Results 121 to 130 of about 192,458 (292)

Evaluation of a High Throughput Method for the Detection of Mutations Associated with Thrombosis and Hereditary Hemochromatosis in Brazilian Blood Donors

PLoS ONE, 2015
Background The aim of this study was to evaluate the OpenArray platform for genetic testing of blood donors and to assess the genotype frequencies of nucleotide-polymorphisms (SNPs) associated with venous thrombosis (G1691A and G20210A ...
Vivian Dionisio Tavares Niewiadonski, Juliana Vieira dos Santos Bianchi, C. de Almeida-Neto, N. Gaburo, E. Sabino   +4 more
semanticscholar   +1 more source

Mutation Analysis in Hereditary Hemochromatosis

Blood Cells, Molecules, and Diseases, 1996
The DNA of 147 patients of European origin clinically diagnosed with idiopathic hemochromatosis and 193 controls was examined for mutations of the HLA-H gene at nt 845 and nt 187. One hundred twenty-one (82.3%) of the hemochromatosis patients were homozygous and 10 (6.8%) heterozygous for the 845A (C282Y) mutation.
Michele Adams, Michael P. Kosty, Amy E. Ten Elshof, Charles P. Venditti, Charles P. Venditti, Carol West, Glenn S. Gerhard, Pauline Lee, Pradyumna D. Phatak, Terri Gelbart, Ryan Blackstone, Ernest Beutler, Karen Chorney, Michael J. Chorney, Paul J. Pockros, Nicole K. Seese   +15 more
openaire   +3 more sources

Iron‐dependent lysosomal LDL oxidation induces the expression of scavenger receptor A in human THP‐1 monocytes

FEBS Open Bio, Volume 15, Issue 8, Page 1246-1266, August 2025.
In human monocytic cells THP‐1, a limited uptake of native—not oxidized—LDL/VLDL induced expression of scavenger receptor A and cellular adhesion. Induction was inhibited by lysosomotropic (WR‐1065) and lipophilic (BHT) antioxidants and by siRNAs against ferritinophagy.
Martina Čierna, Richard Buchal, Martin Leníček, Amit Shachak, Jan Pláteník   +4 more
wiley   +1 more source

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3

Molecular Genetics & Genomic Medicine, 2015
Hereditary hemochromatosis (HH) type 3 is an autosomal recessive disorder of iron metabolism characterized by excessive iron deposition in the liver and caused by mutations in the transferrin receptor 2 (TFR2) gene.
Ricky S. Joshi, Maya Shvartsman, Érica Morán, Sergio Lois, J. Aranda, Anna Barqué, X. de la Cruz, M. Bruguera, J. Vagace, G. Gervasini, C. Sanz, Mayka Sánchez   +11 more
semanticscholar   +1 more source

Iron overload [PDF]

, 2015
The normal iron content of the body is 3---4 g. It exists in hemoglobin, in iron-containing proteins different to hemoglobin, in iron bound to transferrin in plasma, and in the form of ferritin and hemosiderin.
Marfil Rivera, Luis Javier
core   +1 more source

Hypoferremic Response to Chronic Inflammation Is Controlled via the Hemojuvelin/Hepcidin/Ferroportin Axis and Does Not Involve Hepcidin‐Independent Regulation of Fpn mRNA

American Journal of Hematology, Volume 100, Issue 8, Page 1323-1333, August 2025.
ABSTRACT The iron regulatory hormone hepcidin contributes to the pathogenesis of anemia of inflammation (AI) by inhibiting the iron exporter ferroportin in target cells, causing hypoferremia. Under acute inflammation, hepcidin induction requires hemojuvelin (Hjv), a bone morphogenetic protein co‐receptor, while Fpn mRNA is also suppressed in a hepcidin‐
Siqi Liu, Sofiya Tsyplenkova, Carine Fillebeen, Kostas Pantopoulos   +3 more
wiley   +1 more source

Semaglutide‐Induced Hepatic Injury: A Rare Case of Drug Induced Liver Injury

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Semaglutide, a glucagon‐like peptide‐1 (GLP‐1) receptor agonist, is widely used for type 2 diabetes mellitus and has demonstrated hepatoprotective effects. However, this case highlights a rare instance of possible drug‐induced liver injury (DILI) temporally linked to its use. A middle‐aged male with well‐controlled diabetes, social alcohol use,
Rupayan Kundu, Lyudmila Shtoff
wiley   +1 more source

Time-course analysis of serum hepcidin, iron and cytokines in a C282Y homozygous patient with Schnitzler’s syndrome treated with IL-1 receptor antagonist

Haematologica, 2009
It is currently unknown if the increase of the hepatic iron regulatory hormone hepcidin during inflammation in man depends on an intact HFE-protein. Here we describe the temporal relationship of serum hepcidin, serum iron and cytokines in a patient with ...
Marcel van Deuren, Joyce J. C. Kroot, Dorine W. Swinkels   +2 more
doaj   +1 more source

Primary (hereditary) hemochromatosis

Bulletin of the Club of Pancreatologists, 2017
The lecture presents modern ideas on hereditary hemochromatosis. In particular, the metabolism of iron in normal and pathological conditions is described, as well as the definition and terminology of hemochromatosis, its etiology and pathogenesis.
openaire   +2 more sources

Persistent AST Elevation in a Patient With Ovarian Cancer: A Rare Diagnostic Challenge

Journal of Clinical Laboratory Analysis, Volume 39, Issue 15, August 2025.
ABSTRACT Background Persistent elevation of aspartate aminotransferase (AST) is commonly indicative of liver injury or disease, but isolated AST elevation without concurrent alanine aminotransferase (ALT) increase is rare and difficult to diagnose. While AST is non‐specific and found in various tissues, its isolated elevation is due to less common ...
Lechuang Chen, Yu Zhang, Qing H. Meng
wiley   +1 more source