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Agustin D. Martinez et al.
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A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness
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Lysine acetylation: Codified crosstalk with other posttranslational modifications
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Posttranslational modifications in lens fiber connexins identified by off-line-HPLC MALDI-quadrupole time-of-flight mass spectrometry
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Asparaginyl hydroxylation of the notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor
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Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness
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Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule
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A novel mechanism for connexin 26 mutation linked deafness: Cell death caused by leaky gap junction hemichannels
Benjamin C. Stong et al.
LARYNGOSCOPE (2006)
Protein kinase A-mediated phosphorylation of Connexin36 in mouse retina results in decreased gap junctional communication between AII amacrine cells
Stephanie Urschel et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Mutations of connexin 26 at position 75 and dominant deafness: Essential role of arginine for the generation of functional gap-junctional channels
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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
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AMERICAN JOURNAL OF PATHOLOGY (2006)
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CIRCULATION RESEARCH (2006)
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FASEB JOURNAL (2006)
Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
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GJB2 (Connexin 26) mutations are not a major cause of hearing loss in the Indonesian population
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Impaired permeability to Ins(1,4,5)P-3 in a mutant connexin underlies recessive hereditary deafness
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ANGEWANDTE CHEMIE-INTERNATIONAL EDITION (2005)
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease
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A phenotype resembling the clouston syndrome with deafness is associated with a novel missense GJB2 mutation
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JOURNAL OF INVESTIGATIVE DERMATOLOGY (2004)
Determinants of gating polarity of a connexin 32 hemichannel
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BIOPHYSICAL JOURNAL (2004)
Tetracycline-regulated expression enables purification and functional analysis of recombinant connexin channels from mammalian cells
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BIOCHEMICAL JOURNAL (2004)
Gap junctions in the inner ear: Comparison of distribution patterns in different vertebrates and assessment of connexin composition in mammals
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JOURNAL OF COMPARATIVE NEUROLOGY (2003)
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States
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ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2003)
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CELL COMMUNICATION AND ADHESION (2003)
A method for the comprehensive proteomic analysis of membrane proteins
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NATURE BIOTECHNOLOGY (2003)
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
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HUMAN MOLECULAR GENETICS (2003)
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
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HUMAN MOLECULAR GENETICS (2003)
The application of mass spectrometry to membrane proteomics
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Functional study of GJB2 in hereditary hearing loss
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Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
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CLINICAL GENETICS (2002)
Intracellular domains of mouse connexin26 and-30 affect diffusional and electrical properties of gap junction channels
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JOURNAL OF MEMBRANE BIOLOGY (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
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BRAIN RESEARCH (2001)
Structure of the amino terminus of a gap junction protein
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Acetylation: a regulatory modification to rival phosphorylation?
T Kouzarides
EMBO JOURNAL (2000)
Connexin26 mutations associated with nonsyndromic hearing loss
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LARYNGOSCOPE (2000)