Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53 (Q36449240)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633957%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53 (English)

1 reference

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29 February 2020

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2

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29 February 2020

Güney Bademci

3

1 reference

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29 February 2020

Mariem Ben Saïd

4

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29 February 2020

Mustafa Tekin

14

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29 February 2020

author name string

Imen Chakchouk

1

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29 February 2020

Qi Ma

5

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29 February 2020

Amine Chakroun

6

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29 February 2020

Joseph Foster

7

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29 February 2020

Denise Yan

8

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29 February 2020

Duygu Duman

9

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29 February 2020

Oscar Diaz-Horta

10

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29 February 2020

Abdelmonem Ghorbel

11

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29 February 2020

Rahul Mittal

12

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29 February 2020

Amjad Farooq

13

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29 February 2020

Saber Masmoudi

15

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29 February 2020

Xue Zhong Liu

16

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29 February 2020

publication date

30 January 2015

1 reference

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Molecular Genetics and Genomics

29 February 2020

published in

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29 February 2020

volume

290

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29 February 2020

issue

4

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29 February 2020

page(s)

1327-1334

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NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.

29 February 2020

cites work

1 reference

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Next-generation sequencing in genetic hearing loss

30 September 2017

1 reference

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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.

30 September 2017

1 reference

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Clustal W and Clustal X version 2.0

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

Crystal structure of the N-terminal NC4 domain of collagen IX, a zinc binding member of the laminin-neurexin-sex hormone binding globulin (LNS) domain family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

Characterization of recombinant amino-terminal NC4 domain of human collagen IX: interaction with glycosaminoglycans and cartilage oligomeric matrix protein

30 September 2017

1 reference

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Comparative protein structure modeling of genes and genomes

30 September 2017

1 reference

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SCOP: a structural classification of proteins database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

MOLMOL: a program for display and analysis of macromolecular structures

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

SCOP: a structural classification of proteins database for the investigation of sequences and structures

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4707654

Alternative mRNA Processing Occurs in the Variable Region of the Pro-1(XI) and Pro-2(XI) Collagen Chains

28 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00438-015-0995-9

Structural analysis of cross-linking domains in cartilage type XI collagen. Insights on polymeric assembly

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25633957

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Complete structure of the human COL11A2 gene: the exon sizes and other features indicate the gene has not evolved with genes for other fibriller collagens

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25633957

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00438-015-0995-9

1 reference

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29 February 2020

1 reference

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29 February 2020

PubMed publication ID

25633957

1 reference

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