These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Marziano NK; Casalotti SO; Portelli AE; Becker DL; Forge A Hum Mol Genet; 2003 Apr; 12(8):805-12. PubMed ID: 12668604 [TBL] [Abstract][Full Text] [Related]
3. Mechanisms of Cx43 and Cx26 transport to the plasma membrane and gap junction regeneration. Thomas T; Jordan K; Simek J; Shao Q; Jedeszko C; Walton P; Laird DW J Cell Sci; 2005 Oct; 118(Pt 19):4451-62. PubMed ID: 16159960 [TBL] [Abstract][Full Text] [Related]
4. Transport and function of cx26 mutants involved in skin and deafness disorders. Thomas T; Aasen T; Hodgins M; Laird DW Cell Commun Adhes; 2003; 10(4-6):353-8. PubMed ID: 14681041 [TBL] [Abstract][Full Text] [Related]
5. trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. Rouan F; White TW; Brown N; Taylor AM; Lucke TW; Paul DL; Munro CS; Uitto J; Hodgins MB; Richard G J Cell Sci; 2001 Jun; 114(Pt 11):2105-13. PubMed ID: 11493646 [TBL] [Abstract][Full Text] [Related]
6. The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30. Forge A; Marziano NK; Casalotti SO; Becker DL; Jagger D Cell Commun Adhes; 2003; 10(4-6):341-6. PubMed ID: 14681039 [TBL] [Abstract][Full Text] [Related]
7. Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. García IE; Maripillán J; Jara O; Ceriani R; Palacios-Muñoz A; Ramachandran J; Olivero P; Perez-Acle T; González C; Sáez JC; Contreras JE; Martínez AD J Invest Dermatol; 2015 May; 135(5):1338-1347. PubMed ID: 25625422 [TBL] [Abstract][Full Text] [Related]
8. Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. Zhang J; Scherer SS; Yum SW Mol Cell Neurosci; 2011 Jun; 47(2):71-8. PubMed ID: 21040787 [TBL] [Abstract][Full Text] [Related]
9. Functional analysis of connexin-26 mutants associated with hereditary recessive deafness. Wang HL; Chang WT; Li AH; Yeh TH; Wu CY; Chen MS; Huang PC J Neurochem; 2003 Feb; 84(4):735-42. PubMed ID: 12562518 [TBL] [Abstract][Full Text] [Related]
10. Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss. Press ER; Shao Q; Kelly JJ; Chin K; Alaga A; Laird DW J Biol Chem; 2017 Jun; 292(23):9721-9732. PubMed ID: 28428247 [TBL] [Abstract][Full Text] [Related]
11. Multiple pathways in the trafficking and assembly of connexin 26, 32 and 43 into gap junction intercellular communication channels. Martin PE; Blundell G; Ahmad S; Errington RJ; Evans WH J Cell Sci; 2001 Nov; 114(Pt 21):3845-55. PubMed ID: 11719551 [TBL] [Abstract][Full Text] [Related]
12. Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix. Ambrosi C; Walker AE; Depriest AD; Cone AC; Lu C; Badger J; Skerrett IM; Sosinsky GE PLoS One; 2013; 8(8):e70916. PubMed ID: 23967136 [TBL] [Abstract][Full Text] [Related]
13. Asparagine 175 of connexin32 is a critical residue for docking and forming functional heterotypic gap junction channels with connexin26. Nakagawa S; Gong XQ; Maeda S; Dong Y; Misumi Y; Tsukihara T; Bai D J Biol Chem; 2011 Jun; 286(22):19672-81. PubMed ID: 21478159 [TBL] [Abstract][Full Text] [Related]
14. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Maestrini E; Korge BP; Ocaña-Sierra J; Calzolari E; Cambiaghi S; Scudder PM; Hovnanian A; Monaco AP; Munro CS Hum Mol Genet; 1999 Jul; 8(7):1237-43. PubMed ID: 10369869 [TBL] [Abstract][Full Text] [Related]
15. Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. Yum SW; Zhang J; Scherer SS Neurobiol Dis; 2010 May; 38(2):226-36. PubMed ID: 20096356 [TBL] [Abstract][Full Text] [Related]
16. Differentiation of organotypic epidermis in the presence of skin disease-linked dominant-negative Cx26 mutants and knockdown Cx26. Thomas T; Shao Q; Laird DW J Membr Biol; 2007 Jun; 217(1-3):93-104. PubMed ID: 17638039 [TBL] [Abstract][Full Text] [Related]
18. Pathogenetic role of the deafness-related M34T mutation of Cx26. Bicego M; Beltramello M; Melchionda S; Carella M; Piazza V; Zelante L; Bukauskas FF; Arslan E; Cama E; Pantano S; Bruzzone R; D'Andrea P; Mammano F Hum Mol Genet; 2006 Sep; 15(17):2569-87. PubMed ID: 16849369 [TBL] [Abstract][Full Text] [Related]
19. A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies. Albuloushi A; Lovgren ML; Steel A; Yeoh Y; Waters A; Zamiri M; Martin PE Exp Dermatol; 2020 Oct; 29(10):970-979. PubMed ID: 32866991 [TBL] [Abstract][Full Text] [Related]
20. Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. Choi SY; Park HJ; Lee KY; Dinh EH; Chang Q; Ahmad S; Lee SH; Bok J; Lin X; Kim UK Hum Mutat; 2009 Jul; 30(7):E716-27. PubMed ID: 19384972 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]