(Q30496068)

19 October 2017

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila (English)

1 reference

19 October 2017

0 references

Diaphanous Dmel_CG1768

1 reference

GOA release 2020-03-11

author

Margit Burmeister

9

1 reference

19 October 2017

Michael Hortsch

7

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author name string

Cynthia J Schoen

1

1 reference

19 October 2017

Sarah B Emery

2

1 reference

19 October 2017

Marc C Thorne

3

1 reference

19 October 2017

Hima R Ammana

4

1 reference

19 October 2017

Elzbieta Sliwerska

5

1 reference

19 October 2017

Jameson Arnett

6

1 reference

19 October 2017

Frances Hannan

8

1 reference

19 October 2017

Marci M Lesperance

10

1 reference

19 October 2017

language of work or name

English

0 references

publication date

12 July 2010

1 reference

Proceedings of the National Academy of Sciences of the United States of America

19 October 2017

1 reference

19 October 2017

107

1 reference

19 October 2017

30

1 reference

19 October 2017

13396-13401

1 reference

Unleashing formins to remodel the actin and microtubule cytoskeletons

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

The role of formins in human disease.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Oncosome formation in prostate cancer: association with a region of frequent chromosomal deletion in metastatic disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Distinct sensory representations of wind and near-field sound in the Drosophila brain.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

The neural basis of Drosophila gravity-sensing and hearing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Environmental sensing through focal adhesions

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Unique transgenic animal model for hereditary hearing loss

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Formin-dependent synaptic growth: evidence that Dlar signals via Diaphanous to modulate synaptic actin and dynamic pioneer microtubules

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Novel roles of formin mDia2 in lamellipodia and filopodia formation in motile cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Development of Johnston's organ in Drosophila.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Mechanotransduction and auditory transduction in Drosophila.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Formin proteins: a domain-based approach.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Genetic modifiers of beta-thalassemia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

When size matters: the dynamic regulation of stereocilia lengths

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

The formins: active scaffolds that remodel the cytoskeleton

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Sp1- and Krüppel-like transcription factors

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

MAFFT: a novel method for rapid multiple sequence alignment based on fast Fourier transform

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Who does the hair cell's 'do? Rho GTPases and hair-bundle morphogenesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

The molecular basis of genetic dominance

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Predicting Pol II promoter sequences using transcription factor binding sites.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Anatomy of cochlear innervation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

Measurement of the binding of transcription factor Sp1 to a single GC box recognition sequence

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922180

A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.

14 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

Evidence for tension-based regulation of Drosophila MAL and SRF during invasive cell migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

Thalassaemia mutations within the 5'UTR of the human beta-globin gene disrupt transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

Myeloproliferative defects following targeting of the Drf1 gene encoding the mammalian diaphanous related formin mDia1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

Defining mechanisms of actin polymerization and depolymerization during dendritic spine morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

Comprehensive classification of the auditory sensory projections in the brain of the fruit fly Drosophila melanogaster.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

Cochlear receptor (microphonic and summating potentials, otoacoustic emissions) and auditory pathway (auditory brain stem potentials) activity in auditory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

Diaphanous 1 and 2 regulate smooth muscle cell differentiation by activating the myocardin-related transcription factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003027107

21 January 2018

Identifiers

DOI

10.1073/PNAS.1003027107

1 reference

19 October 2017

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1 reference

19 October 2017

1 reference