Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II (Q24306120)

sensory perception of light stimulus

GOA release 2020-03-11

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GOA release 2020-03-11

1 reference

Michael D Weston

1

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Mirjam W J Luijendijk

2

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Kurt D Humphrey

3

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Claes Möller

4

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William J Kimberling

American Journal of Human Genetics

5

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language of work or name

English

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publication date

February 2004

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published in

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volume

74

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issue

2

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page(s)

357-66

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cites work

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

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Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

19 March 2017

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The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

19 March 2017

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A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

19 March 2017

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Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system

19 March 2017

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Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

19 March 2017

1 reference

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

19 March 2017

1 reference

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

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

19 March 2017

1 reference

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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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

19 March 2017

1 reference

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Calx, a Na-Ca exchanger gene of Drosophila melanogaster

19 March 2017

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

19 March 2017

1 reference

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Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3

19 March 2017

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The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders

19 March 2017

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A common protein interaction domain links two recently identified epilepsy genes

19 March 2017

1 reference

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PDZ domains: structural modules for protein complex assembly

19 March 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

A novel gene causing a mendelian audiogenic mouse epilepsy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw)

19 March 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Beta-propellers: associated functions and their role in human diseases.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

CDART: protein homology by domain architecture

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Post-translational proteolytic processing of the calcium-independent receptor of alpha-latrotoxin (CIRL), a natural chimera of the cell adhesion protein and the G protein-coupled receptor. Role of the G protein-coupled receptor proteolysis site [...]

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Bioinformatics and type II G-protein-coupled receptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Listen carefully: positional cloning of an audiogenic seizure mutation may yield Frings benefits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Merging extracellular domains: fold prediction for laminin G-like and amino-terminal thrombospondin-like modules based on homology to pentraxins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Ultrastructural evidence for protection of the outer hair cells of the inner ear during intense noise exposure by application of the organic calcium channel blocker diltiazem

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Calcium channel blockers for prevention of noise trauma in otologic surgery

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Localization of Usher syndrome type II to chromosome 1q.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Treatment with taurine, diltiazem, and vitamin E retards the progressive visual field reduction in retinitis pigmentosa: a 3-year follow-up study

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

Absence of photoreceptor rescue with D-cis-diltiazem in the rd mouse

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181933

29 November 2018

Identifiers

DOI

10.1086/381685

1 reference

1 reference

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PubMed publication ID

14740321

1 reference