Your search matched a total of 40 documents. Results 1 - 10.
Mus musculus
Gene: ... High impact information on Gjb3 Within the connexin family, these two proteins are most closely... channels, and degradation of mutant Cx31 protein. Biological context of Gjb3 To study the function of this gene in mice, we generated animals with targeted replacement of the Cx31 gene( Gjb3) by a lacZ reporter... / Synonyms: Gjb-3
Rattus norvegicus
Gene: ... Disease relevance of Gjb3 For functional promoter analysis, the rat choriocarcinoma cell line Rcho... information on Gjb3 Molecular cloning and characterization of a new member of the gap junction gene family..., expression of Gjb3 in embryonic stem cells depended on the basal promoter together with the intron. Thus...
Homo sapiens
Gene: ... for connexin 31( Cx31) have been reported in some but not all families. The expression of GJB3 and KCNQ4...Disease relevance of GJB3 These findings suggest that mutations in GJB3 may be responsible... and a nonsense mutation of GJB3 were associated with high- frequency hearing loss in two families. Peripheral...
MeSH term: ... for at least some cases of RTS. GJB3 was mapped to human chromosome 1p33- p35. Analytical, diagnostic... for Huntington disease. Here we show the expression analysis of all identifiable murine orthologues of human...
MeSH term: ... that mutations in GJB3 may be responsible for bilateral high- frequency hearing impairment. In contrast, TR beta... at all frequencies tested. Blood viscosity as a factor in sensorineural hearing impairment. A gene...
MeSH term: ... Disease relevance of Gap Junctions To study the possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene( GJB3) encoding human gap junction... specificity of gap junctions. All these synapses require the gap junction protein connexin36( Cx36) for robust...
MeSH term: ... that hearing impairment due to GJB3 mutations involves alterations in both the cochlea and the auditory nerve... in noise- induced hearing loss. RESULTS: All patients presented with sensorineural deafness, Mondini...
MeSH term: ... hypomyelinating neuropathy. Peripheral neuropathy is the third phenotypic alteration linked to GJB3 mutations..., all patients with PLP1 null mutations had peripheral neuropathy. Hypogonadotropic hypogonadism...
Links to contributing authors:
Steven Johnsen and Donald R. Forsdyke and Kehinde Ross and Andrew Perry and Jonathan Eisen and A. Shimabukuro-Vornhagen and Giuseppe Rotondo and Gordon Laurie and Berkley Lynch and Kung-Hao Liang and Matthias Gstaiger and Thomas Pfeiffer and Marta Ramirez and Grant MacGregor and Jingyu Li and Fedik Rahimov and M El Gizouli and Marta Ramirez Gaite and Oswaldo Ribeiro-filho and Ralf Weigel and Bjoern Hamberger and Alexander Kanitz and Andreas Zankl and Chunming Ding and Maruf Yunus and Jonathan S. Berg and Michael Cariaso and Zakir Thomas and Monique Timberlake-Brady and LC Dore and Nan Shen and R. Eric Collins and Kuang-Mao Chiang and Brendan McMahon and John Chew and Wen-Ming Yang and Robert Hoffmann and J.B. Stewart and Manuela Cucerea and Ignacio García and William James and Thomas Kelder and Gregory Melahn and YINGDE ZHU and Andres Muro and Gabriel Santpere and Jeff Freilich and Junbin Qian and Steffen Poulsen and Eric Villard and Rafael Sidi and Grant Cramer and Chris Sander and Alexandre Chigaev and Florian Uhle and Carl Fulp and Andrew Brown and Xiaozhu Zhou and Corina Dutu and Hilary Spencer and david germano and Abbas Dehghan and Eung-ju PARK and Chris Sander and Albert Vilella and Miao Tian and Anjali Bheda and Michael Nevels and Jun Liu and D Delano and Chitose Taya and Soomi Cheong and David Kavanagh and Maha Karnoub and Hilmar Lapp and Christian Pallasch and Daniel Mietchen and Biju Balakrishnan and Keith Ashman and Juan Carlos Sobrino and Anshu Bhardwaj and Grzegorz Wickiel and Matthew Day and Anthony Sebastian and Vedran Katavic and Liang Long and Barry Wanner and Sarah Snelling and Fernando Montanes and Omobosede Fashedemi and Gustavo Cervantes and Manoj Kumar and Edward D Great and Paul Paukstelis and Roy Soetikno and Ana I Caño-Delgado and Minsoo Choi and Lei Wang and Brenda Riley and A Michelle Moon and Jon Moulton and Mahmoud Elshahawy and Meagan Gillespie and Banundari Rachmawati and Qian Han and Eric Danner and Xavier Fouillet and Madhusudhan Acharya and Brian Young and Chandra Sekhar Mukhopadhyay and shrawan bhattacharjee and Marieke van der Linden and cj hoban and Sandi Pniauskas and jackie gao and Metin Bilgin and Gillian L. Dalgliesh and Karl Wotton and Iveta Herichova and Yuji Morita and Marta Hernandez and Gregor Krings and Marco Briones and Tim D. Smith and Yiumo Michael Chan and Zhenyu Guo and Barry Barclay and Hong Wang and tarali chowdhury and Tilman Brummer and Nuno Faria and Tamir Ben David and Myles Axton and Yannick Fonseca and Francis Castets and Modesto Redrejo-Rodríguez and Bruce Herron and Toshio Fujita and Elena Puccetti and Zhang Zhang and John Osborne and Illes J Farkas and Fernando Andres and Phyllis Pugh and Jonathan Court and Tim Vickers and Nir Friedman and Holger Dick and Ya-Chen Liang and Jonathan Froehlich and Haitham Sobhy and David Abraham and Stephane Krief and Yaroslav Nikolaev and Qiping Feng and d gupta and R Thapar and Susan Wee and Michael Rehman and SOUMITRA GHOSH and Mohamed Eweida and Cedric Uytingco and Nie hongchuan and David Steenblock and Mark A. Kukucka and Zoli Fekete and Sergei Kozlov and Javier Jara and Osama Naguib and Felix Benninger and jean-marc lo-guidice and VASUDEVA BHAT and Anne O. Summers and Bjoern Titz and Anna Levine and Klas Udekwu and Robert Hoffmann
