(Q24315139)

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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25601850%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25601850%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Doublecortin domain containing 2

1 reference

GOA release 2020-03-11

regulation of cilium assembly

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

1

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Europe PubMed Central

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28 February 2020

Mariem Ben Saïd

4

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28 February 2020

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Imen Chakchouk

2

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28 February 2020

Qi Ma

3

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28 February 2020

Alexandra Desmidt

5

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28 February 2020

Nouha Turki

6

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28 February 2020

Denise Yan

7

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28 February 2020

Aissette Baanannou

8

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28 February 2020

Rahul Mittal

9

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28 February 2020

Nabil Driss

10

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28 February 2020

Susan Blanton

11

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28 February 2020

Amjad Farooq

12

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Europe PubMed Central

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28 February 2020

Zhongmin Lu

13

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28 February 2020

Xue Zhong Liu

14

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28 February 2020

Saber Masmoudi

15

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28 February 2020

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publication date

18 January 2015

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Europe PubMed Central

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28 February 2020

Human Molecular Genetics

1 reference

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28 February 2020

24

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28 February 2020

9

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28 February 2020

2482-2491

1 reference

Europe PubMed Central

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28 February 2020

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4383862/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

Twinfilin 2 regulates actin filament lengths in cochlear stereocilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

DCDC2 is associated with reading disability and modulates neuronal development in the brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

Cloning of ligand targets: systematic isolation of SH3 domain-containing proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

Dcdc2 knockout mice display exacerbated developmental disruptions following knockdown of doublecortin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

Ciliary proteins link basal body polarization to planar cell polarity regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

19 March 2017

The primary cilium: a signalling centre during vertebrate development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

7 April 2017

Centrioles, centrosomes, and cilia in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

7 April 2017

IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

7 April 2017

Genetics of auditory mechano-electrical transduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

MAPping out distribution routes for kinesin couriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

Alleles of a polymorphic ETV6 binding site in DCDC2 confer risk of reading and language impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

Early development of hearing in zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

The ciliopathies: a transitional model into systems biology of human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

Kif3a regulates planar polarization of auditory hair cells through both ciliary and non-ciliary mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

Ciliopathies: an expanding disease spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

A doublecortin containing microtubule-associated protein is implicated in mechanotransduction in Drosophila sensory cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

The doublecortin gene family and disorders of neuronal structure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

Actin filaments, stereocilia, and hair cells: how cells count and measure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

27 September 2017

PrDOS: prediction of disordered protein regions from amino acid sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383862

30 May 2018

Common and divergent roles for members of the mouse DCX superfamily.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV009

21 January 2018

POODLE-S: web application for predicting protein disorder by using physicochemical features and reduced amino acid set of a position-specific scoring matrix

1 reference

https://pubmed.ncbi.nlm.nih.gov/25601850

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDV009

2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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28 February 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25601850%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25601850%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

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