Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome (Q37277302)

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12 January 2020

title

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome (English)

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12 January 2020

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nonsyndromic deafness

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1 reference

5

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10

Thomas B Friedman

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12 January 2020

2

Saima Riazuddin

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9

Sheikh Riazuddin

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6

Saima Anwar

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12 January 2020

author name string

Zubair M Ahmed

1

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Sandar Aye

3

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12 January 2020

Rana A Ali

4

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Polina P Belyantseva

7

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Muhammad Qasim

8

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12 January 2020

publication date

22 August 2008

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12 January 2020

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12 January 2020

volume

124

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issue

3

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page(s)

215-223

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https://scigraph.springernature.com/pub.10.1007/s00439-008-0543-3

12 January 2020

exact match

0 references

cites work

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.

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Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells

9 September 2017

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Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

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Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts

9 September 2017

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Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

9 September 2017

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Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas

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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

9 September 2017

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Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

9 September 2017

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PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

9 September 2017

1 reference

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Untangling Desmosomal Knots with Electron Tomography

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

9 September 2017

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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

9 September 2017

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Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

9 September 2017

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CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

9 September 2017

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9 September 2017

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Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

9 September 2017

1 reference

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

9 September 2017

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

9 September 2017

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

9 September 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

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14 September 2017

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PubMed

https://pubmed.ncbi.nlm.nih.gov/18719945

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Lateral self-assembly of E-cadherin directed by cooperative calcium binding

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18719945

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-008-0543-3

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12 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18719945%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

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