BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

254 related articles for article (PubMed ID: 10646523)

  • 1. 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]  

  • 2. Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.
    Omori Y; Mesnil M; Yamasaki H
    Mol Biol Cell; 1996 Jun; 7(6):907-16. PubMed ID: 8816997
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.
    Abrams CK; Bennett MV; Verselis VK; Bargiello TA
    Proc Natl Acad Sci U S A; 2002 Mar; 99(6):3980-4. PubMed ID: 11891346
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease.
    Ressot C; Bruzzone R
    Brain Res Brain Res Rev; 2000 Apr; 32(1):192-202. PubMed ID: 10751670
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene.
    Wang HL; Wu T; Chang WT; Li AH; Chen MS; Wu CY; Fang W
    Brain Res Mol Brain Res; 2000 May; 78(1-2):146-53. PubMed ID: 10891594
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.
    Carrer A; Leparulo A; Crispino G; Ciubotaru CD; Marin O; Zonta F; Bortolozzi M
    Hum Mol Genet; 2018 Jan; 27(1):80-94. PubMed ID: 29077882
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.
    Abrams CK; Freidin MM; Verselis VK; Bennett MV; Bargiello TA
    Brain Res; 2001 May; 900(1):9-25. PubMed ID: 11325342
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease.
    Abrams CK; Oh S; Ri Y; Bargiello TA
    Brain Res Brain Res Rev; 2000 Apr; 32(1):203-14. PubMed ID: 10751671
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.
    Martin PE; Coleman SL; Casalotti SO; Forge A; Evans WH
    Hum Mol Genet; 1999 Dec; 8(13):2369-76. PubMed ID: 10556284
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease.
    Oh S; Ri Y; Bennett MV; Trexler EB; Verselis VK; Bargiello TA
    Neuron; 1997 Oct; 19(4):927-38. PubMed ID: 9354338
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.
    Ressot C; Gomès D; Dautigny A; Pham-Dinh D; Bruzzone R
    J Neurosci; 1998 Jun; 18(11):4063-75. PubMed ID: 9592087
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. X-linked Charcot-Marie-Tooth disease and connexin32.
    Fischbeck KH; Abel A; Lin GS; Scherer SS
    Ann N Y Acad Sci; 1999 Sep; 883():36-41. PubMed ID: 10586227
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.
    Abrams CK; Freidin M; Bukauskas F; Dobrenis K; Bargiello TA; Verselis VK; Bennett MV; Chen L; Sahenk Z
    J Neurosci; 2003 Nov; 23(33):10548-58. PubMed ID: 14627639
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Connexin mutations in X-linked Charcot-Marie-Tooth disease.
    Bergoffen J; Scherer SS; Wang S; Scott MO; Bone LJ; Paul DL; Chen K; Lensch MW; Chance PF; Fischbeck KH
    Science; 1993 Dec; 262(5142):2039-42. PubMed ID: 8266101
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
    Bone LJ; Dahl N; Lensch MW; Chance PF; Kelly T; Le Guern E; Magi S; Parry G; Shapiro H; Wang S
    Neurology; 1995 Oct; 45(10):1863-6. PubMed ID: 7477983
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
    Wang HL; Chang WT; Yeh TH; Wu T; Chen MS; Wu CY
    Neurobiol Dis; 2004 Mar; 15(2):361-70. PubMed ID: 15006706
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.