Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

American Journal of Human Genetics

Volumn 70, Issue 5, 2002, Pages 1341-1348

  Richard, Gabriele ^a   Rouan, Fatima ^a   Willoughby, Colin E ^a   Brown, Nkecha ^a   Chung, Pil ^a   Ryynänen, Markku ^a   Jabs, Ethylin Wang ^a   Bale, Sherri J ^a   DiGiovanna, John J ^a   Uitto, Jouni ^a   Russell, Laura ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ADNEXA DISEASE; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER RISK; CELL DIFFERENTIATION; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA EPITHELIUM; CORRELATION ANALYSIS; ECTODERMAL DYSPLASIA; EPIDERMIS; ERYTHROKERATODERMA; GAP JUNCTION; GENE MUTATION; GENE SEGREGATION; GENOTYPE; GJB2 GENE; HEARING IMPAIRMENT; HUMAN; ICHTHYOSIS; IMMUNE RESPONSE; KERATITIS; KERATODERMA; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RECURRENT DISEASE; SKIN CARCINOGENESIS; VERTICAL TRANSMISSION;

EID: 18344395853     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339986     Document Type: Article

References (30)

1. Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules
2. Keratitis, ichthyosis, and deafness (KID syndrome): Review of the literature and proposal of a new terminology
3. Cell-free synthesis and assembly of connexins into functional gap junction membrane channels
4. Keratitis, ichthyosis, and deafness (KID) syndrome
5. Differential regulation of gap junctions by proinflammatory mediators in vitro
6. Aberrant expression of gap junction proteins (connexins) is associated with tumor progression during multistage mouse skin carcinogenesis in vivo
7. Connexin mutations in skin disease and hearing loss
8. Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs
9. Mutations in GJB6 cause hidrotic ectodermal dysplasia
10. A rare oculo-auriculo-cutaneous syndrome (Burns' syndrome)
11. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
12. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Voh-winkel's syndrome) in three unrelated families
13. Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness
14. Stem cells of the corneal epithelium lack connexins and metabolite transfer capacity
15. Negative growth control of HeLa cells by connexin genes: Connexin species specificity
16. Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome: Case reports of a mother and daughter
17. Structure of the amino terminus of a gap junction protein
18. Regeneration of rabbit cornea following excimer laser photorefractive keratectomy: A study on gap junctions, epithelial junctions and epidermal growth factor receptor expression in correlation with cell proliferation
19. Connexin disorders of the skin
20. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
21. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
22. Trans-dominant inhibition of connexin-43 by mutant connexin-26: Implications for dominant connexin disorders affecting epidermal differentiation
23. Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32
24. Gap junctions in cells of the immune system: Structure, regulation and possible functional roles
25. Perturbation in connexin 43 and connexin 26 gap-junction expression in mouse skin hyperplasia and neoplasia
26. Auditory manifestations of keratitis ichthyosis-deafness (KID) syndrome
27. The KID-syndrome in Finland: A report of four cases
28. Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins
29. Opposite voltage gating polarities of two closely related connexins
30. Multiple connexin proteins in single intercellular channels: Connexin compatibility and functional consequences