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Page 1
Ichthyosis.
Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, González-Sarmiento R. Gutiérrez-Cerrajero C, et al. Among authors: sprecher e. Nat Rev Dis Primers. 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3. Nat Rev Dis Primers. 2023. PMID: 36658199 Review.
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H. Sprecher E, et al. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20. Am J Hum Genet. 2005. PMID: 15968592 Free PMC article.
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Oji V, et al. Among authors: sprecher e. J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. J Am Acad Dermatol. 2010. PMID: 20643494 Review.
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.
Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WHI, Ast G, Gallo RL, Uitto J, Sprecher E. Bochner R, et al. Among authors: sprecher e. J Invest Dermatol. 2017 Feb;137(2):385-393. doi: 10.1016/j.jid.2016.07.043. Epub 2016 Oct 18. J Invest Dermatol. 2017. PMID: 27769845 Free article.
Epidermolytic Ichthyosis Sine Epidermolysis.
Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E. Eskin-Schwartz M, et al. Among authors: sprecher e. Am J Dermatopathol. 2017 Jun;39(6):440-444. doi: 10.1097/DAD.0000000000000674. Am J Dermatopathol. 2017. PMID: 28121638 Free PMC article.
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Malki L, Sarig O, Cesarato N, Mohamad J, Canter T, Assaf S, Pavlovsky M, Vodo D, Anis Y, Bihari O, Malovitski K, Gat A, Thiele H, White BEP, Samuelov L, Nanda A, Paller AS, Betz RC, Sprecher E. Malki L, et al. Among authors: sprecher e. Genet Med. 2020 Jul;22(7):1227-1234. doi: 10.1038/s41436-020-0794-5. Epub 2020 Apr 27. Genet Med. 2020. PMID: 32336749 Free PMC article.
579 results