Richard G - Search Results

1

Gap junctions: basic structure and function.

Meşe G, Richard G, White TW. Meşe G, et al. Among authors: richard g. J Invest Dermatol. 2007 Nov;127(11):2516-24. doi: 10.1038/sj.jid.5700770. J Invest Dermatol. 2007. PMID: 17934503 Free article. Review.

2

Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.

Gerido DA, DeRosa AM, Richard G, White TW. Gerido DA, et al. Among authors: richard g. Am J Physiol Cell Physiol. 2007 Jul;293(1):C337-45. doi: 10.1152/ajpcell.00626.2006. Epub 2007 Apr 11. Am J Physiol Cell Physiol. 2007. PMID: 17428836 Free article.

3

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.

Mese G, Sellitto C, Li L, Wang HZ, Valiunas V, Richard G, Brink PR, White TW. Mese G, et al. Among authors: richard g. Mol Biol Cell. 2011 Dec;22(24):4776-86. doi: 10.1091/mbc.E11-09-0778. Epub 2011 Oct 26. Mol Biol Cell. 2011. PMID: 22031297 Free PMC article.

4

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. Richard G, et al. Hum Genet. 1998 Oct;103(4):393-9. doi: 10.1007/s004390050839. Hum Genet. 1998. PMID: 9856479

5

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.

Rouan F, White TW, Brown N, Taylor AM, Lucke TW, Paul DL, Munro CS, Uitto J, Hodgins MB, Richard G. Rouan F, et al. Among authors: richard g. J Cell Sci. 2001 Jun;114(Pt 11):2105-13. doi: 10.1242/jcs.114.11.2105. J Cell Sci. 2001. PMID: 11493646

6

Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.

Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP. Jan AY, et al. Among authors: richard g. J Invest Dermatol. 2004 May;122(5):1108-13. doi: 10.1111/j.0022-202X.2004.22518.x. J Invest Dermatol. 2004. PMID: 15140211 Free article.

7

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

Richard G, Brown N, Ishida-Yamamoto A, Krol A. Richard G, et al. J Invest Dermatol. 2004 Nov;123(5):856-63. doi: 10.1111/j.0022-202X.2004.23470.x. J Invest Dermatol. 2004. PMID: 15482471 Free article.

8

Connexins: a connection with the skin.

Richard G. Richard G. Exp Dermatol. 2000 Apr;9(2):77-96. doi: 10.1034/j.1600-0625.2000.009002077.x. Exp Dermatol. 2000. PMID: 10772382 Review.

9

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Richard G, et al. J Invest Dermatol. 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x. J Invest Dermatol. 2003. PMID: 12648223 Free article.

10

A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.

Brown CW, Levy ML, Flaitz CM, Reid BS, Manolidis S, Hebert AA, Bender MM, Heilstedt HA, Plunkett KS, Fang P, Roa BB, Chung P, Tang HY, Richard G, Alford RL. Brown CW, et al. Among authors: richard g. J Invest Dermatol. 2003 Nov;121(5):1221-3. doi: 10.1046/j.1523-1747.2003.12550_4.x. J Invest Dermatol. 2003. PMID: 14708631 Free article. No abstract available.

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