(Q47280348)

English

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

scientific article published on 2 June 2004

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scholarly article

1 reference

Europe PubMed Central

13 January 2018

http://europepmc.org/abstract/MED/15221449

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). (English)

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Europe PubMed Central

13 January 2018

http://europepmc.org/abstract/MED/15221449

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Han G Brunner

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Europe PubMed Central

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http://europepmc.org/abstract/MED/15221449

Cor W. R. J. Cremers

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object named as

Cor W R J Cremers

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Europe PubMed Central

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http://europepmc.org/abstract/MED/15221449

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Hannie Kremer

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Europe PubMed Central

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http://europepmc.org/abstract/MED/15221449

Frans P M Cremers

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object named as

Frans P M Cremers

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Europe PubMed Central

13 January 2018

http://europepmc.org/abstract/MED/15221449

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object named as

Elmar Krieger

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Europe PubMed Central

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http://europepmc.org/abstract/MED/15221449

Patrick L M Huygen

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object named as

Patrick L M Huygen

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http://europepmc.org/abstract/MED/15221449

Ronald J E Pennings

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Ronald J E Pennings

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Europe PubMed Central

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http://europepmc.org/abstract/MED/15221449

Mirjam W J Luijendijk

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Mirjam W J Luijendijk

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Europe PubMed Central

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http://europepmc.org/abstract/MED/15221449

Anne M L C Bischoff

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object named as

Anne M L C Bischoff

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Europe PubMed Central

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http://europepmc.org/abstract/MED/15221449

author name string

Erwin Van Wijk

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Europe PubMed Central

13 January 2018

http://europepmc.org/abstract/MED/15221449

publication date

2 June 2004

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Europe PubMed Central

13 January 2018

http://europepmc.org/abstract/MED/15221449

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Europe PubMed Central

13 January 2018

http://europepmc.org/abstract/MED/15221449

115

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149-156

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http://europepmc.org/abstract/MED/15221449

https://scigraph.springernature.com/pub.10.1007/s00439-004-1137-3

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

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https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

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Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I

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https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

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Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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

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https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

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WHAT IF: a molecular modeling and drug design program

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https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

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The clinical presentation of DFNB2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

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https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

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Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unconventional myosins in inner-ear sensory epithelia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strategies for multilocus linkage analysis in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Twilight zone of protein sequence alignments

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

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X-ray structures of the myosin motor domain of Dictyostelium discoideum complexed with MgADP.BeFx and MgADP.AlF4-

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Role of the salt-bridge between switch-1 and switch-2 of Dictyostelium myosin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Structure-mutation analysis of the ATPase site of Dictyostelium discoideum myosin II

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https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

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Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced genome annotation using structural profiles in the program 3D-PSSM

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Biochemical and molecular characterization of diseases linked to motor proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Myosin VIIa participates in opsin transport through the photoreceptor cilium

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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A high-resolution recombination map of the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

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Mutations in the relay loop region result in dominant-negative inhibition of myosin II function in Dictyostelium

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Errors in protein structures

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tails of unconventional myosins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

From DFNB2 to Usher syndrome: variable expressivity of the same disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of a genetically engineered molecular motor.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15221449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-004-1137-3

1 reference

Europe PubMed Central

13 January 2018

http://europepmc.org/abstract/MED/15221449

1 reference

Europe PubMed Central

13 January 2018

http://europepmc.org/abstract/MED/15221449

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