Results 131 to 140 of about 198,942 (291)

Iron homeostasis in health and disease [PDF]

, 2016
Iron is required for the survival of most organisms, including bacteria, plants, and humans. Its homeostasis in mammals must be fine-tuned to avoid iron deficiency with a reduced oxygen transport and diminished activity of Fe-dependent enzymes, and also ...
Arosio, Paolo, Gozzelino, Raffaella
core   +2 more sources

Sporadic porphyria cutanea tarda due to haemochromatosis [PDF]

, 2006
Haemochromatosis is a hereditary iron-overload syndrome caused by increased intestinal iron absorption and characterised by accumulation of potentially toxic iron in the tissues.
Dees, A., Geus, H.R.H. (Hilde) de
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Leukocyte telomere length is associated with iron overload in male adults with hereditary hemochromatosis [PDF]

, 2020
Maximiliano Martín, Andrea Millán, Florencia Ferraro, Walter Tetzlaff, Ezequiel Lozano Chiappe, Eliana Botta, Marcelo Castro, Laura Boero, Rey J, Jorge Daruich, Gustavo Frechtel, Tomás Meroño, Gloria Edith Cerrone, Fernando Brites   +13 more
openalex   +1 more source

Hereditary hemochromatosis: An opportunity for gene therapy

Biological Research, 2006
Levels of body iron should be tightly controlled to prevent the formation of oxygen radicals, lipoperoxidation, genotoxicity, and the production of cytotoxic cytokines, which result in damage to a number of organs.
FERNANDO EZQUER, MARCO T NÚÑEZ, ALEJANDRO ROJAS, JUAN ASENJO, YEDY ISRAEL   +4 more
doaj  

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

European Journal of Human Genetics, 2015
Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk.
G. Porto, P. Brissot, D. Swinkels, H. Zoller, O. Kamarainen, S. Patton, I. Alonso, M. Morris, S. Keeney   +8 more
semanticscholar   +1 more source

Do All Hemochromatosis Patients Have the Same Origin? A Pilot Study of Mitochondrial DNA and Y-DNA

Canadian Journal of Gastroenterology, 2011
BACKGROUND: Mitochondrial DNA (mtDNA) and Y-DNA analysis have been widely used to predict ancestral origin. Genetic anthropologists predict that human civilizations may have originated in central Africa one to two million years previously.
Caitlin J Symonette, Paul C Adams
doaj   +1 more source

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review

Orphanet Journal of Rare Diseases, 2019
Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal skin pigmentation, cardiomyopathy, hypogonadism, and diabetes ...
Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang, Xiaoping Chen   +6 more
doaj   +1 more source

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

Hepatic Iron Overload: Direct HLA-HMutation AnalysisvsQuantitative Iron Assays for the Diagnosis of Hereditary Hemochromatosis [PDF]

, 1998
Richard D. Press, Ken Flora, Cindy N. Gross, John M. Rabkin, Christopher L. Corless   +4 more
openalex   +1 more source

Bases moleculares de la hemocromatosis hereditaria [PDF]

, 2016
La hemocromatosis hereditaria es la enfermedad más relevante dentro de las enfermedades hereditarias debido a su alta prevalencia. Se trata de una enfermedad del metabolismo del hierro que está afectada una correcta eliminación de este por el organismo y
Ramírez Trujillo, Cristina
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