Results 111 to 120 of about 191,909 (291)

Iron overload [PDF]

open access: yes, 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

Serum Ferritin in Women With HFE p.C282Y Homozygosity: Positive Associations With Age, Live Births, Menopause, and Transferrin Saturation

open access: yeseJHaem, Volume 6, Issue 4, August 2025.
ABSTRACT Background We sought to determine associations of serum ferritin (SF) with live birth numbers and other iron‐related variables in women with HFE p.C282Y (rs1800562) homozygosity. Methods We studied non‐pregnant, non‐Hispanic white women in post‐screening evaluations to determine associations of SF with age, pregnancy and live birth numbers ...
James C. Barton   +2 more
wiley   +1 more source

HLA and hemochromatosis disease association in São Miguel Island [PDF]

open access: yes, 2008
Mestrado em Biologia Molecular e CelularA hemocromatose hereditária uma doença autossómica recessiva do metabolismo do ferro, geralmente associada à mutação C282Y no gene HFE. Presume-se que a origem desta mutação tenha ocorrido por acaso no haplótipo
Gomes, Cidália Maria Teixeira
core   +1 more source

Identification of New Key Players for Ferrous Iron Export in the Asymmetric Inner Gate of Human Ferroportin 1

open access: yesThe FASEB Journal, Volume 39, Issue 14, 31 July 2025.
Ferroportin 1 is an iron exporter belonging to the Major Facilitator Superfamily. Its unusual intracellular gate is formed by asymmetric networks of non‐covalent bonds. We analyzed these networks using Molecular Dynamics simulations and experimental tests and identified novel amino acids as key players in inter‐lobe connections.
Marlène Le Tertre   +8 more
wiley   +1 more source

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

open access: yesOrphanet 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   +6 more
doaj   +1 more source

Mutações no gene HFE (C282Y, H63D, S65C) em uma população brasileira [PDF]

open access: yes, 2006
Hereditary hemochromatosis (HH) is the most common genetic disorder occurring in individuals of northern European descent. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately leads to organ
Bueno, Simone   +2 more
core   +2 more sources

The Role of Iron Chelation Therapy in Colorectal Cancer: A Systematic Review on Its Mechanisms and Therapeutic Potential

open access: yesCancer Medicine, Volume 14, Issue 13, July 2025.
Iron chelation is a promising yet underexplored strategy for colorectal cancer (CRC) treatment. Iron chelators have a dual role in inhibiting and potentially promoting cancer progression. Iron chelation affects key CRC pathways, including histone methylation, NDRG1 upregulation, Wnt/β‐catenin, and p53 modulation.
Gihani Vidanapathirana   +4 more
wiley   +1 more source

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

open access: yesPLoS 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   +4 more
semanticscholar   +1 more source

Mutation Analysis in Hereditary Hemochromatosis

open access: yesBlood 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   +15 more
openaire   +3 more sources

Secondary Erythrocytosis Among Type 2 Diabetes Mellitus Patients With Hypogonadism Using Sodium‐Glucose Cotransporter 2 Inhibitors and Testosterone Replacement Therapy

open access: yesEndocrinology, Diabetes &Metabolism, Volume 8, Issue 4, July 2025.
Given the frequent association between T2DM and the wide availability and administration of SGLT‐2i as a novel anti‐diabetic class on the one hand and hypogonadism with TRT on the other, concurrent administration may precipitate secondary erythrocytosis.
Maharan Kabha   +5 more
wiley   +1 more source

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