Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (Q50453784)

14 March 2018

title

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (English)

1 reference

14 March 2018

main subject

nonsyndromic deafness

1 reference

1 reference

15

Inna A Belyantseva

1 reference

14 March 2018

Thomas B. Friedman

17

Thomas B Friedman

1 reference

14 March 2018

Saima Riazuddin

1

Saima Riazuddin

1 reference

14 March 2018

Sheikh Riazuddin

16

Sheikh Riazuddin

1 reference

14 March 2018

Shaheen Khan

8

Shaheen N Khan

1 reference

14 March 2018

Erich T Boger

13

Erich T Boger

1 reference

14 March 2018

Sabiha Nazli

2

Sabiha Nazli

1 reference

14 March 2018

Rehan S Shaikh

6

Rehan S Shaikh

1 reference

14 March 2018

Ekaterini T Tsilou

12

Ekaterini Tsilou

1 reference

14 March 2018

author name string

Zubair M Ahmed

3

1 reference

14 March 2018

Yi Yang

4

1 reference

14 March 2018

Fareeha Zulfiqar

5

1 reference

14 March 2018

Ahmed U Zafar

7

1 reference

14 March 2018

Farooq Sabar

9

1 reference

14 March 2018

Fouzia T Javid

10

1 reference

14 March 2018

Edward R Wilcox

11

1 reference

14 March 2018

James R Sellers

14

1 reference

14 March 2018

publication date

1 April 2008

1 reference

14 March 2018

published in

Human Mutation

1 reference

14 March 2018

volume

29

1 reference

14 March 2018

page(s)

502-511

1 reference

14 March 2018

issue

4

1 reference

14 March 2018

Interactions in the network of Usher syndrome type 1 proteins

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

The molecular genetics of Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Searching for evidence of DFNB2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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/10.1002%2FHUMU.20677

Two binding partners cooperate to activate the molecular motor Kinesin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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/10.1002%2FHUMU.20677

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Unconventional myosins in inner-ear sensory epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

The structural basis of muscle contraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Usher syndrome in the city of Birmingham--prevalence and clinical classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Functional significance of the conserved residues in the flexible hinge region of the myosin motor domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Standard for clinical electroretinography (2004 update).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Usher syndrome: from genetics to pathogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

The cargo-binding domain regulates structure and activity of myosin 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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/10.1002%2FHUMU.20677

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Dimerized Drosophila myosin VIIa: a processive motor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20677

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.20677

1 reference

14 March 2018

PubMed ID

18181211

1 reference

14 March 2018