded by the mouse deafness gene shaker-1

19 March 2017

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Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

19 March 2017

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A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

19 March 2017

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Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

19 March 2017

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The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

19 March 2017

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19 March 2017

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Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice

19 March 2017

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Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

27 September 2017

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27 September 2017

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

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

27 September 2017

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Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

27 September 2017

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

27 September 2017

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Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

27 September 2017

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27 September 2017

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Localization of two genes for Usher syndrome type I to chromosome 11.

27 September 2017

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30 May 2018

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Coincident onset of expression of myosin VIIa and opsin in the cilium of the developing photoreceptor cell

29 November 2018

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12 December 2020

Dystrophia retinae pigmentosa--dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome

1 reference

12 December 2020

Genetic Studies of Usher Syndrome

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12 December 2020

Loading and transfer control for Northern hybridization

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12 December 2020

Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F321277

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/321277

1 reference

1 reference

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PubMed publication ID

11398101

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