Results 71 to 80 of about 192,458 (292)

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. [PDF]

, 2014
Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional ...
Amin, Najaf, Anderson, Denise, Bandinelli, Stefania, Beilby, John, Benyamin, Beben, Broer, Linda, Camaschella, Clara, Demirkan, Ayse, Esko, Tonu, Franke, Lude, Gieger, Christian, Gögele, Martin, Heath, Andrew C, Hernandez, Dena, Hicks, Andrew A, Hui, Jennie, Häldin, Jonas, Hälldin, Jonas, Isaacs, Aaron, Jolley, Jennifer, Kiemeney, Lambertus A, Kutalik, Zoltan, Langenberg, Claudia, Luan, Jian'An, Madden, Pamela A. F, Martin, Nicholas G, Meitinger, Thomas, Metspalu, Andres, Mihailov, Evelin, Milani, Lili, Montgomery, Grant W, Nyholt, Dale R, Oexle, Konrad, Ouwehand, Willem H, PANICO, SALVATORE, Peters, Annette, Pichler, Irene, Podmore, Clara, Powell, Joseph E, Pramstaller, Peter P, Radhakrishnan, Aparna, Rendon, Augusto, Ried, Janina S, Sala, Cinzia F, Sambrook, Jennifer, Sanna, Serena, Schwienbacher, Christine, Scott, Robert A, Steri, Maristella, Sweep, Fred C, Swinkels, Dorine W, Tanaka, Toshiko, Thiery, Joachim, Toniolo, Daniela, Traglia, Michela, Uda, Manuela, van der Harst, Pim, van der Meer, Peter, van Duijn, Cornelia, Vermeulen, Sita H, Verweij, Niek, Visscher, Peter M, Vollenweider, Peter, Waeber, Gérard, Waldenberger, Melanie, Wang, Fudi, Wareham, Nicholas J, Westra, Harm Jan, Whitfield, John B., Winkelmann, Juliane, Wright, Margaret J   +70 more
core   +9 more sources

Hemochromatosis Treatment by Venipuncture Through History: Applying Venipuncture in the Treatment of Hemochromatosis

Southeastern European Medical Journal, 2018
Hemochromatosis is a hereditary disease caused by the mutation of genes responsible for regulating iron metabolism in the body. The mutation results in elevated iron absorption from the food that is deposited and stored in various organs and tissues. Due
Marija Čuljak
doaj   +1 more source

Neogenin-mediated hemojuvelin shedding occurs after hemojuvelin traffics to the plamsa membrane [PDF]

, 2008
Hemochromatosis type 2 gene (HFE2) is highly expressed in skeletal muscle and liver hepatocytes. Its encoded protein, hemojuvelin (HJV), is a co-receptor for the bone morphogenetic proteins 2 and 4 (BMP2 and BMP4) and enhances the BMP-induced hepcidin ...
Altschuler, Babitt, Babitt, Bowman, Camaschella, Chadda, Cole, De Gobbi, Feng, Hammond, Hentze, Huang, Keeling, Krijt, Kuninger, Lin, Lin, Lin, Macia, Matsunaga, Mawdsley, Mayor, Mayor, Meyerhardt, Nemeth, Nichols, Niederkofler, Niederkofler, Oldekamp, Orlandi, Papanikolaou, Park, Pigeon, Roy, Samad, Schmidt, Schmidtmer, Silvestri, Silvestri, Subtil, ten Dijke, Thomas, VanSlyke, Vielmetter, Wang, Wilson, Wilson, Wilson, Yang, Zhang, Zhang, Zhang   +51 more
core   +3 more sources

Eligibility and Exclusion of Hemochromatosis Patients as Voluntary Blood Donors

Canadian Journal of Gastroenterology, 1998
BACKGROUND: Hereditary hemochromatosis patients are excluded in many countries as voluntary blood donors. In 1991, changes in the Canadian Red Cross policy allowed healthy hemochromatosis patients to become voluntary donors.
M Levstik, PC Adams
doaj   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Prevalence of iron deficiency in 62,685 women of seven race/ethnicity groups: The HEIRS Study. [PDF]

, 2020
BackgroundFew cross-sectional studies report iron deficiency (ID) prevalence in women of different race/ethnicity and ages in US or Canada.Materials and methodsWe evaluated screening observations on women who participated between 2001-2003 in a cross ...
Acton, Ronald T, Adams, Paul C, Barton, James C, Eckfeldt, John H, Gordeuk, Victor R, Harris, Emily L, Harrison, Helen, McLaren, Christine E, McLaren, Gordon D, Reboussin, David M, Wiener, Howard H   +10 more
core  

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Hypogonadotropic hypogonadism in men with hereditary hemochromatosis

Basic and Clinical Andrology, 2017
Hereditary hemochromatosis is a genetic disease that progresses silently. This disease is often diagnosed late when complications appear. Hypogonadotropic hypogonadism (HH) is one of the classical complications of hemochromatosis.
R. El Osta, Nicolas Grandpré, Nicolas Monnin, J. Hubert, I. Koscinski   +4 more
semanticscholar   +1 more source

Rare autosomal dominant hereditary hemochromatosis associated with SLC40A1 gene: ferroportin disease or type 4 hereditary hemochromatosis? [PDF]

, 2019
Ferroportin (FPN1), encoded by the SLC40A1 gene, is the unique cellular iron exporter identified in mammals. FPN1 transfers iron from the intestine and macrophages into the bloodstream. This function is negatively regulated by hepcidin.
Faustino, Paula, Fleming, Rita, Lavinha, João, Machado, Miguel P., Mendonça, Joana, Simão, Rita, Tavares, Wilson, Vieira, Luís   +7 more
core  

Manganese Neurotoxicity and Familial Disorders of Manganese Transport

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Manganese is the 12th most common element in the Earth's crust and is an essential industrial component. Biologically, this metal plays an important role as a constituent of numerous enzymes. While manganese is required for normal biochemical and physiological processes, manganese excess can lead to significant toxicity, particularly to the ...
Sidney M. Gospe Jr.
wiley   +1 more source