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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. Grall A, et al. Among authors: bourrat e. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. Nat Genet. 2012. PMID: 22246504
A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).
Plassais J, Guaguère E, Lagoutte L, Guillory AS, de Citres CD, Degorce-Rubiales F, Delverdier M, Vaysse A, Quignon P, Bleuart C, Hitte C, Fautrel A, Kaerle C, Bellaud P, Bensignor E, Queney G, Bourrat E, Thomas A, André C. Plassais J, et al. Among authors: bourrat e. J Invest Dermatol. 2015 Apr;135(4):1187-1190. doi: 10.1038/jid.2014.526. Epub 2014 Dec 18. J Invest Dermatol. 2015. PMID: 25521457 Free article. No abstract available.
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Among authors: bourrat e. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717
Alitretinoin reduces erythema in inherited ichthyosis.
Onnis G, Chiaverini C, Hickman G, Dreyfus I, Fischer J, Bourrat E, Mazereeuw-Hautier J. Onnis G, et al. Among authors: bourrat e. Orphanet J Rare Dis. 2018 Apr 4;13(1):46. doi: 10.1186/s13023-018-0783-9. Orphanet J Rare Dis. 2018. PMID: 29618363 Free PMC article.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J. Ballin N, et al. Among authors: bourrat e. Hum Mutat. 2019 Dec;40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6. Hum Mutat. 2019. PMID: 31347739
Genetics of Inherited Ichthyoses and Related Diseases.
Fischer J, Bourrat E. Fischer J, et al. Among authors: bourrat e. Acta Derm Venereol. 2020 Mar 25;100(7):adv00096. doi: 10.2340/00015555-3432. Acta Derm Venereol. 2020. PMID: 32147747 Free PMC article. Review.
177 results