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A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
Kuiper JJ, Van Setten J, Ripke S, Van 'T Slot R, Mulder F, Missotten T, Baarsma GS, Francioli LC, Pulit SL, De Kovel CG, Ten Dam-Van Loon N, Den Hollander AI, Huis in het Veld P, Hoyng CB, Cordero-Coma M, Martín J, Llorenç V, Arya B, Thomas D, Bakker SC, Ophoff RA, Rothova A, De Bakker PI, Mutis T, Koeleman BP. Kuiper JJ, et al. Hum Mol Genet. 2014 Nov 15;23(22):6081-7. doi: 10.1093/hmg/ddu307. Epub 2014 Jun 22. Hum Mol Genet. 2014. PMID: 24957906 Free PMC article.
Aberrant leukocyte telomere length in Birdshot Uveitis.
Vazirpanah N, Verhagen FH, Rothova A, Missotten TOAR, van Velthoven M, Den Hollander AI, Hoyng CB, Radstake TRDJ, Broen JCA, Kuiper JJW. Vazirpanah N, et al. PLoS One. 2017 May 1;12(5):e0176175. doi: 10.1371/journal.pone.0176175. eCollection 2017. PLoS One. 2017. PMID: 28459868 Free PMC article.
Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
Kuiper JJW, Setten JV, Devall M, Cretu-Stancu M, Hiddingh S, Ophoff RA, Missotten TOAR, Velthoven MV, Den Hollander AI, Hoyng CB, James E, Reeves E, Cordero-Coma M, Fonollosa A, Adán A, Martín J, Koeleman BPC, Boer JH, Pulit SL, Márquez A, Radstake TRDJ. Kuiper JJW, et al. Hum Mol Genet. 2018 Dec 15;27(24):4333-4343. doi: 10.1093/hmg/ddy319. Hum Mol Genet. 2018. PMID: 30215709 Free PMC article.
New insights into the genetic component of non-infectious uveitis through an Immunochip strategy.
Márquez A, Cordero-Coma M, Martín-Villa JM, Gorroño-Echebarría MB, Blanco R, Díaz Valle D, Del Rio MJ, Blanco A, Olea JL, Cordero Y, Capella MJ, Díaz-Llopis M, Ortego-Centeno N, Ruiz-Arruza I, Llorenç V, Adán A, Fonollosa A, Ten Berge J, Atan D, Dick AD, De Boer JH, Kuiper J, Rothova A, Martín J. Márquez A, et al. J Med Genet. 2017 Jan;54(1):38-46. doi: 10.1136/jmedgenet-2016-104144. Epub 2016 Sep 8. J Med Genet. 2017. PMID: 27609017 Free article.
98 results