Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

Autor: Papanikolaou, G Samuels, ME Ludwig, EH MacDonald, MLE and Franchini, PL Dube, MP Andres, L MacFarlane, J and Sakellaropoulos, N Politou, M Nemeth, E Thompson, J and Risler, JK Zaborowska, C Babakaiff, R Radomski, CC Pape, TD Davidas, O Christakis, J Brissot, P Lockitch, G and Ganz, T Hayden, MR Goldberg, YP

Juvenile hemochromatosis is an early-onset autosomal recessive disorder of iron overload resulting in cardiomyopathy, diabetes and hypogonadism that presents in the teens and early 20s (refs. 1,2). Juvenile hemochromatosis has previously been linked

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::6028d877b43f6083d437395d5e7828fc
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3085075

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A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans.

Autor: Acuña-Alonzo V; Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Universidad Nacional Autónoma de México, Mexico City 14000, Mexico., Flores-Dorantes T, Kruit JK, Villarreal-Molina T, Arellano-Campos O, Hünemeier T, Moreno-Estrada A, Ortiz-López MG, Villamil-Ramírez H, León-Mimila P, Villalobos-Comparan M, Jacobo-Albavera L, Ramírez-Jiménez S, Sikora M, Zhang LH, Pape TD, Granados-Silvestre Mde A, Montufar-Robles I, Tito-Alvarez AM, Zurita-Salinas C, Bustos-Arriaga J, Cedillo-Barrón L, Gómez-Trejo C, Barquera-Lozano R, Vieira-Filho JP, Granados J, Romero-Hidalgo S, Huertas-Vázquez A, González-Martín A, Gorostiza A, Bonatto SL, Rodríguez-Cruz M, Wang L, Tusié-Luna T, Aguilar-Salinas CA, Lisker R, Moises RS, Menjivar M, Salzano FM, Knowler WC, Bortolini MC, Hayden MR, Baier LJ, Canizales-Quinteros S

Publikováno v: Human molecular genetics [Hum Mol Genet] 2010 Jul 15; Vol. 19 (14), pp. 2877-85. Date of Electronic Publication: 2010 Apr 23.

Tissue-specific induction of intestinal ABCA1 expression with a liver X receptor agonist raises plasma HDL cholesterol levels.

Autor: Brunham LR; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Kruit JK, Pape TD, Parks JS, Kuipers F, Hayden MR

Publikováno v: Circulation research [Circ Res] 2006 Sep 29; Vol. 99 (7), pp. 672-4. Date of Electronic Publication: 2006 Aug 31.