149 related articles for article (PubMed ID: 12419304)
1. Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
Common JE; Becker D; Di WL; Leigh IM; O'Toole EA; Kelsell DP
Biochem Biophys Res Commun; 2002 Nov; 298(5):651-6. PubMed ID: 12419304
[TBL] [Abstract][Full Text] [Related]
2. Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
Berger AC; Kelly JJ; Lajoie P; Shao Q; Laird DW
J Cell Sci; 2014 Apr; 127(Pt 8):1751-64. PubMed ID: 24522190
[TBL] [Abstract][Full Text] [Related]
3. A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.
Mei L; Chen J; Zong L; Zhu Y; Liang C; Jones RO; Zhao HB
Neurobiol Dis; 2017 Dec; 108():195-203. PubMed ID: 28823936
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63.
Fujimoto A; Kurban M; Nakamura M; Farooq M; Fujikawa H; Kibbi AG; Ito M; Dahdah M; Matta M; Diab H; Shimomura Y
J Dermatol Sci; 2013 Feb; 69(2):159-66. PubMed ID: 23219093
[TBL] [Abstract][Full Text] [Related]
6. Connexin mutations in hearing loss, dermatological and neurological disorders.
Rabionet R; López-Bigas N; Arbonès ML; Estivill X
Trends Mol Med; 2002 May; 8(5):205-12. PubMed ID: 12067629
[TBL] [Abstract][Full Text] [Related]
7. Cellular mechanisms of mutant connexins in skin disease and hearing loss.
Common JE; Di WL; Davies D; Galvin H; Leigh IM; O'Toole EA; Kelsell DP
Cell Commun Adhes; 2003; 10(4-6):347-51. PubMed ID: 14681040
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
Essenfelder GM; Bruzzone R; Lamartine J; Charollais A; Blanchet-Bardon C; Barbe MT; Meda P; Waksman G
Hum Mol Genet; 2004 Aug; 13(16):1703-14. PubMed ID: 15213106
[TBL] [Abstract][Full Text] [Related]
10. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
Jan AY; Amin S; Ratajczak P; Richard G; Sybert VP
J Invest Dermatol; 2004 May; 122(5):1108-13. PubMed ID: 15140211
[TBL] [Abstract][Full Text] [Related]
11. Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear.
Ortolano S; Di Pasquale G; Crispino G; Anselmi F; Mammano F; Chiorini JA
Proc Natl Acad Sci U S A; 2008 Dec; 105(48):18776-81. PubMed ID: 19047647
[TBL] [Abstract][Full Text] [Related]
12. Cx30 exhibits unique characteristics including a long half-life when assembled into gap junctions.
Kelly JJ; Shao Q; Jagger DJ; Laird DW
J Cell Sci; 2015 Nov; 128(21):3947-60. PubMed ID: 26359304
[TBL] [Abstract][Full Text] [Related]
13. Unique expression of connexins in the human cochlea.
Liu W; Boström M; Kinnefors A; Rask-Andersen H
Hear Res; 2009 Apr; 250(1-2):55-62. PubMed ID: 19450429
[TBL] [Abstract][Full Text] [Related]
14. The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Schütz M; Scimemi P; Majumder P; De Siati RD; Crispino G; Rodriguez L; Bortolozzi M; Santarelli R; Seydel A; Sonntag S; Ingham N; Steel KP; Willecke K; Mammano F
Hum Mol Genet; 2010 Dec; 19(24):4759-73. PubMed ID: 20858605
[TBL] [Abstract][Full Text] [Related]
15. Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
Di WL; Monypenny J; Common JE; Kennedy CT; Holland KA; Leigh IM; Rugg EL; Zicha D; Kelsell DP
Hum Mol Genet; 2002 Aug; 11(17):2005-14. PubMed ID: 12165562
[TBL] [Abstract][Full Text] [Related]
16. Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling.
Jagger DJ; Forge A
Cell Tissue Res; 2015 Jun; 360(3):633-44. PubMed ID: 25381570
[TBL] [Abstract][Full Text] [Related]
17. Recent insights into gap junction biogenesis in the cochlea.
Defourny J; Thiry M
Dev Dyn; 2023 Feb; 252(2):239-246. PubMed ID: 36106826
[TBL] [Abstract][Full Text] [Related]
18. Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness.
Nickel R; Forge A
Curr Opin Otolaryngol Head Neck Surg; 2008 Oct; 16(5):452-7. PubMed ID: 18797288
[TBL] [Abstract][Full Text] [Related]
19. Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.
Abrams CK; Freidin MM; Verselis VK; Bargiello TA; Kelsell DP; Richard G; Bennett MV; Bukauskas FF
Proc Natl Acad Sci U S A; 2006 Mar; 103(13):5213-8. PubMed ID: 16549784
[TBL] [Abstract][Full Text] [Related]
20. Functional studies reveal new mechanisms for deafness caused by connexin mutations.
Chang Q; Tang W; Ahmad S; Stong B; Leu G; Lin X
Otol Neurotol; 2009 Feb; 30(2):237-40. PubMed ID: 19169135
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
