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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Kelsell DP, et al. Among authors: mein ca. Am J Hum Genet. 2005 May;76(5):794-803. doi: 10.1086/429844. Epub 2005 Mar 8. Am J Hum Genet. 2005. PMID: 15756637 Free PMC 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: mein ca. 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.
Array-based DNA methylation profiling in follicular lymphoma.
O'Riain C, O'Shea DM, Yang Y, Le Dieu R, Gribben JG, Summers K, Yeboah-Afari J, Bhaw-Rosun L, Fleischmann C, Mein CA, Crook T, Smith P, Kelly G, Rosenwald A, Ott G, Campo E, Rimsza LM, Smeland EB, Chan WC, Johnson N, Gascoyne RD, Reimer S, Braziel RM, Wright GW, Staudt LM, Lister TA, Fitzgibbon J. O'Riain C, et al. Among authors: mein ca. Leukemia. 2009 Oct;23(10):1858-66. doi: 10.1038/leu.2009.114. Epub 2009 Jul 9. Leukemia. 2009. PMID: 19587707 Free PMC article.
Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma.
Okosun J, Bödör C, Wang J, Araf S, Yang CY, Pan C, Boller S, Cittaro D, Bozek M, Iqbal S, Matthews J, Wrench D, Marzec J, Tawana K, Popov N, O'Riain C, O'Shea D, Carlotti E, Davies A, Lawrie CH, Matolcsy A, Calaminici M, Norton A, Byers RJ, Mein C, Stupka E, Lister TA, Lenz G, Montoto S, Gribben JG, Fan Y, Grosschedl R, Chelala C, Fitzgibbon J. Okosun J, et al. Nat Genet. 2014 Feb;46(2):176-181. doi: 10.1038/ng.2856. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362818 Free PMC article.
106 results