Clinical and pathological observations in men lacking the gap junction protein connexin 32

Muscle and Nerve

Volumn 23, Issue SUPPL. 9, 2000, Pages

  Zifko, Udo A ^a  

^a Sonderkrankenanstalt Neurol K   (Austria)

Author keywords

CMTX; Connexin 32 gene deletion; Electrophysiology; Nerve biopsy

Indexed keywords

CONNEXIN 32; DNA; MESSENGER RNA; MUTANT PROTEIN;

ADULT; AGE; AGED; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; DELETION MUTANT; DEMYELINATION; FEMALE; FRAMESHIFT MUTATION; GAP JUNCTION; HEMIZYGOSITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; NERVE BIOPSY; NERVE FIBER DEGENERATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHWANN CELL; X CHROMOSOME LINKED DISORDER;

EID: 0033781906     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-4598(2000)999:9<::aid-mus8>3.0.co;2-c     Document Type: Conference Paper

References (49)

1. Studies in transgenic mice indicate a loss of connexin 32 function in X-linked Charcot-Marie-Tooth disease
2. Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene
3. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32
4. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connnexin 32 gene
5. Functional gap junctions in the Schwann cell myelin sheath
6. CNS abnormalities in a family with a connexin 32 mutation and peripheral neuropathy
7. Gap junctions: New tools, new answers, new questions
8. Connexin mutations in X-linked Charcot-Marie-Tooth disease
9. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: Clinical and electrophysiological study
10. Connexin, gap junctions, and cell-cell signalling in the nervous system
11. Connections with connexins: The molecular basis of direct intercellular signaling
12. Null mutations of connexin 32 in patients with X-linked Charcot-Marie-Tooth disease
13. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
14. X-linked Charcot-Marie-Tooth disease (CMTX1): A study of 15 families with 12 highly informative polymorphisms
15. Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells
16. Gap junction wiring: A 'new' principle in cell-to-cell communication in the nervous system?
17. Gap junctions in health and disease
18. Altered trafficking of mutant connexin 32
19. Pathologic alterations of the peripheral nervous system of humans
20. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease
21. X-linked dominant hereditary motor and sensory neuropathy
22. Orally administered NHE1 inhibitor cariporide reduced acute responses to coronary occlusion and reperfusion
23. Mutations of noncoding region of the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy
24. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy
25. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
26. Gene action in the X-chromosome of the mouse
27. Physiological consequences of demyelination
28. A simple salting out procedure for extracting DNA from human nucleated cells
29. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies
30. Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin 32-deficient mice
31. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: Ten novel mutations
32. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families
33. Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease
34. Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects
35. Effect of nerve impulses on the membrane potential of glial cells in the central nervous system of amphibia
36. Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations
37. A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes
38. Connexin 32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: Loss of function and altered gating properties
39. Abnormalities in the axonal cytoskeleton induced by a connexin 32 mutation in nerve xenografts
40. Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin 32 (CMTX1)
41. Membrane morphology of the vertebrate nervous system
42. The biology and pathobiology of Schwann cells
43. X-linked Charcot-Marie-Tooth disease
44. Connexin 32 is a myelin-related protein in the PNS and CNS
45. Connexin 32-null mice develop a demyelinating peripheral neuropathy
46. Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease
47. Tight junction contact events and temporary gap junctions in the sciatic nerve fibres of the chicken during Wallerian degeneration and subsequent regeneration
48. Mutations of connexin 32 in Charcot-Marie-Tooth disease Type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression
49. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNBI) in Mediterraneans