BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

344 related articles for article (PubMed ID: 15006706)

  • 1. 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]  

  • 2. 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]  

  • 3. Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
    Matsuyama W; Nakagawa M; Moritoyo T; Takashima H; Umehara F; Hirata K; Suehara M; Osame M
    J Hum Genet; 2001; 46(6):307-13. PubMed ID: 11393532
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Connexin32 and X-linked Charcot-Marie-Tooth disease.
    Bone LJ; DeschĂȘnes SM; Balice-Gordon RJ; Fischbeck KH; Scherer SS
    Neurobiol Dis; 1997; 4(3-4):221-30. PubMed ID: 9361298
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
    Kleopa KA; Zamba-Papanicolaou E; Alevra X; Nicolaou P; Georgiou DM; Hadjisavvas A; Kyriakides T; Christodoulou K
    Neurology; 2006 Feb; 66(3):396-402. PubMed ID: 16476939
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Connexins, gap junctions and peripheral neuropathy.
    Kleopa KA; Sargiannidou I
    Neurosci Lett; 2015 Jun; 596():27-32. PubMed ID: 25449862
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
    Kleopa KA; Yum SW; Scherer SS
    J Neurosci Res; 2002 Jun; 68(5):522-34. PubMed ID: 12111842
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The effects of a dominant connexin32 mutant in myelinating Schwann cells.
    Jeng LJ; Balice-Gordon RJ; Messing A; Fischbeck KH; Scherer SS
    Mol Cell Neurosci; 2006 Jul; 32(3):283-98. PubMed ID: 16790356
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
    Rouger H; LeGuern E; Birouk N; Gouider R; Tardieu S; Plassart E; Gugenheim M; Vallat JM; Louboutin JP; Bouche P; Agid Y; Brice A
    Hum Mutat; 1997; 10(6):443-52. PubMed ID: 9401007
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.
    Fusco C; Frattini D; Pisani F; Spaggiari F; Ferlini A; Della Giustina E
    J Child Neurol; 2010 Jun; 25(6):759-63. PubMed ID: 20382840
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease.
    Bicego M; Morassutto S; Hernandez VH; Morgutti M; Mammano F; D'Andrea P; Bruzzone R
    Neurobiol Dis; 2006 Mar; 21(3):607-17. PubMed ID: 16442804
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.
    Da Y; Wang W; Liu Z; Chen H; Di L; Previch L; Chen Z
    Neurol Res; 2016 Oct; 38(10):897-902. PubMed ID: 27367520
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
    Hahn AF; Bolton CF; White CM; Brown WF; Tuuha SE; Tan CC; Ainsworth PJ
    Ann N Y Acad Sci; 1999 Sep; 883():366-82. PubMed ID: 10586261
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
    Vazza G; Merlini L; Bertolin C; Zortea M; Mostacciuolo ML
    Neuromuscul Disord; 2006 Dec; 16(12):878-81. PubMed ID: 17052905
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.