GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study-Reference-Cited by-同舟云学术

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Published:2005-12 Issue:6 Volume:77 Page:945-957
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Snoeckx Rikkert L.,Huygen Patrick L.M.,Feldmann Delphine,Marlin Sandrine,Denoyelle Françoise,Waligora Jaroslaw,Mueller-Malesinska Malgorzata,Pollak Agneszka,Ploski Rafal,Murgia Alessandra,Orzan Eva,Castorina Pierangela,Ambrosetti Umberto,Nowakowska-Szyrwinska Ewa,Bal Jerzy,Wiszniewski Wojciech,Janecke Andreas R.,Nekahm-Heis Doris,Seeman Pavel,Bendova Olga,Kenna Margaret A.,Frangulov Anna,Rehm Heidi L.,Tekin Mustafa,Incesulu Armagan,Dahl Hans-Henrik M.,du Sart Desirée,Jenkins Lucy,Lucas Deirdre,Bitner-Glindzicz Maria,Avraham Karen B.,Brownstein Zippora,del Castillo Ignacio,Moreno Felipe,Blin Nikolaus,Pfister Markus,Sziklai Istvan,Toth Timea,Kelley Philip M.,Cohn Edward S.,Van Maldergem Lionel,Hilbert Pascale,Roux Anne-Françoise,Mondain Michel,Hoefsloot Lies H.,Cremers Cor W.R.J.,Löppönen Tuija,Löppönen Heikki,Parving Agnete,Gronskov Karen,Schrijver Iris,Roberson Joseph,Gualandi Francesca,Martini Alessandro,Lina-Granade Geneviève,Pallares-Ruiz Nathalie,Correia Céu,Fialho Graça,Cryns Kim,Hilgert Nele,Van de Heyning Paul,Nishimura Carla J.,Smith Richard J.H.,Van Camp Guy

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference52 articles.

1. Prevalent connexin 26 gene (GJB2) mutations in Japanese;Abe;J Med Genet,2000

2. Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice;Ahmad;Biochem Biophys Res Commun,2003

3. De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome;Alvarez;Am J Med Genet A,2003

4. Impaired permeability to ins(1,4,5)p3 in a mutant connexin underlies recessive hereditary deafness;Beltramello;Nat Cell Biol,2005

5. Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness;Bruzzone;FEBS Lett,2003

Cited by 432 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles;Children;2024-02-03

2. The multifaceted links between hearing loss and chronic kidney disease;Nature Reviews Nephrology;2024-01-29

3. A general model for two-locus assortative mating analysis and prediction;2024-01-23

4. The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates;2024-01-17

5. Oxidative stress and inflammation cause auditory system damage via glial cell activation and dysregulated expression of gap junction proteins in an experimental model of styrene-induced oto/neurotoxicity;Journal of Neuroinflammation;2024-01-04