(Q34134919)

31 July 2017

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses (English)

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31 July 2017

transmembrane protein

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author

Shmuel Pietrokovski

15

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31 July 2017

12

Anna-Elina Lehesjoki

1 reference

31 July 2017

Sarah Vreugde

2

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Karen Avraham

Karen B Avraham

14

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John G. Flannery

John G Flannery

13

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Jacques S Beckmann

Jacques S Beckmann

17

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Doron Lancet

18

Doron Lancet

1 reference

31 July 2017

Avital Adato

1

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31 July 2017

Tarja Joensuu

3

1 reference

31 July 2017

Nili Avidan

4

1 reference

31 July 2017

Riikka Hamalainen

5

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31 July 2017

Olga Belenkiy

6

1 reference

31 July 2017

Tsviya Olender

7

1 reference

31 July 2017

Batsheva Bonne-Tamir

8

1 reference

31 July 2017

Edna Ben-Asher

9

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31 July 2017

Carmen Espinos

10

1 reference

31 July 2017

José M Millán

11

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31 July 2017

Eeva-Marja Sankila

16

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31 July 2017

1 June 2002

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European Journal of Human Genetics

31 July 2017

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31 July 2017

10

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31 July 2017

6

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31 July 2017

339-350

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200831

31 July 2017

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cites work

Usher syndrome: from genetics to pathogenesis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Usher's syndrome type 3 in Finland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Localization of Usher syndrome type II to chromosome 1q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Interaction of ion channels and receptors with PDZ domain proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Recent progress in protocadherin research

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Linkage analysis in Usher syndrome type I (USH1) families from Spain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Genomic structure of the human unconventional myosin VI gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

GESTALT: a workbench for automatic integration and visualization of large-scale genomic sequence analyses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Automated construction and graphical presentation of protein blocks from unaligned sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

A workbench for multiple alignment construction and analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Topology prediction for helical transmembrane proteins at 86% accuracy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Expression of myosin VIIA during mouse embryogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Comparative study of visual, auditory, and olfactory function in Usher syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Specific tetraspanin functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Searching databases of conserved sequence regions by aligning protein multiple-alignments

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Improved tools for biological sequence comparison

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Stargazer: a new neurological mutant on chromosome 15 in the mouse with prolonged cortical seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Membrane topology and insertion of membrane proteins: search for topogenic signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Diversity and molecular anatomy of gap junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

The roles of claudin superfamily proteins in paracellular transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Unusual spectral energy distribution of a galaxy previously reported to be at redshift 6.68.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Unexpected modes of PDZ domain scaffolding revealed by structure of nNOS-syntrophin complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Molecular organization of a type of peripheral glutamate synapse: the afferent synapses of hair cells in the inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

PDZ protein interactions regulating glutamate receptor function and plasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Presynaptic bodies ("ribbons"): from ultrastructural observations to molecular perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Unconventional myosins in inner-ear sensory epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

Fast and sensitive silver staining of DNA in polyacrylamide gels

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

inferred from DOI database lookup

7 January 2021

based on heuristic

Genetic and physical maps of the stargazer locus on mouse chromosome 15

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

inferred from DOI database lookup

7 January 2021

based on heuristic

Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200831

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200831

1 reference

31 July 2017

1 reference