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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 32866991)

  • 1. 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]  

  • 2. Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome.
    Taki T; Takeichi T; Sugiura K; Akiyama M
    Sci Rep; 2018 Aug; 8(1):12824. PubMed ID: 30150638
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Differential susceptibility of Cx26 mutations associated with epidermal dysplasias to peptidoglycan derived from Staphylococcus aureus and Staphylococcus epidermidis.
    Donnelly S; English G; de Zwart-Storm EA; Lang S; van Steensel MA; Martin PE
    Exp Dermatol; 2012 Aug; 21(8):592-8. PubMed ID: 22643125
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
    Richard G; Rouan F; Willoughby CE; Brown N; Chung P; Ryynänen M; Jabs EW; Bale SJ; DiGiovanna JJ; Uitto J; Russell L
    Am J Hum Genet; 2002 May; 70(5):1341-8. PubMed ID: 11912510
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the
    Maslova EA; Orishchenko KE; Posukh OL
    Biomolecules; 2021 Jan; 11(1):. PubMed ID: 33466560
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.
    García IE; Villanelo F; Contreras GF; Pupo A; Pinto BI; Contreras JE; Pérez-Acle T; Alvarez O; Latorre R; Martínez AD; González C
    J Gen Physiol; 2018 May; 150(5):697-711. PubMed ID: 29643172
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
    Gudmundsson S; Wilbe M; Ekvall S; Ameur A; Cahill N; Alexandrov LB; Virtanen M; Hellström Pigg M; Vahlquist A; Törmä H; Bondeson ML
    Hum Mol Genet; 2017 Mar; 26(6):1070-1077. PubMed ID: 28158657
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
    Bedoukian EC; Rentas S; Skraban C; Shao Q; Treat J; Laird DW; Sullivan KE
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1574. PubMed ID: 33443819
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.
    Yotsumoto S; Hashiguchi T; Chen X; Ohtake N; Tomitaka A; Akamatsu H; Matsunaga K; Shiraishi S; Miura H; Adachi J; Kanzaki T
    Br J Dermatol; 2003 Apr; 148(4):649-53. PubMed ID: 12752120
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome.
    Neoh CY; Chen H; Ng SK; Lane EB; Common JE
    Int J Dermatol; 2009 Oct; 48(10):1078-81. PubMed ID: 19785089
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.
    Sellitto C; Li L; White TW
    Sci Rep; 2021 Dec; 11(1):24118. PubMed ID: 34916582
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.
    Mhaske PV; Levit NA; Li L; Wang HZ; Lee JR; Shuja Z; Brink PR; White TW
    Am J Physiol Cell Physiol; 2013 Jun; 304(12):C1150-8. PubMed ID: 23447037
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
    Richard G; Brown N; Ishida-Yamamoto A; Krol A
    J Invest Dermatol; 2004 Nov; 123(5):856-63. PubMed ID: 15482471
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.
    Kelly B; Lozano A; Altenberg G; Makishima T
    Int J Dermatol; 2008 May; 47(5):443-7. PubMed ID: 18412859
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
    Griffith AJ; Yang Y; Pryor SP; Park HJ; Jabs EW; Nadol JB; Russell LJ; Wasserman DI; Richard G; Adams JC; Merchant SN
    Laryngoscope; 2006 Aug; 116(8):1404-8. PubMed ID: 16885744
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes.
    Lee JR; Derosa AM; White TW
    J Invest Dermatol; 2009 Apr; 129(4):870-8. PubMed ID: 18987669
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
    Lazic T; Li Q; Frank M; Uitto J; Zhou LH
    Pediatr Dermatol; 2012; 29(3):349-57. PubMed ID: 22011219
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.