Back to search

Functional Domain Mapping and Selective Trans-dominant Effects Exhibited by Cx26 Disease-causing Mutations

Data up to Jan 2025

Published2004
Citations85
References62

Total Citations Per Year

Abstract

References (62)

Junctional intercellular communication: the cell-to-cell membrane channel.

1981 • 1,268 citations

CONNEXINS, CONNEXONS, AND INTERCELLULAR COMMUNICATION

1996 • 1,180 citations

Structural and Functional Diversity of Connexin Genes in the Mouse and Human Genome

2002 • 1,157 citations

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

1995 • 821 citations

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

1991 • 705 citations

Targeted Ablation of Connexin26 in the Inner Ear Epithelial Gap Junction Network Causes Hearing Impairment and Cell Death

2002 • 428 citations

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1998 • 343 citations

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

1999 • 320 citations

Isoform Composition of Connexin Channels Determines Selectivity among Second Messengers and Uncharged Molecules

1998 • 307 citations

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

1999 • 304 citations

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

1994 • 286 citations

Transplacental Uptake of Glucose Is Decreased in Embryonic Lethal Connexin26-deficient Mice

1998 • 280 citations

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

1998 • 277 citations

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

1995 • 263 citations

Selective permeability of different connexin channels to the second messenger inositol 1,4,5-trisphosphate

2000 • 219 citations

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

2002 • 204 citations

The Pattern of Disulfide Linkages in the Extracellular Loop Regions of Connexin 32 Suggests a Model for the Docking Interface of Gap Junctions

1998 • 202 citations

Clinical Studies of Families With Hearing Loss Attributable to Mutations in the Connexin 26 Gene (GJB2/DFNB1)

1999 • 202 citations

The cellular internet: On‐line with connexins

1996 • 201 citations

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

2000 • 201 citations

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

1995 • 198 citations

Deficiency of connexin43 gap junctions is an independent marker for breast tumors.

1999 • 196 citations

Structure of gap junction intercellular channels

1996 • 195 citations

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

1996 • 191 citations

Evidence for heteromeric gap junction channels formed from rat connexin43 and human connexin37

1997 • 191 citations

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

1999 • 182 citations

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

2001 • 182 citations

The Gap Junction Proteins β1-Connexin (Connexin-32) and β2-Connexin (Connexin-26) Can Form Heteromeric Hemichannels

1995 • 171 citations

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

2003 • 169 citations

Multiple Epidermal Connexins are Expressed in Different Keratinocyte Subpopulations Including Connexin 31

2001 • 154 citations

Connexin Mutations in Skin Disease and Hearing Loss

2001 • 152 citations

Lysosomal and Proteasomal Degradation Play Distinct Roles in the Life Cycle of Cx43 in Gap Junctional Intercellular Communication-deficient and -competent Breast Tumor Cells

2003 • 152 citations

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

1994 • 147 citations

Upregulation of Connexin 26 is a Feature of Keratinocyte Differentiation in Hyperproliferative Epidermis, Vaginal Epithelium, and Buccal Epithelium

1999 • 139 citations

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

2000 • 138 citations

Gap junctions, homeostasis, and injury

2002 • 136 citations

Topography of Mammalian Connexins in Human Skin

1994 • 135 citations

Characterization of gap junction genes expressed in F9 embryonic carcinoma cells: molecular cloning of mouse connexin31 and -45 cDNAs.

1992 • 131 citations

Human diseases: clues to cracking the connexin code?

2001 • 122 citations

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

1992 • 120 citations

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

2000 • 119 citations

Expression of chimeric connexins reveals new properties of the formation and gating behavior of gap junction channels

1994 • 118 citations

Upregulation of Connexin 26 Between Keratinocytes of Psoriatic Lesions

1998 • 111 citations

Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin.

1994 • 108 citations

Roles of Met-34, Cys-64, and Arg-75 in the Assembly of Human Connexin 26

2003 • 100 citations

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

1992 • 99 citations

Vesicular stomatitis virus G pseudotyped retrovector mediates effective in vivo suicide gene delivery in experimental brain cancer.

1999 • 91 citations

Synthesis and assembly of connexins in vitro into homomeric and heteromeric functional gap junction hemichannels

1999 • 80 citations

Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene

2000 • 78 citations

Neuronal Differentiation and Growth Control of Neuro-2a Cells After Retroviral Gene Delivery of Connexin43

2000 • 76 citations

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

2003 • 73 citations

Differential Expression of Connexins During Stratification of Human Keratinocytes

2000 • 72 citations

Changing patterns of gap junctional intercellular communication and connexin distribution in mouse epidermis and hair follicles during embryonic development

1997 • 63 citations

In Vivo Modulation of Connexins 43 and 26 of Human Epidermis by Topical Retinoic Acid Treatment

1997 • 56 citations

Heteromeric Mixing of Connexins: Compatibility of Partners and Functional Consequences

2001 • 45 citations

Connexin 26: required for normal auditory function

2000 • 34 citations

Connexin 26 Expression and Mutation Analysis in Epidermal Disease

2001 • 30 citations

Heteromeric gap junction channels in rat hepatocytes in which the expression of connexin26 is induced.

1998 • 28 citations

Heteromeric Gap Junction Channels in Rat Hepatocytes in Which the Expression of Connexin26 is Induced

1998 • 25 citations

Modulation of gap junction expression during transient hyperplasia of rat epidermis

1998 • 23 citations

Immunohistochemical analysis of rat liver using a monoclonal antibody (HAM8) against gap junction

1993 • 19 citations

Functional Characteristics of Heteromeric Cx40-Cx43 Gap Junction Channel Formation

2001 • 15 citations

Cited By (0)

Loading...