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 *

344 related articles for article (PubMed ID: 15006706)

  • 61. Connexins in disease.
    Bennett MV
    Nature; 1994 Mar; 368(6466):18-9. PubMed ID: 8107878
    [No Abstract]   [Full Text] [Related]  

  • 62. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.
    Bruzzone R; White TW; Scherer SS; Fischbeck KH; Paul DL
    Neuron; 1994 Nov; 13(5):1253-60. PubMed ID: 7946361
    [TBL] [Abstract][Full Text] [Related]  

  • 63. The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy.
    Bhagavati S; Maccabee PJ; Xu W
    J Clin Neurosci; 2009 Jun; 16(6):830-1. PubMed ID: 19286384
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online.
    Flagiello L; Cirigliano V; Strazzullo M; Cappa V; Ciccodicola A; D'Esposito M; Torrente I; Werner R; Di Iorio G; Rinaldi M; Dallapiccola A; Forabosco A; Ventruto V; D'Urso M
    Hum Mutat; 1998; 12(5):361. PubMed ID: 10671058
    [TBL] [Abstract][Full Text] [Related]  

  • 65. A mechanism of gap junction docking revealed by functional rescue of a human-disease-linked connexin mutant.
    Gong XQ; Nakagawa S; Tsukihara T; Bai D
    J Cell Sci; 2013 Jul; 126(Pt 14):3113-20. PubMed ID: 23687377
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Charcot-Marie-Tooth disease type 2.
    Vance JM
    Ann N Y Acad Sci; 1999 Sep; 883():42-6. PubMed ID: 10586228
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Gap junctions: structure and function (Review).
    Evans WH; Martin PE
    Mol Membr Biol; 2002; 19(2):121-36. PubMed ID: 12126230
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract.
    Xu X; Ebihara L
    Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1844-50. PubMed ID: 10393059
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
    Castro C; Gómez-Hernandez JM; Silander K; Barrio LC
    J Neurosci; 1999 May; 19(10):3752-60. PubMed ID: 10234007
    [TBL] [Abstract][Full Text] [Related]  

  • 70. X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
    Kim Y; Choi KG; Park KD; Lee KS; Chung KW; Choi BO
    Clin Genet; 2012 Feb; 81(2):142-9. PubMed ID: 21291455
    [TBL] [Abstract][Full Text] [Related]  

  • 71. X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system.
    Spray DC; Dermietzel R
    Trends Neurosci; 1995 Jun; 18(6):256-62. PubMed ID: 7570999
    [TBL] [Abstract][Full Text] [Related]  

  • 72. [Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].
    Kochański A; Ryniewicz B; Jedrzejowska H; Kabzińska D
    Neurol Neurochir Pol; 2002; 36(6):1087-94. PubMed ID: 12715686
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
    Qi C; Lavriha P; Bayraktar E; Vaithia A; Schuster D; Pannella M; Sala V; Picotti P; Bortolozzi M; Korkhov VM
    Sci Adv; 2023 Sep; 9(35):eadh4890. PubMed ID: 37647412
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease.
    Abel A; Bone LJ; Messing A; Scherer SS; Fischbeck KH
    J Neuropathol Exp Neurol; 1999 Jul; 58(7):702-10. PubMed ID: 10411340
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Connexin32-null mice develop demyelinating peripheral neuropathy.
    Scherer SS; Xu YT; Nelles E; Fischbeck K; Willecke K; Bone LJ
    Glia; 1998 Sep; 24(1):8-20. PubMed ID: 9700485
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.
    Abrams CK; Islam M; Mahmoud R; Kwon T; Bargiello TA; Freidin MM
    J Biol Chem; 2013 Feb; 288(5):3609-19. PubMed ID: 23209285
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Characteristics of gap junction channels in Schwann cells from wild-type and connexin-null mice.
    Zhao S; Fort A; Spray DC
    Ann N Y Acad Sci; 1999 Sep; 883():533-7. PubMed ID: 10586293
    [No Abstract]   [Full Text] [Related]  

  • 78. Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.
    Karadima G; Koutsis G; Raftopoulou M; Floroskufi P; Karletidi KM; Panas M
    J Neurol Sci; 2014 Jun; 341(1-2):158-61. PubMed ID: 24768312
    [TBL] [Abstract][Full Text] [Related]  

  • 79. An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.
    Seburn KL; Nangle LA; Cox GA; Schimmel P; Burgess RW
    Neuron; 2006 Sep; 51(6):715-26. PubMed ID: 16982418
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.
    Li Q; Chen M; Liu K; Lin X; Chui D
    Int J Neurosci; 2010 Nov; 120(11):731-4. PubMed ID: 20942588
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.