BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

189 related articles for article (PubMed ID: 22713807)

  • 1. A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
    Guida V; Ferese R; Rocchetti M; Bonetti M; Sarkozy A; Cecchetti S; Gelmetti V; Lepri F; Copetti M; Lamorte G; Cristina Digilio M; Marino B; Zaza A; den Hertog J; Dallapiccola B; De Luca A
    Eur J Hum Genet; 2013 Jan; 21(1):69-75. PubMed ID: 22713807
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
    Soemedi R; Topf A; Wilson IJ; Darlay R; Rahman T; Glen E; Hall D; Huang N; Bentham J; Bhattacharya S; Cosgrove C; Brook JD; Granados-Riveron J; Setchfield K; Bu'lock F; Thornborough C; Devriendt K; Breckpot J; Hofbeck M; Lathrop M; Rauch A; Blue GM; Winlaw DS; Hurles M; Santibanez-Koref M; Cordell HJ; Goodship JA; Keavney BD
    Hum Mol Genet; 2012 Apr; 21(7):1513-20. PubMed ID: 22199024
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.
    Gollob MH; Jones DL; Krahn AD; Danis L; Gong XQ; Shao Q; Liu X; Veinot JP; Tang AS; Stewart AF; Tesson F; Klein GJ; Yee R; Skanes AC; Guiraudon GM; Ebihara L; Bai D
    N Engl J Med; 2006 Jun; 354(25):2677-88. PubMed ID: 16790700
    [TBL] [Abstract][Full Text] [Related]  

  • 4. HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.
    Wang J; Hu XQ; Guo YH; Gu JY; Xu JH; Li YJ; Li N; Yang XX; Yang YQ
    Pediatr Cardiol; 2017 Mar; 38(3):547-557. PubMed ID: 27942761
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.
    Silversides CK; Lionel AC; Costain G; Merico D; Migita O; Liu B; Yuen T; Rickaby J; Thiruvahindrapuram B; Marshall CR; Scherer SW; Bassett AS
    PLoS Genet; 2012; 8(8):e1002843. PubMed ID: 22912587
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cloning and functional expression of a novel human connexin-25 gene.
    Bondarev I; Vine A; Bertram JS
    Cell Commun Adhes; 2001; 8(4-6):167-71. PubMed ID: 12064583
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cataract-associated D3Y mutation of human connexin46 (hCx46) increases the dye coupling of gap junction channels and suppresses the voltage sensitivity of hemichannels.
    Schlingmann B; Schadzek P; Busko S; Heisterkamp A; Ngezahayo A
    J Bioenerg Biomembr; 2012 Oct; 44(5):607-14. PubMed ID: 22843197
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prevalence and spectrum of GJA5 mutations associated with lone atrial fibrillation.
    Shi HF; Yang JF; Wang Q; Li RG; Xu YJ; Qu XK; Fang WY; Liu X; Yang YQ
    Mol Med Rep; 2013 Mar; 7(3):767-74. PubMed ID: 23292621
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.
    Okamoto R; Goto I; Nishimura Y; Kobayashi I; Hashizume R; Yoshida Y; Ito R; Kobayashi Y; Nishikawa M; Ali Y; Saito S; Tanaka T; Sawa Y; Ito M; Dohi K
    PLoS One; 2020; 15(10):e0240129. PubMed ID: 33048975
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gap junction assembly: multiple connexin fluorophores identify complex trafficking pathways.
    Martin PE; Errington RJ; Evans WH
    Cell Commun Adhes; 2001; 8(4-6):243-8. PubMed ID: 12064596
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.
    Sun Y; Yang YQ; Gong XQ; Wang XH; Li RG; Tan HW; Liu X; Fang WY; Bai D
    Hum Mutat; 2013 Apr; 34(4):603-9. PubMed ID: 23348765
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms.
    Huang T; Shao Q; MacDonald A; Xin L; Lorentz R; Bai D; Laird DW
    J Cell Sci; 2013 Jul; 126(Pt 13):2857-66. PubMed ID: 23606748
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Gap junctions composed of connexins 41.8 and 39.4 are essential for colour pattern formation in zebrafish.
    Irion U; Frohnhöfer HG; Krauss J; Çolak Champollion T; Maischein HM; Geiger-Rudolph S; Weiler C; Nüsslein-Volhard C
    Elife; 2014 Dec; 3():e05125. PubMed ID: 25535837
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.
    Bai D
    FEBS Lett; 2014 Apr; 588(8):1238-43. PubMed ID: 24656738
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Changing patterns of gap junctional intercellular communication and connexin distribution in mouse epidermis and hair follicles during embryonic development.
    Choudhry R; Pitts JD; Hodgins MB
    Dev Dyn; 1997 Dec; 210(4):417-30. PubMed ID: 9415427
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.
    Martin PE; Mambetisaeva ET; Archer DA; George CH; Evans WH
    J Neurochem; 2000 Feb; 74(2):711-20. PubMed ID: 10646523
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Connexin 39.9 protein is necessary for coordinated activation of slow-twitch muscle and normal behavior in zebrafish.
    Hirata H; Wen H; Kawakami Y; Naganawa Y; Ogino K; Yamada K; Saint-Amant L; Low SE; Cui WW; Zhou W; Sprague SM; Asakawa K; Muto A; Kawakami K; Kuwada JY
    J Biol Chem; 2012 Jan; 287(2):1080-9. PubMed ID: 22075003
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A loss-of-function mutation p.T256M in NDRG4 is implicated in the pathogenesis of pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF).
    Peng J; Wang Q; Meng Z; Wang J; Zhou Y; Zhou S; Song W; Chen S; Chen AF; Sun K
    FEBS Open Bio; 2021 Feb; 11(2):375-385. PubMed ID: 33211401
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A spontaneously arising mutation in connexin32 with repeated passage of FRTL-5 cells coincides with increased growth rate and reduced thyroxine release.
    Green LM; Murray DK; Tran DT; Nelson GA; Shah MM; Luben RA
    J Mol Endocrinol; 2001 Oct; 27(2):145-63. PubMed ID: 11564600
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.