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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E. Samuelov L, et al. Among authors: mcgrath ja. Nat Genet. 2013 Oct;45(10):1244-1248. doi: 10.1038/ng.2739. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974871 Free PMC article.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. Pohler E, et al. Among authors: mcgrath ja. Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064416 Free PMC article.
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Lugassy J, et al. Among authors: mcgrath ja. Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25. Am J Hum Genet. 2006. PMID: 16960809 Free PMC article.
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Petrof G, et al. Among authors: mcgrath ja. Am J Hum Genet. 2014 Sep 4;95(3):308-14. doi: 10.1016/j.ajhg.2014.08.001. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152456 Free PMC article.
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E. Lugassy J, et al. Among authors: mcgrath ja. J Invest Dermatol. 2008 Jun;128(6):1517-24. doi: 10.1038/sj.jid.5701187. Epub 2007 Nov 29. J Invest Dermatol. 2008. PMID: 18049449 Free article.
Next-Generation Diagnostics for Genodermatoses.
Cho RJ, Simpson MA, McGrath JA. Cho RJ, et al. Among authors: mcgrath ja. J Invest Dermatol. 2012 Nov;132 Suppl 3:E27-8. doi: 10.1038/skinbio.2012.8. J Invest Dermatol. 2012. PMID: 26875439 No abstract available.
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Ashton GH, et al. Among authors: mcgrath ja. J Invest Dermatol. 2004 Jan;122(1):78-83. doi: 10.1046/j.0022-202X.2003.22136.x. J Invest Dermatol. 2004. PMID: 14962093 Free article.
680 results