(Q24675621)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

main subject

Usher syndrome type 1

1 reference

1 reference

M D Weston

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

P M Kelley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

L D Overbeck

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

M Wagenaar

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

D J Orten

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

T Hasson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Z Y Chen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

D Corey

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

M Mooseker

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

J Sumegi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

C Cremers

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

C Moller

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

S G Jacobson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

M B Gorin

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

W J Kimberling

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

language of work or name

English

0 references

publication date

1 November 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

1074-1083

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

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

20 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Defective myosin VIIA gene responsible for Usher syndrome type 1B

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Three-dimensional structure of myosin subfragment-1: a molecular motor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Contractile protein mutations and heart disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Structure of the actin-myosin complex and its implications for muscle contraction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

30 May 2018

Unconventional Myosins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Clinical and molecular genetics of Usher syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914835

Double mutant alleles: are they rare?

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8900236

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8900236

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/8900236

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

3760254

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3760254

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900236%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

2 references

Consolidated OpenCitations Corpus – April 2017

3760254