(Q36891544)

English

A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness

scientific article published on 11 September 2008

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Europe PubMed Central

PMC publication ID

16 August 2017

A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

1 reference

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author name string

Eugene A de Zwart-Storm

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Michel van Geel

2

1 reference

Europe PubMed Central

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16 August 2017

Pierre A F A van Neer

3

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Peter M Steijlen

4

1 reference

Europe PubMed Central

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16 August 2017

Patricia E Martin

5

1 reference

Europe PubMed Central

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16 August 2017

Maurice A M van Steensel

6

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Europe PubMed Central

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16 August 2017

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publication date

11 September 2008

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Europe PubMed Central

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16 August 2017

The American Journal of Pathology

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16 August 2017

173

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Europe PubMed Central

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16 August 2017

4

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Europe PubMed Central

PMC publication ID

16 August 2017

1113-1119

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

Gap junctions: basic structure and function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

The gap junction cellular internet: connexin hemichannels enter the signalling limelight

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

Life cycle of connexins 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=2543078

29 September 2017

Functional consequences of heterogeneous gap junction channel formation and its influence 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=2543078

29 September 2017

Effects of connexin-mimetic peptides on gap junction functionality and connexin expression in cultured vascular cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

Gap junction diseases of the skin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

Multiple pathways in the trafficking and assembly of connexin 26, 32 and 43 into gap junction intercellular communication channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

Negative growth control of HeLa cells by connexin genes: connexin species specificity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

29 September 2017

A murine living skin equivalent amenable to live-cell imaging: analysis of the roles of connexins in the epidermis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

27 June 2018

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

4 September 2018

Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

4 September 2018

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

4 September 2018

Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543078

4 September 2018

Identifiers

10.2353/AJPATH.2008.080049

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

ResearchGate publication ID

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