Plasma membrane channels formed by connexins: their regulation and functions

JC Sáez, VM Berthoud, MC Branes… - Physiological …, 2003 - journals.physiology.org
Sáez, Juan C., Viviana M. Berthoud, María C. Brañes, Agustín D. Martínez, and Eric C.
Beyer. Plasma Membrane Channels Formed by Connexins: Their Regulation and Functions …

[HTML][HTML] Regulation of connexin biosynthesis, assembly, gap junction formation, and removal

D Segretain, MM Falk - Biochimica et Biophysica Acta (BBA) …, 2004 - Elsevier
Gap junctions (GJs) are the only known cellular structures that allow a direct transfer of
signaling molecules from cell-to-cell by forming hydrophilic channels that bridge the …

[HTML][HTML] GJB2 mutations and degree of hearing loss: a multicenter study

RL Snoeckx, PLM Huygen, D Feldmann… - The American Journal of …, 2005 - cell.com
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common
congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in …

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

C Liu, B Tang, Q Pan, L Huang, H Dai, B Zhang… - Nature …, 1998 - nature.com
Hearing impairment is the most commonly occurring condition that affects the ability of
humans to communicate 1. More than 50% of the cases of profound early-onset deafness …

Three-dimensional structure of a recombinant gap junction membrane channel

VM Unger, NM Kumar, NB Gilula, M Yeager - Science, 1999 - science.org
Gap junction membrane channels mediate electrical and metabolic coupling between
adjacent cells. The structure of a recombinant cardiac gap junction channel was determined …

Hereditary deafness and phenotyping in humans

M Bitner-Glindzicz - British medical bulletin, 2002 - academic.oup.com
Hereditary deafness has proved to be extremely heterogeneous genetically with more than
40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal …

Molecular genetics of hearing loss

C Petit, J Levilliers, JP Hardelin - Annual review of genetics, 2001 - annualreviews.org
▪ Abstract Hereditary isolated hearing loss is genetically highly heterogeneous. Over 100
genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 …

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

A Grifa, CA Wagner, L D'Ambrosio, S Melchionda… - Nature …, 1999 - nature.com
correspondence 16 nature genetics• volume 23• september 1999 light of speculation that
some form of DNA rearrangement is involved during the selective expression of individual …

Genetic diseases and gene knockouts reveal diverse connexin functions

TW White, DL Paul - Annual review of physiology, 1999 - annualreviews.org
▪ Abstract Intercellular channels present in gap junctions allow cells to share small
molecules and thus coordinate a wide range of behaviors. Remarkably, although junctions …

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

K Cryns, E Orzan, A Murgia, PLM Huygen… - Journal of medical …, 2004 - jmg.bmj.com
Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal
recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene …