相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。New Evidence for the Correlation of the p.G130V Mutation in the GJB2 Gene and Syndromic Hearing Loss With Palmoplantar Keratoderma
Sandra Iossa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Targeted connexin26 ablation arrests postnatal development of the organ of Corti
Yunfeng Wang et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2009)
Correlation between GJB2 mutations and audiological deficits: personal experience
Pasqualina M. Picciotti et al.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY (2009)
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
Ram Shankar Mani et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
Pio D'Adamo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
Nele Hilgert et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India
Anu Yamuna Joseph et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2009)
Connexin Mutations Causing Skin Disease and Deafness Increase Hemichannel Activity and Cell Death when Expressed in Xenopus Oocytes
Jack R. Lee et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2009)
High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss
G. Khandelwal et al.
JOURNAL OF LARYNGOLOGY AND OTOLOGY (2009)
GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
Pu Dai et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2009)
Structure of the connexin 26 gap junction channel at 3.5 Å resolution
Shoji Maeda et al.
NATURE (2009)
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness
Eugene A. de Zwart-Storm et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
Connexin26 deafness associated mutations show altered permeability to large cationic molecules
Guelistan Mese et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2008)
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
Laurence Jonard et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
Cochlear molecules and hereditary deafness
Denise Yan et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2008)
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss
T. D. Matos et al.
HEARING RESEARCH (2008)
Genetics of congenital hearing impairment: A clinical approach
Lisbeth Tranebjaerg
INTERNATIONAL JOURNAL OF AUDIOLOGY (2008)
Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation
Sharon L. Cushing et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2008)
Deafness in the developing world: the place of cochlear implantation
M. B. Tarabichi et al.
JOURNAL OF LARYNGOLOGY AND OTOLOGY (2008)
Personal reflections on the multichannel cochlear implant and a view of the future
Graeme M. Clark
JOURNAL OF REHABILITATION RESEARCH AND DEVELOPMENT (2008)
Phenotype/Genotype Correlations in a DFNB1 Cohort With Ethnical Diversity
Simon I. Angeli
LARYNGOSCOPE (2008)
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness
E. A. de Zwart-Storm et al.
JOURNAL OF MEDICAL GENETICS (2008)
Genetic diseases of junctions
Joey E. Lai-Cheong et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2007)
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates
Sonja Bouwer et al.
GENETIC TESTING (2007)
Gap junctions: Basic structure and function
Guelistan Mese et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2007)
A deafness-associated mutant human connexin 26 improves the epithelial barrier In vitro
Y. K. Stella Man et al.
JOURNAL OF MEMBRANE BIOLOGY (2007)
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness
Dwan A. Gerido et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2007)
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads
Masashi Akiyama et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2007)
Keratitis-ichthyosis-deafness syndrome:: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients
J. Mazereeuw-Hautier et al.
BRITISH JOURNAL OF DERMATOLOGY (2007)
The prevalence of the 235delC GJB2 mutation in a Chinese deaf population
Pu Dai et al.
GENETICS IN MEDICINE (2007)
Connexin 26 mutations in autosomal recessive deafness disorders: A review
Stacey A. Apps et al.
INTERNATIONAL JOURNAL OF AUDIOLOGY (2007)
A novel mechanism for connexin 26 mutation linked deafness: Cell death caused by leaky gap junction hemichannels
Benjamin C. Stong et al.
LARYNGOSCOPE (2006)
Molecular and physiological bases of the K+ circulation in the mammalian inner ear
Hiroshi Hibino et al.
PHYSIOLOGY (2006)
Effects of GJB2 genotypes on the audiological phenotype:: Variability is present for all genotypes
Burcu Oeztuerk Hismi et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2006)
A novel N14Y mutation in connexin26 in keratitislchthylosis-deafness syndrome - Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26
Ken Arita et al.
AMERICAN JOURNAL OF PATHOLOGY (2006)
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome
Andrew J. Griffith et al.
LARYNGOSCOPE (2006)
Non-syndromic, autosomal-recessive deafness
MB Petersen et al.
CLINICAL GENETICS (2006)
Compartmentalized and signal-selective gap junctional coupling in the hearing cochlea
DJ Jagger et al.
JOURNAL OF NEUROSCIENCE (2006)
Gap junctions and cochlear homeostasis
H. -B. Zhao et al.
JOURNAL OF MEMBRANE BIOLOGY (2006)
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss
A Alvarez et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
G59S mutation in the GJB2 (Connexin 26) gene in a patient with Bart-Pumphrey syndrome
F Alexandrino et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
In vitro and in vivo suppression of GJB2 expression by RNA interference
Y Maeda et al.
HUMAN MOLECULAR GENETICS (2005)
Gap junction- and hemichannel-independent actions of connexins
JX Jiang et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2005)
Connexin-based gap junction hemichannels:: Gating mechanisms
JC Sáez et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2005)
Connexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communications
HB Zhao
EUROPEAN JOURNAL OF NEUROSCIENCE (2005)
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form
AR Janecke et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Clinical features of patients with GJB2 (connexin 26) mutations:: severity of hearing loss is correlated with genotypes and protein expression patterns
T Oguchi et al.
JOURNAL OF HUMAN GENETICS (2005)
Impaired permeability to Ins(1,4,5)P-3 in a mutant connexin underlies recessive hereditary deafness
M Beltramello et al.
NATURE CELL BIOLOGY (2005)
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation
NJ Leonard et al.
JOURNAL OF MEDICAL GENETICS (2005)
Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations
T Thomas et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Expression of the connexin43-and connexin45-encoding genes in the developing and mature mouse inner ear
M Cohen-Salmon et al.
CELL AND TISSUE RESEARCH (2004)
Connexin disorders of the ear, skin, and lens
DA Gerido et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2004)
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
K Cryns et al.
JOURNAL OF MEDICAL GENETICS (2004)
Clinical application of genetic testing for deafness
RJH Smith
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad
JR Montgomery et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2004)
A phenotype resembling the clouston syndrome with deafness is associated with a novel missense GJB2 mutation
MAM van Steensel et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2004)
Gap junction diseases of the skin
MAM van Steensel
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2004)
Expanding the phenotypic spectrum of Cx26 disorders:: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2
G Richard et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2004)
Gap junctions in the inner ear: Comparison of distribution patterns in different vertebrates and assessment of connexin composition in mammals
A Forge et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2003)
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness
CW Brown et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2003)
New roles for astrocytes:: Gap junction hemichannels have something to communicate
MVL Bennett et al.
TRENDS IN NEUROSCIENCES (2003)
The role of connexins in human disease
EH Chang et al.
EAR AND HEARING (2003)
Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice
S Ahmad et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders
G Bakirtzis et al.
HUMAN MOLECULAR GENETICS (2003)
Transport and function of Cx26 mutants involved in skin and deafness disorders
T Thomas et al.
CELL COMMUNICATION AND ADHESION (2003)
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
T Kudo et al.
HUMAN MOLECULAR GENETICS (2003)
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
NK Marziano et al.
HUMAN MOLECULAR GENETICS (2003)
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome
S Yotsumoto et al.
BRITISH JOURNAL OF DERMATOLOGY (2003)
Beyond the gap: Functions of unpaired connexon channels
DA Goodenough et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2003)
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness
R Bruzzone et al.
FEBS LETTERS (2003)
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
D Yan et al.
HUMAN GENETICS (2003)
Selection for deafness?
CG Meyer et al.
NATURE MEDICINE (2002)
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
O Uyguner et al.
CLINICAL GENETICS (2002)
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
M Cohen-Salmon et al.
CURRENT BIOLOGY (2002)
K+ cycling and its regulation in the cochlea and the vestibular labyrinth
P Wangemann
AUDIOLOGY AND NEURO-OTOLOGY (2002)
HID and KID syndromes are associated with the same connexin 26 mutation
M Van Geel et al.
BRITISH JOURNAL OF DERMATOLOGY (2002)
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
G Richard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome
A Gilliam et al.
PEDIATRIC DERMATOLOGY (2002)
A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome
MAM van Steensel et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2002)
Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome
YM Szymko-Bennett et al.
LARYNGOSCOPE (2002)
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
I del Castillo et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
Emerging issues of connexin channels: biophysics fills the gap
AL Harris
QUARTERLY REVIEWS OF BIOPHYSICS (2001)
Nonradioactive detection. of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews
JL Dong et al.
MOLECULAR GENETICS AND METABOLISM (2001)
Connexin 26 expression and mutation analysis in epidermal disease
WL Di 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)
Expression of connexin 31 in the developing mouse cochlea
AP Xia et al.
NEUROREPORT (2000)
Functional analysis of human Cx26 mutations associated with deafness
TW White
BRAIN RESEARCH REVIEWS (2000)
Gap junction systems in the mammalian cochlea
T Kikuchi et al.
BRAIN RESEARCH REVIEWS (2000)
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
DP Kelsell et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (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)
Prevalent connexin 26 gene (GJB2) mutations in Japanese
S Abe et al.
JOURNAL OF MEDICAL GENETICS (2000)
分享论文
