Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations (Q40587065)

21 September 2017

Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations (English)

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21 September 2017

Dale W Laird

3

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author name string

Tamsin Thomas

series ordinal

1

1 reference

PubMed ID

14978038

21 September 2017

Debra Telford

series ordinal

2

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PubMed ID

14978038

21 September 2017

language of work or name

English

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publication date

19 February 2004

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Journal of Biological Chemistry

21 September 2017

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21 September 2017

279

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21 September 2017

18

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21 September 2017

19157-19168

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Connexins, connexons, and intercellular communication

21 September 2017

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

The cellular Internet: on-line with connexins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Structural and functional diversity of connexin genes in the mouse and human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Gap junctions, homeostasis, and injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Selective transfer of endogenous metabolites through gap junctions composed of different connexins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

The molecular basis of selective permeability of connexins is complex and includes both size and charge

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Formation of heteromeric gap junction channels by connexins 40 and 43 in vascular smooth muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Functional characteristics of heteromeric Cx40-Cx43 gap junction channel formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Connexin 26 expression and mutation analysis in epidermal disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Human diseases: clues to cracking the connexin code?

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Selective interactions among the multiple connexin proteins expressed in the vertebrate lens: the second extracellular domain is a determinant of compatibility between connexins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Expression of gap junction proteins Cx26, Cx31.1, Cx37, and Cx43 in developing and mature rat epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Heteromeric mixing of connexins: compatibility of partners and functional consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Neuronal differentiation and growth control of neuro-2a cells after retroviral gene delivery of connexin43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Retroviral delivery of connexin genes to human breast tumor cells inhibits in vivo tumor growth by a mechanism that is independent of significant gap junctional intercellular communication

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Biochemical analysis of connexin43 intracellular transport, phosphorylation, and assembly into gap junctional plaques

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Gap junction turnover, intracellular trafficking, and phosphorylation of connexin43 in brefeldin A-treated rat mammary tumor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Lysosomal and proteasomal degradation play distinct roles in the life cycle of Cx43 in gap junctional intercellular communication-deficient and -competent breast tumor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Topography of mammalian connexins in human skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Differential expression of connexins during stratification of human keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Upregulation of connexin 26 between keratinocytes of psoriatic lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

In vivo modulation of connexins 43 and 26 of human epidermis by topical retinoic acid treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Wounding alters epidermal connexin expression and gap junction-mediated intercellular communication

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Connexin mutations in skin disease and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Multiple connexin proteins in single intercellular channels: connexin compatibility and functional consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Structure of gap junction intercellular channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M314117200

21 January 2018

Identifiers

DOI

10.1074/JBC.M314117200

1 reference

21 September 2017

1 reference

PubMed ID

14978038