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Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels
X Xu et al.
JOURNAL OF MEMBRANE BIOLOGY (2002)
Connexin 26 in human fetal development of the inner ear
K Kammen-Jolly et al.
HEARING RESEARCH (2001)
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
O Dubourg et al.
BRAIN (2001)
Connexin 26 studies in patients with sensorineural hearing loss
MA Kenna et al.
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2001)
Heterotypic docking of Cx43 and Cx45 connexons blocks fast voltage gating of Cx43
S Elenes et al.
BIOPHYSICAL JOURNAL (2001)
Identification of connexin43 (α1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)
C Dasgupta et al.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2001)
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families
S Rickard et al.
JOURNAL OF MEDICAL GENETICS (2001)
Connexin 26 gene mutations in congenitally deaf children -: Pitfalls for genetic counseling
S Marlin et al.
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2001)
Emerging issues of connexin channels: biophysics fills the gap
AL Harris
QUARTERLY REVIEWS OF BIOPHYSICS (2001)
Assembly of gap junction channels - Mechanism, effects of calmodulin antagonists and identification of connexin oligomerization determinants
S Ahmad et al.
EUROPEAN JOURNAL OF BIOCHEMISTRY (2001)
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease
CK Abrams et al.
BRAIN RESEARCH (2001)
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness
M Tekin et al.
CLINICAL GENETICS (2001)
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
J Löffler et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
Connexin-43 interactions with ZO-1 and alpha- and beta-tubulin
BNG Giepmans et al.
CELL COMMUNICATION AND ADHESION (2001)
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness
R Bruzzone et al.
CELL COMMUNICATION AND ADHESION (2001)
Regulation of gap junctions by phosphorylation of connexins
PD Lampe et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2000)
Structure of the amino terminus of a gap junction protein
PEM Purnick et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2000)
Myelination defects and neuronal hyperexcitability in the neocortex of connexin 32-deficient mice
B Sutor et al.
CEREBRAL CORTEX (2000)
Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins
JK Vanslyke et al.
MOLECULAR BIOLOGY OF THE CELL (2000)
Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease
C Ressot et al.
BRAIN RESEARCH REVIEWS (2000)
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss
L Morlé et al.
JOURNAL OF MEDICAL GENETICS (2000)
Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease
CK Abrams et al.
BRAIN RESEARCH REVIEWS (2000)
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease
PEM Martin et al.
JOURNAL OF NEUROCHEMISTRY (2000)
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
K Heathcote et al.
JOURNAL OF MEDICAL GENETICS (2000)