Human diseases: Clues to cracking the connexin code?

Trends in Cell Biology

Volumn 11, Issue 1, 2001, Pages 2-6

  Kelsell, David P ^a   Dunlop, John ^b   Hodgins, Malcolm B ^c  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF BARCELONA   (Spain)

^c UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30; CONNEXIN 30.3; CONNEXIN 31; CONNEXIN 32; CONNEXIN 43; CONNEXIN 46; CONNEXIN 50; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL COMMUNICATION; DISEASE MODEL; GAP JUNCTION; GENE MUTATION; GENETIC DISORDER; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; SKIN DISEASE;

ANIMALS; CONNEXINS; DEAFNESS; DISEASE; GAP JUNCTIONS; HUMANS; MICE; MICE, KNOCKOUT; MUTATION; SKIN DISEASES;

ANIMALIA; VERTEBRATA;

EID: 0035186795     PISSN: 09628924     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0962-8924(00)01866-3     Document Type: Review

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9. Mutations in connexin 31 underlie recessive as well as dominant non-syndromic hearing loss
10. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
11. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
12. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
13. Mutations in the human connexin gene GJB3 cause erythrokeratoderma variabilis
14. An amino acid deletion in the human connexin 31 gene (GJB3) is associated with sensorineural deafness and hereditary sensory neuropathy
15. Mutation in the gene for connexin 30.3 in a family with Erythrokeratoderma variabilis
16. Mutations in the human connexin-30 gene (GJB6) cause hidrotic ectodermal dysplasia (Clouston syndrome)
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27. Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice
28. Doubly mutant mice, deficient in connexin32 and -43, show normal prenatal development of organs where the two gap junction proteins are expressed in the same cells
29. Lens biology: Development and human cataractogenesis
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37. Drosophila Shaking-B protein forms gap junctions in paired Xenopus oocytes