(Q24533348)

4 July 2017

title

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

1 reference

4 July 2017

main subject

transmembrane protein

0 references

Usher syndrome

1 reference

inferred from title

Usher syndrome type 3

1 reference

inferred from title

author

Albert de la Chapelle

11

A de la Chapelle

A

de la Chapelle

1 reference

4 July 2017

T Joensuu

1

T

Joensuu

1 reference

4 July 2017

R Hämäläinen

2

R

Hämäläinen

1 reference

4 July 2017

B Yuan

3

B

Yuan

1 reference

4 July 2017

C Johnson

4

C

Johnson

1 reference

4 July 2017

S Tegelberg

5

S

Tegelberg

1 reference

4 July 2017

P Gasparini

6

P

Gasparini

1 reference

4 July 2017

L Zelante

7

L

Zelante

1 reference

4 July 2017

U Pirvola

8

U

Pirvola

1 reference

4 July 2017

L Pakarinen

9

L

Pakarinen

1 reference

4 July 2017

A E Lehesjoki

10

A E

Lehesjoki

1 reference

4 July 2017

E M Sankila

12

E M

Sankila

1 reference

4 July 2017

language of work or name

English

0 references

publication date

27 August 2001

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

69

1 reference

4 July 2017

issue

4

1 reference

4 July 2017

page(s)

673-684

1 reference

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

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Positional cloning of the gene for X-linked retinitis pigmentosa 2

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

A genetic selection for isolating cDNAs encoding secreted proteins

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Defective myosin VIIA gene responsible for Usher syndrome type 1B

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Myosin VIIa participates in opsin transport through the photoreceptor cilium

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Assembly, annotation, and integration of UNIGENE clusters into the human genome draft

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

A genetic approach to understanding auditory function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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=1226054

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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=1226054

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Genotator: a workbench for sequence annotation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

The ophthalmological course of Usher syndrome type III.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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=1226054

Gene index analysis of the human genome estimates approximately 120,000 genes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226054

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

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11524702

12 December 2020

inferred from PubMed ID database lookup

ESTablishing a human transcript map

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11524702

12 December 2020

inferred from PubMed ID database lookup

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11524702

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/323610

1 reference

release_f3v5dkmf45f7zchqkuag5pwxku

4 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

3007718

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference