Connexin 30.3 (GJB4) is not required for normal skin function in humans [9]

British Journal of Dermatology

Volumn 147, Issue 6, 2002, Pages 1275-1277

  Van Geel, M ^a   Van Steensel, M A M ^a   Steijlen, P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 30.3; ETRETIN; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ALLELE; CASE REPORT; CELL DIFFERENTIATION; CELL GROWTH; DNA DETERMINATION; ELECTRON MICROSCOPY; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; KERATODERMA; LETTER; LORICIN GENE; MALE; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SKIN FUNCTION; ERYTHEMA; GENETICS; KERATOSIS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

BASE SEQUENCE; CHILD, PRESCHOOL; CONNEXINS; ERYTHEMA; HUMANS; KERATOSIS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 0036885914     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2002.05000_9.x     Document Type: Letter

References (8)

1. Richard G, Smith LE, Bailey RA et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 1998; 20: 366-9.
2. Macari F, Landau M, Cousin P et al. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet 2000; 67: 1296-301.
3. Kelsell DP, Di WL, Houseman MJ. Connexin mutations in skin disease and hearing loss. Am J Hum Genet 2001; 68: 559-68.
4. Macfarlane AW, Chapman SJ, Verbov JL. Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings. Br J Dermatol 1991; 124: 487-91.
5. Plum A, Winterhager E, Pesch J et al. Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation. Dev Biol 2001; 231: 334-47.
6. Kelsell DP, Wilgoss AL, Richard G et al. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000; 8: 469-72.
7. López-Bigas N, Rabionet R, Arbones ML, Estivill X. R32W variant in connexin 31: mutation or polymorphism for deafness and skin disease? Eur J Hum Genet 2001; 9: 70.
8. Ishida-Yamamoto A, McGrath JA, Lam H et al. The molecular pathology of progressive symmetric erythrokeratoderma: a frame-shift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am J Hum Genet 1997; 61: 581-9.