Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Eugene A. de Zwart-Storm"'
Autor:
Eugene A. de Zwart-Storm, Rafael Fabiano Machado Rosa, Patricia Martin, Giorgio Adriano Paskulin, Ana E. K. Bau, Carla Graziadio, Maurice A.M. van Steensel, Michel van Geel, Miriam A.F. Kamps, Regina Foelster-Holst, Paulo Ricardo Gazzola Zen, Jorge Frank
Publikováno v:
Experimental Dermatology. 20:408-412
Mutations in connexin26, a cutaneous gap junction protein, cause a wide variety of skin disorders including keratitis-ichthyosis-deafness syndrome (KID). We previously delineated a phenotype distinct from KID, hypotrichosis-deafness syndrome, caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88671f60b89b9fbb8eac340286d5f8ad
https://doi.org/10.1111/j.1600-0625.2010.01222.x
https://doi.org/10.1111/j.1600-0625.2010.01222.x
Autor:
Grant English, Maurice A.M. van Steensel, Sue Lang, Steven Donnelly, Eugene A. de Zwart-Storm, Patricia Martin
Publikováno v:
Experimental Dermatology, 21(8), 592-598. Wiley
Mutations in Connexin26 (Cx26) give rise to a spectrum of dominantly inherited hyperproliferating skin disorders, the severest being keratitis-ichthyosis-deafness (KID) syndrome, an inflammatory skin disorder, with patients prone to opportunistic inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b121d1ad52fef730535da4b970a457d
https://pubmed.ncbi.nlm.nih.gov/22643125
https://pubmed.ncbi.nlm.nih.gov/22643125
Autor:
Eugene A, de Zwart-Storm, Rafael F M, Rosa, Patricia E, Martin, Regina, Foelster-Holst, Jorge, Frank, Ana E K, Bau, Paulo R G, Zen, Carla, Graziadio, Giorgio A, Paskulin, Miriam A, Kamps, Michel, van Geel, Maurice A M, van Steensel
Publikováno v:
Experimental dermatology. 20(5)
Mutations in connexin26, a cutaneous gap junction protein, cause a wide variety of skin disorders including keratitis-ichthyosis-deafness syndrome (KID). We previously delineated a phenotype distinct from KID, hypotrichosis-deafness syndrome, caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::88265f73fcb7eb7ca0a937b5a9c550ee
https://pubmed.ncbi.nlm.nih.gov/21410767
https://pubmed.ncbi.nlm.nih.gov/21410767
Publikováno v:
Archives of dermatology. 145(12)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6852d0c511d7cf3cb93b1fce48452f3
https://pubmed.ncbi.nlm.nih.gov/20026858
https://pubmed.ncbi.nlm.nih.gov/20026858
Autor:
Peter M. Steijlen, Maurice A.M. van Steensel, Patricia Martin, Pierre A. F. A. van Neer, Michel Van Geel, Eugene A. de Zwart-Storm
Gap junctions, which consist of connexins, are intercellular channels that mediate rapid intercellular communication. In the skin, connexins are involved in the regulation of epidermal growth and differentiation. GJB2 encodes connexin26, which is an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10d06fca5ffce0f579488877e2e56fc7
https://europepmc.org/articles/PMC2543078/
https://europepmc.org/articles/PMC2543078/
