(Q44465437)

3 December 2017

title

A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss (English)

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3 December 2017

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5

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3 December 2017

6

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3 December 2017

P Primignani

1

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3 December 2017

P Castorina

series ordinal

2

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3 December 2017

F Sironi

series ordinal

3

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3 December 2017

C Curcio

series ordinal

4

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3 December 2017

publication date

1 June 2003

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3 December 2017

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3 December 2017

volume

63

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3 December 2017

issue

6

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3 December 2017

page(s)

516-521

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Assembly of gap junction intercellular communication channels

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

Genetic epidemiology of hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Non-syndromic autosomal-dominant deafness

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Connections with connexins: the molecular basis of direct intercellular signaling

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Ion channel defects in hereditary hearing loss

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Advances in hereditary deafness

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Connexin mutations in deafness.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Connexin 26 gene linked to a dominant deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Connexin mutations and hearing loss.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Membrane insertion of gap junction connexins: polytopic channel forming membrane proteins

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Mutational analysis of gap junction formation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00079.X

7 January 2021

10.1034/J.1399-0004.2003.00079.X

Identifiers

DOI

1 reference

3 December 2017

1 reference