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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Hamada T, et al. Among authors: wessagowit v. Hum Mol Genet. 2002 Apr 1;11(7):833-40. doi: 10.1093/hmg/11.7.833. Hum Mol Genet. 2002. PMID: 11929856
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA. Hamada T, et al. Among authors: wessagowit v. J Invest Dermatol. 2003 Mar;120(3):345-50. doi: 10.1046/j.1523-1747.2003.12073.x. J Invest Dermatol. 2003. PMID: 12603844 Free article.
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Siegel DH, et al. Among authors: wessagowit v. Am J Hum Genet. 2003 Jul;73(1):174-87. doi: 10.1086/376609. Epub 2003 Jun 3. Am J Hum Genet. 2003. PMID: 12789646 Free PMC article.
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus.
Oyama N, Chan I, Neill SM, Hamada T, South AP, Wessagowit V, Wojnarowska F, D'Cruz D, Hughes GJ, Black MM, McGrath JA. Oyama N, et al. Among authors: wessagowit v. Lancet. 2003 Jul 12;362(9378):118-23. doi: 10.1016/S0140-6736(03)13863-9. Lancet. 2003. PMID: 12867112
Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio JE, McGrath JA. Fassihi H, et al. Among authors: wessagowit v. J Invest Dermatol. 2006 Sep;126(9):2039-43. doi: 10.1038/sj.jid.5700348. Epub 2006 May 18. J Invest Dermatol. 2006. PMID: 16710310 Free article.
Dermatological applications of DNA array technology.
Wessagowit V, South AP. Wessagowit V, et al. Clin Exp Dermatol. 2002 Sep;27(6):485-92. doi: 10.1046/j.1365-2230.2002.01117.x. Clin Exp Dermatol. 2002. PMID: 12372092 Review.
43 results