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

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Language	Label	Description	Also known as
English	Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F	scientific article

Statements

scholarly article

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

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GOA release 2020-03-11

Protocadherin related 15

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GOA release 2020-03-11

USH1 protein network component harmonin

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GOA release 2020-03-11

USH1 protein network component sans

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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 1F

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based on heuristic

inferred from title

Thomas B. Friedman

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object named as

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

10

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language of work or name

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publication date

July 2001

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American Journal of Human Genetics

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69

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1

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25-34

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Initial sequencing and analysis of the human genome

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19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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19 March 2017

A striking organization of a large family of human neural cadherin-like cell adhesion genes

1 reference

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19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

Defective myosin VIIA gene responsible for Usher syndrome type 1B

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Base-calling of automated sequencer traces using phred. I. Accuracy assessment

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

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The cadherin superfamily: diversity in form and function

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

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19 March 2017

Myosin VIIa participates in opsin transport through the photoreceptor cilium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

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19 March 2017

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

1 reference

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19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

19 March 2017

Ab initio gene finding in Drosophila genomic DNA

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7 April 2017

Comprehensive human genetic maps: individual and sex-specific variation in recombination

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Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study

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27 September 2017

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

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27 September 2017

Modifier genes of hereditary hearing loss

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27 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

27 September 2017

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27 September 2017

The diversity of cadherins and implications for a synaptic adhesive code in the CNS.

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27 September 2017

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

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27 September 2017

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

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27 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

27 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226045

27 September 2017

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

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29 November 2018

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

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

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https://pubmed.ncbi.nlm.nih.gov/11398101

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based on heuristic

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Genetic Studies of Usher Syndrome

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https://pubmed.ncbi.nlm.nih.gov/11398101

12 December 2020

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Loading and transfer control for Northern hybridization

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https://pubmed.ncbi.nlm.nih.gov/11398101

12 December 2020

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

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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