(Q24539119)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

8

1 reference

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5 November 2019

Alessandro Martini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Richard J Smith

11

1 reference

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5 November 2019

author name string

M D Weston

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J D Eudy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S Fujita

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S Yao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S Usami

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

C Cremers

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J Greenberg

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

C Moller

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J Sumegi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

W J Kimberling

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

language of work or name

English

0 references

publication date

22 March 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

5 November 2019

published in

1 reference

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5 November 2019

volume

66

1 reference

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5 November 2019

issue

4

1 reference

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5 November 2019

page(s)

1199-1210

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

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

5 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Characterization and expression of the laminin gamma3 chain: a novel, non-basement membrane-associated, laminin chain

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

A catalogue of splice junction sequences

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Multiple sequence alignment with hierarchical clustering

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Macromolecular organization of basement membranes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

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=1288187

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

The molecular biology of axon guidance

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Mutation analysis and molecular genetics of epidermolysis bullosa

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Laminin polymerization induces a receptor-cytoskeleton network

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

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=1288187

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=1288187

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=1288187

Self-assembly and calcium-binding sites in laminin. A three-arm interaction model

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

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=1288187

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Gene mapping of the Usher syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Identification of a novel mutant transcript of laminin α2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

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=1288187

A histologic study of nonmorphogenetic forms of hereditary hearing impairment.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

UNC-6, a laminin-related protein, guides cell and pioneer axon migrations in C. elegans

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Role of dystrophin isoforms and associated proteins in muscular dystrophy (review).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

Neuroglia and pioneer neurons express UNC-6 to provide global and local netrin cues for guiding migrations in C. elegans.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288187

29 November 2018

Identifiers

DOI

10.1086/302855

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

release_23v6g7prmfdrrc2fxa7xlznmbu

5 November 2019

Fatcat ID

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10729113%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

10729113

1 reference