(Q55459805)

12 July 2018

title

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. (English)

1 reference

12 July 2018

author

Hossein Najmabadi

14

1 reference

12 July 2018

author name string

Zohreh Fattahi

1

1 reference

12 July 2018

A Eliot Shearer

2

1 reference

12 July 2018

Mojgan Babanejad

3

1 reference

12 July 2018

Niloofar Bazazzadegan

4

1 reference

12 July 2018

Seyed Navid Almadani

5

1 reference

12 July 2018

Nooshin Nikzat

6

1 reference

12 July 2018

Khadijeh Jalalvand

7

1 reference

12 July 2018

Sanaz Arzhangi

8

1 reference

12 July 2018

Fatemehsadat Esteghamat

9

1 reference

12 July 2018

Rezvan Abtahi

10

1 reference

12 July 2018

Batool Azadeh

11

1 reference

12 July 2018

Richard J H Smith

12

1 reference

12 July 2018

Kimia Kahrizi

13

1 reference

12 July 2018

language of work or name

English

0 references

publication date

26 June 2012

1 reference

12 July 2018

American Journal of Medical Genetics

published in

1 reference

12 July 2018

volume

158A

1 reference

12 July 2018

issue

8

1 reference

12 July 2018

page(s)

1857-1864

1 reference

12 July 2018

Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Myosins: tails (and heads) of functional diversity

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Structural determinants of integrin recognition by talin

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Calmodulin signaling via the IQ motif

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Unconventional myosins and the genetics of hearing loss

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

15 July 2018

Myosins and deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Sequence motifs for calmodulin recognition

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

Relation between choice of partner and high frequency of connexin-26 deafness

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3757123

12 August 2018

Unconventional Myosins

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.34411

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34411

1 reference

12 July 2018

PMC publication ID

3757123

1 reference

12 July 2018

PubMed publication ID

22736430

1 reference

12 July 2018