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Page 1
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: hausser i. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. Nat Genet. 2012. PMID: 22246504
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J. Heinz L, et al. Among authors: hausser i. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007. Am J Hum Genet. 2017. PMID: 28575648 Free PMC article.
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: hausser i. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717
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: hausser i. Hum Mutat. 2019 Dec;40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6. Hum Mutat. 2019. PMID: 31347739
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.
Komlosi K, Claris O, Collardeau-Frachon S, Kopp J, Hausser I, Mazereeuw-Hautier J, Jonca N, Zimmer AD, Sanlaville D, Fischer J. Komlosi K, et al. Among authors: hausser i. Front Genet. 2021 Dec 8;12:719624. doi: 10.3389/fgene.2021.719624. eCollection 2021. Front Genet. 2021. PMID: 34956305 Free PMC article.
Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.
Hake L, Süßmuth K, Komlosi K, Kopp J, Drerup C, Metze D, Traupe H, Hausser I, Eckl KM, Hennies HC, Fischer J, Oji V. Hake L, et al. Among authors: hausser i. J Eur Acad Dermatol Venereol. 2022 Apr;36(4):582-591. doi: 10.1111/jdv.17873. Epub 2022 Jan 13. J Eur Acad Dermatol Venereol. 2022. PMID: 34908195
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.
Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP. Blaydon DC, et al. Among authors: hausser i. Am J Hum Genet. 2011 Oct 7;89(4):564-71. doi: 10.1016/j.ajhg.2011.09.001. Epub 2011 Sep 22. Am J Hum Genet. 2011. PMID: 21944047 Free PMC article.
207 results