Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13) (Q22010864)

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2 November 2019

title

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

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Collagen type XI alpha 2 chain

2 November 2019

main subject

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sensory perception of sound

GOA release 2020-03-11

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Collagen, type XI, alpha 2

GOA release 2020-03-11

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GOA release 2020-03-11

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11

M C King

M C

King

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20

R J Smith

R J

Smith

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2 November 2019

McGuirt WT

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W T

McGuirt

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Prasad SD

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S D

Prasad

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Griffith AJ

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Griffith

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Kunst HP

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Kunst

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Green GE

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Green

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Shpargel KB

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Shpargel

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Runge C

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Runge

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Huybrechts C

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Huybrechts

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2 November 2019

Mueller RF

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Mueller

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Lynch E

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Lynch

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Brunner HG

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Brunner

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2 November 2019

Cremers CW

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Cremers

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2 November 2019

Takanosu M

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Takanosu

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Li SW

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Li

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2 November 2019

Arita M

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Arita

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2 November 2019

Mayne R

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Mayne

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2 November 2019

Prockop DJ

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D J

Prockop

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Van Camp G

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Van Camp

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2 November 2019

language of work or name

English

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publication date

1 December 1999

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2 November 2019

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2 November 2019

volume

23

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2 November 2019

page(s)

413-419

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2 November 2019

issue

4

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Genetic epidemiology of hearing impairment

2 November 2019

cites work

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7 January 2021

Genetic associations in age-related hearing thresholds.

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7 January 2021

Collagens and their abnormalities in a wide spectrum of diseases

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7 January 2021

Localization of type II, IX and V collagen in the inner ear

1 reference

7 January 2021

Cartilage contains mixed fibrils of collagen types II, IX, and XI.

1 reference

7 January 2021

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

1 reference

7 January 2021

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

7 January 2021

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

1 reference

7 January 2021

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

7 January 2021

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

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7 January 2021

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

1 reference

7 January 2021

The type XI collagenopathies.

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7 January 2021

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

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7 January 2021

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p

1 reference

7 January 2021

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

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7 January 2021

Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders

1 reference

7 January 2021

Biosynthesis of Procollagen

1 reference

7 January 2021

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships

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7 January 2021

Collagen of accessory structures of organ of Corti

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7 January 2021

Inner ridge cells may be the main source of tectorial membrane type II collagen: evidence from quantitative mRNA in situ hybridization.

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7 January 2021

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

1 reference

7 January 2021

Physical mapping 220 kb centromeric of the human MHC and DNA sequence analysis of the 43-kb segment including the RING1, HKE6, and HKE4 genes

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7 January 2021

Rapid screening of transgenic type II and type XI collagen knock-out mice with three-primer PCR

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7 January 2021

Genetics of age-related hearing loss in mice: I. Inbred and F1 hybrid strains.

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7 January 2021

The use of long-duration current pulses to assess nerve survival

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7 January 2021

A low-viscosity epoxy resin embedding medium for electron microscopy

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7 January 2021

The block-surface technique for evaluation of cochlear pathology

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7 January 2021

Cochlear pathology of long term neomycin induced deafness in cats

1 reference

7 January 2021

Ultrastructural organization of proteoglycans and fibrillar matrix of the tectorial membrane.

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7 January 2021

Identifiers

DOI

10.1038/70516

1 reference

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Dimensions Publication ID

2 November 2019

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