BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 16891658)

  • 21. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.
    Kjaer KW; Hansen L; Eiberg H; Leicht P; Opitz JM; Tommerup N
    Am J Med Genet A; 2004 Jun; 127A(2):152-7. PubMed ID: 15108203
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
    Lai A; Le DN; Paznekas WA; Gifford WD; Jabs EW; Charles AC
    J Cell Sci; 2006 Feb; 119(Pt 3):532-41. PubMed ID: 16418219
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
    Boyden LM; Craiglow BG; Zhou J; Hu R; Loring EC; Morel KD; Lauren CT; Lifton RP; Bilguvar K; Paller AS; Choate KA
    J Invest Dermatol; 2015 Jun; 135(6):1540-1547. PubMed ID: 25398053
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects.
    Churko JM; Shao Q; Gong XQ; Swoboda KJ; Bai D; Sampson J; Laird DW
    Hum Mutat; 2011 Apr; 32(4):456-66. PubMed ID: 21305658
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia.
    Churko JM; Chan J; Shao Q; Laird DW
    J Invest Dermatol; 2011 Nov; 131(11):2197-204. PubMed ID: 21716323
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The severity of mammary gland developmental defects is linked to the overall functional status of Cx43 as revealed by genetically modified mice.
    Stewart MK; Gong XQ; Barr KJ; Bai D; Fishman GI; Laird DW
    Biochem J; 2013 Jan; 449(2):401-13. PubMed ID: 23075222
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Myogenic bladder defects in mouse models of human oculodentodigital dysplasia.
    Huang T; Shao Q; Barr K; Simek J; Fishman GI; Laird DW
    Biochem J; 2014 Feb; 457(3):441-9. PubMed ID: 24228978
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.
    de la Parra DR; Zenteno JC
    Ophthalmic Genet; 2007 Dec; 28(4):198-202. PubMed ID: 18161618
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.
    Hu Y; Chen IP; de Almeida S; Tiziani V; Do Amaral CM; Gowrishankar K; Passos-Bueno MR; Reichenberger EJ
    PLoS One; 2013; 8(8):e73576. PubMed ID: 23951358
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Connexin43 Mutant Patient-Derived Induced Pluripotent Stem Cells Exhibit Altered Differentiation Potential.
    Esseltine JL; Shao Q; Brooks C; Sampson J; Betts DH; Séguin CA; Laird DW
    J Bone Miner Res; 2017 Jun; 32(6):1368-1385. PubMed ID: 28177159
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss.
    Abitbol JM; Kelly JJ; Barr KJ; Allman BL; Laird DW
    J Cell Sci; 2018 May; 131(9):. PubMed ID: 29618634
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.
    Flenniken AM; Osborne LR; Anderson N; Ciliberti N; Fleming C; Gittens JE; Gong XQ; Kelsey LB; Lounsbury C; Moreno L; Nieman BJ; Peterson K; Qu D; Roscoe W; Shao Q; Tong D; Veitch GI; Voronina I; Vukobradovic I; Wood GA; Zhu Y; Zirngibl RA; Aubin JE; Bai D; Bruneau BG; Grynpas M; Henderson JE; Henkelman RM; McKerlie C; Sled JG; Stanford WL; Laird DW; Kidder GM; Adamson SL; Rossant J
    Development; 2005 Oct; 132(19):4375-86. PubMed ID: 16155213
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
    Wang H; Cao X; Lin Z; Lee M; Jia X; Ren Y; Dai L; Guan L; Zhang J; Lin X; Zhang J; Chen Q; Feng C; Zhou EY; Yin J; Xu G; Yang Y
    Hum Mol Genet; 2015 Jan; 24(1):243-50. PubMed ID: 25168385
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43.
    Amano K; Ishiguchi M; Aikawa T; Kimata M; Kishi N; Fujimaki T; Murakami A; Kogo M
    J Dent Res; 2012 Jul; 91(7 Suppl):38S-44S. PubMed ID: 22699666
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Effects of reduced connexin43 function on skull development in the Cx43
    Jarvis SE; Lee JE; Jewlal E; Barr K; Kelly GM; Laird DW; Willmore KE
    Bone; 2020 Jul; 136():115365. PubMed ID: 32320893
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A dominant loss-of-function GJA1 (Cx43) mutant impairs parturition in the mouse.
    Tong D; Lu X; Wang HX; Plante I; Lui E; Laird DW; Bai D; Kidder GM
    Biol Reprod; 2009 Jun; 80(6):1099-106. PubMed ID: 19176884
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia.
    Lorentz R; Shao Q; Huang T; Fishman GI; Laird DW
    J Membr Biol; 2012 Jun; 245(5-6):345-55. PubMed ID: 22752022
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia.
    Tsui E; Hill KA; Laliberte AM; Paluzzi D; Kisilevsky I; Shao Q; Heathcote JG; Laird DW; Kidder GM; Hutnik CM
    Invest Ophthalmol Vis Sci; 2011 Jun; 52(6):3539-47. PubMed ID: 21273537
    [TBL] [Abstract][Full Text] [Related]  

  • 39. ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation.
    McLachlan E; Plante I; Shao Q; Tong D; Kidder GM; Bernier SM; Laird DW
    J Bone Miner Res; 2008 Jun; 23(6):928-38. PubMed ID: 18269311
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.
    Tumminelli G; Di Donato I; Guida V; Rufa A; De Luca A; Federico A
    J Alzheimers Dis; 2016; 49(1):27-30. PubMed ID: 26444782
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.