Below are the most recent publications written about "Keratoderma, Palmoplantar" by people in Profiles.
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Nanda A, Chang YH, Cheng HC, Lai IT, Al-Lafi A, McGrath JA, Hsu CK. Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in?KRT16. Br J Dermatol. 2024 03 15; 190(4):588-590.
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Doolan BJ, Gomaa NS, Fawzy MM, Dogheim NN, Liu L, Mellerio JE, Onoufriadis A, McGrath JA. Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis. Exp Dermatol. 2020 06; 29(6):520-530.
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Chiu FP, Salas-Alanis JC, Amaya-Guerra M, Cepeda-Valdes R, McGrath JA, Hsu CK. Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome. Clin Exp Dermatol. 2020 Aug; 45(6):796-798.
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Lee JYW, Farag A, Tawdy A, Liu L, Michael M, Rashidghamat E, Aristodemou S, Hsu CK, Simpson MA, Parsons M, McGrath JA. Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. J Dermatol Sci. 2018 Feb; 89(2):198-201.
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Ohguchi Y, Nomura T, Suzuki S, Takeda M, Miyauchi T, Mizuno O, Shinkuma S, Fujita Y, Nemoto O, Ono K, McLean WHI, Shimizu H. Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts. J Invest Dermatol. 2018 04; 138(4):836-843.
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Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fern?ndez-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA. Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a?Spectrum of Keratinization Disorders Associated with Thrombocytopenia. J Invest Dermatol. 2017 11; 137(11):2344-2353.
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Dinani N, Ali M, Liu L, McGrath J, Mellerio J. Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma. Clin Exp Dermatol. 2017 Apr; 42(3):316-319.
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Boente Mdel C, Nanda A, Baselaga PA, Kelsell DP, McGrath JA, South AP. Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP. Br J Dermatol. 2016 Sep; 175(3):644-6.
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Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis. Br J Dermatol. 2015 Nov; 173(5):1291-4.
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Nomura T, Yoneta A, Pohler E, Suzuki S, Osawa R, Mizuno O, Ohguchi Y, Nomura Y, Yamashita T, McLean WH, Shimizu H. Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. Acta Derm Venereol. 2015 Jan; 95(1):110-1.