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Page 1
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.
Ciccodicola A, D'Esposito M, Esposito T, Gianfrancesco F, Migliaccio C, Miano MG, Matarazzo MR, Vacca M, Franzè A, Cuccurese M, Cocchia M, Curci A, Terracciano A, Torino A, Cocchia S, Mercadante G, Pannone E, Archidiacono N, Rocchi M, Schlessinger D, D'Urso M. Ciccodicola A, et al. Hum Mol Genet. 2000 Feb 12;9(3):395-401. doi: 10.1093/hmg/9.3.395. Hum Mol Genet. 2000. PMID: 10655549
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL. Smahi A, et al. Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114. Nature. 2000. PMID: 10839543
Mutation analysis of the DKC1 gene in incontinentia pigmenti.
Heiss NS, Poustka A, Knight SW, Aradhya S, Nelson DL, Lewis RA, Esposito T, Ciccodicola A, D'Urso M, Smahi A, Heuertz S, Munnich A, Vabres P, Woffendin H, Kenwrick S. Heiss NS, et al. J Med Genet. 1999 Nov;36(11):860-2. J Med Genet. 1999. PMID: 10636732 Free PMC article. No abstract available.
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.
Aradhya S, Ahobila P, Lewis RA, Nelson DL, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Woffendin H, Kenwrick S, Smahi A, Heuertz S, Munnich A, Heiss NS, Poustka A, Chishti AH. Aradhya S, et al. Am J Med Genet. 2000 Sep 4;94(1):79-84. doi: 10.1002/1096-8628(20000904)94:1<79::aid-ajmg17>3.0.co;2-m. Am J Med Genet. 2000. PMID: 10982489 No abstract available.