Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss

scientific article published in June 2013

Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S12013-012-9481-8
P698PubMed publication ID23179405
P5875ResearchGate publication ID233769421

P2093author name stringJiann-Jou Yang
Shuan-Yow Li
Yung-Chang Yen
Ching-Chyuan Su
Wei-Guang Liang
Jhih-Hao Nian
P2860cites workStructure of the connexin 26 gap junction channel at 3.5 A resolutionQ27654539
Asymmetric Configurations and N-terminal Rearrangements in Connexin26 Gap Junction ChannelsQ27666014
Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12Q28115539
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?Q28207515
Expression of the gap-junction connexins 26 and 30 in the rat cochleaQ28287580
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairmentQ28290745
Connexin29 is highly expressed in cochlear Schwann cells, and it is required for the normal development and function of the auditory nerve of miceQ28511260
The mouse gap junction gene connexin29 is highly expressed in sciatic nerve and regulated during brain developmentQ28585793
Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologuesQ28609865
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing lossQ30430067
Gap junctional hemichannel-mediated ATP release and hearing controls in the inner earQ30476549
At the speed of sound: gene discovery in the auditory systemQ30502974
Genetic causes of hearing lossQ33888999
Identification of a pore lining segment in gap junction hemichannels.Q33915360
Physiological effects of extracellular nucleotides in the inner ear.Q33972508
Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlationQ34123564
Structural and functional diversity of connexin genes in the mouse and human genomeQ34137753
Hereditary deafness and phenotyping in humansQ34151674
Molecular genetics of hearing lossQ34432273
Gap junction structures. VI. Variation and conservation in connexon conformation and packingQ34536161
Genetics, genomics and gene discovery in the auditory systemQ34641659
Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism methodQ34995856
A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing lossQ35010482
Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibuleQ35830244
The vertebrate connexin familyQ36433664
Ca2+ signaling in the inner ear.Q36786260
Genetic epidemiology of hearing impairmentQ37519270
A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32Q37599135
Structural and functional studies of gap junction channelsQ37764588
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in GhanaQ39042985
Connections with connexins: the molecular basis of direct intercellular signalingQ41006464
Connexin 32 of gap junctions contains two cytoplasmic calmodulin-binding domainsQ41811628
Strial dysfunction in mice with cochleo-saccular abnormalitiesQ42522892
The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequencyQ42527121
Structure of the amino terminus of a gap junction proteinQ42635668
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafnessQ44884995
Rapid determination of gap junction formation using HeLa cells microinjected with cDNAs encoding wild-type and chimeric connexinsQ47907121
Connexin 26 gene linked to a dominant deafnessQ47991729
Evidence for a medial K+ recycling pathway from inner hair cellsQ48028798
ConSeq: the identification of functionally and structurally important residues in protein sequencesQ48559824
Opposite voltage gating polarities of two closely related connexinsQ49110748
Expression of connexin 31 in the developing mouse cochlea.Q50495003
Human connexin30.2/31.3 (GJC3) does not form functional gap junction channels but causes enhanced ATP release in HeLa cells.Q50523078
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.Q51995942
Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea.Q54635275
P433issue2
P921main subjecthearing lossQ16035842
P304page(s)277-286
P577publication date2013-06-01
P1433published inCell Biochemistry and BiophysicsQ15755135
P1476titleMechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss
P478volume66

Reverse relations

cites work (P2860)
Q60938845Cancer Connectors: Connexins, Gap Junctions, and Communication
Q34447196Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication
Q41838330Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene
Q28550067Simvastatin Sodium Salt and Fluvastatin Interact with Human Gap Junction Gamma-3 Protein

Search more.