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 *

218 related articles for article (PubMed ID: 33807656)

  • 1. The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
    Bailey RA; Beahm DL; Skerrett IM
    Int J Mol Sci; 2021 Mar; 22(5):. PubMed ID: 33807656
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Conserved glycine at position 45 of major cochlear connexins constitutes a vital component of the Ca²⁺ sensor for gating of gap junction hemichannels.
    Zhang Y; Hao H
    Biochem Biophys Res Commun; 2013 Jul; 436(3):424-9. PubMed ID: 23756814
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
    Easton JA; Albuloushi AK; Kamps MAF; Brouns GHMR; Broers JLV; Coull BJ; Oji V; van Geel M; van Steensel MAM; Martin PE
    Exp Dermatol; 2019 Oct; 28(10):1106-1113. PubMed ID: 29570224
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice.
    Press E; Alaga KC; Barr K; Shao Q; Bosen F; Willecke K; Laird DW
    Cell Death Dis; 2017 Jun; 8(6):e2845. PubMed ID: 28569788
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.
    Takeichi T; Sugiura K; Hsu CK; Nomura T; Takama H; Simpson MA; Shimizu H; McGrath JA; Akiyama M
    Acta Derm Venereol; 2016 May; 96(4):557-9. PubMed ID: 26632638
    [No Abstract]   [Full Text] [Related]  

  • 6. Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3.
    Kokotas H; Papagiannaki K; Grigoriadou M; Petersen MB; Katsarou A
    Eur J Dermatol; 2012; 22(2):182-6. PubMed ID: 22266302
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.
    Gerido DA; DeRosa AM; Richard G; White TW
    Am J Physiol Cell Physiol; 2007 Jul; 293(1):C337-45. PubMed ID: 17428836
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
    Fuchs-Telem D; Pessach Y; Mevorah B; Shirazi I; Sarig O; Sprecher E
    Clin Exp Dermatol; 2011 Jun; 36(4):406-11. PubMed ID: 21564177
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Erythrokeratodermia variabilis et progressiva.
    Ishida-Yamamoto A
    J Dermatol; 2016 Mar; 43(3):280-5. PubMed ID: 26945536
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
    Richard G; Brown N; Rouan F; Van der Schroeff JG; Bijlsma E; Eichenfield LF; Sybert VP; Greer KE; Hogan P; Campanelli C; Compton JG; Bale SJ; DiGiovanna JJ; Uitto J
    J Invest Dermatol; 2003 Apr; 120(4):601-9. PubMed ID: 12648223
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.
    Mese G; Sellitto C; Li L; Wang HZ; Valiunas V; Richard G; Brink PR; White TW
    Mol Biol Cell; 2011 Dec; 22(24):4776-86. PubMed ID: 22031297
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels.
    Manthey D; Banach K; Desplantez T; Lee CG; Kozak CA; Traub O; Weingart R; Willecke K
    J Membr Biol; 2001 May; 181(2):137-48. PubMed ID: 11420600
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
    Tang C; Chen X; Chi J; Yang D; Liu S; Liu M; Pan Q; Fan J; Wang D; Zhang Z
    Hum Mol Genet; 2015 Nov; 24(21):6054-65. PubMed ID: 26251042
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.
    Plantard L; Huber M; Macari F; Meda P; Hohl D
    Hum Mol Genet; 2003 Dec; 12(24):3287-94. PubMed ID: 14583444
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV).
    Schnichels M; Wörsdörfer P; Dobrowolski R; Markopoulos C; Kretz M; Schwarz G; Winterhager E; Willecke K
    Hum Mol Genet; 2007 May; 16(10):1216-24. PubMed ID: 17446259
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.