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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: shimizu h. 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.
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.
Arita K, Jacyk WK, Wessagowit V, van Rensburg EJ, Chaplin T, Mein CA, Akiyama M, Shimizu H, Happle R, McGrath JA. Arita K, et al. Among authors: shimizu h. J Invest Dermatol. 2007 Feb;127(2):490-3. doi: 10.1038/sj.jid.5700550. Epub 2006 Sep 14. J Invest Dermatol. 2007. PMID: 16977323 Free article. No abstract available.
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: shimizu h. 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.
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.
Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, Odashiro M, Odashiro DN, Hans-Neto G, Hans NR, Holder MV, Bhogal BS, Hartshorne ST, Akiyama M, Shimizu H, McGrath JA. Arita K, et al. Among authors: shimizu h. Am J Hum Genet. 2008 Jan;82(1):73-80. doi: 10.1016/j.ajhg.2007.09.002. Am J Hum Genet. 2008. PMID: 18179886 Free PMC article.
A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?
Inoue M, Tamai K, Shimizu H, Owaribe K, Nakama T, Hashimoto T, McGrath JA. Inoue M, et al. Among authors: shimizu h. J Invest Dermatol. 2000 May;114(5):1061-4. doi: 10.1046/j.1523-1747.2000.00960-3.x. J Invest Dermatol. 2000. PMID: 10792571 Free article. No abstract available.
6,368 results