(Q37277302)

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

12 January 2020

title

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

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

1 reference

nonsyndromic deafness

1 reference

1 reference

5

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

10

Thomas B Friedman

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

2

Saima Riazuddin

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

9

Sheikh Riazuddin

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

6

Saima Anwar

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

author name string

Zubair M Ahmed

1

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

Sandar Aye

3

1 reference

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12 January 2020

Rana A Ali

4

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

Polina P Belyantseva

7

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

Muhammad Qasim

8

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

publication date

22 August 2008

1 reference

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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

volume

124

1 reference

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12 January 2020

issue

3

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

page(s)

215-223

1 reference

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

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Development of a genotyping microarray for Usher syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Untangling Desmosomal Knots with Electron Tomography

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Usher syndrome: from genetics to pathogenesis.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Defective myosin VIIA gene responsible for Usher syndrome type 1B

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

WHAT IF: a molecular modeling and drug design program

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Genetic epidemiology of hearing impairment

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

A high risk registry to find congenital deafness

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Promoter, alternative splice forms, and genomic structure of protocadherin 15.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

Assessment of retinal structure and function in Ames waltzer mice.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716558

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15

3 September 2018

1 reference

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

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

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

1 reference