G Richard


Affiliation: Thomas Jefferson University
Country: USA


  1. Richard G, Rouan F, Willoughby C, Brown N, Chung P, Ryynanen M, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002;70:1341-8 pubmed
  2. Richard G, Smith L, Bailey R, Itin P, Hohl D, Epstein E, et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet. 1998;20:366-9 pubmed
    ..Our results implicate Cx31 in the pathogenesis of EKV, and provide evidence that intercellular communication mediated by Cx31 is crucial for epidermal differentiation and response to external factors. ..
  3. Richard G, Brown N, Smith L, Terrinoni A, Melino G, MacKie R, et al. The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. Hum Genet. 2000;106:321-9 pubmed
  4. Richard G, Brown N, Rouan F, Van der Schroeff J, Bijlsma E, Eichenfield L, et al. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003;120:601-9 pubmed
    ..In conclusion, our results demonstrate genetic heterogeneity in erythrokeratodermia variabilis, and emphasize that intercellular communication mediated by both Cx31 and Cx30.3 is crucial for epidermal differentiation. ..
  5. Richard G. Connexin gene pathology. Clin Exp Dermatol. 2003;28:397-409 pubmed