Results 131 to 140 of about 192,458 (292)
eJHaem, Volume 6, Issue 4, August 2025.ABSTRACT Introduction Type 3 hereditary hemochromatosis (HH) is a rare genetic disease due to mutations in the transferrin receptor 2 (TFR2) gene. Methods and Results Here, we describe the case of an Italian patient presenting with hyperferritinemia and hepatic iron accumulation, not evidenced by magnetic resonance imaging, that was subsequently ...
Miriam Longo +9 more
wiley +1 more source
Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? [PDF]
, 2002 The major histocompatibility complex (MHC) shows a remarkable conservation of particular HLA antigens and haplotypes in linkage disequilibrium in most human populations, suggesting the existence of a convergent evolution.
Alves, H. +8 more
core +1 more source
eJHaem, 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
PLoS ONE, 2019 Hepatic iron overload, a hallmark of hereditary hemochromatosis, triggers progressive liver disease. There is also increasing evidence for a pathogenic role of iron in non-alcoholic fatty liver disease (NAFLD), which may progress to non-alcoholic ...
John Wagner +7 more
doaj +1 more source
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis [PDF]
, 2014 Mutations in hemojuvelin (HJV) are the most common cause of the juvenile-onset form of the iron overload disorder hereditary hemochromatosis. The discovery that HJV functions as a co-receptor for the bone morphogenetic protein (BMP) family of signaling ...
Babitt, Jodie L. +2 more
core +2 more sources
The pathophysiology, presentation and classification of Type 1 diabetes
Diabetes, Obesity and Metabolism, Volume 27, Issue S6, Page 15-27, August 2025.Abstract Type 1 diabetes is characterised by the autoimmune destruction of pancreatic β‐cells, leading to an absolute or near‐absolute insulin deficiency. Although traditionally associated with childhood onset, it can manifest at any age, and it is increasingly recognised that there is significant heterogeneity in its clinical presentation. This review
Kristie I. Aamodt, Alvin C. Powers
wiley +1 more source
Long-term survival in patients with hereditary hemochromatosis [PDF]
, 1996 Claus Niederau +5 more
openalex +1 more source
How mutant HFE causes hereditary hemochromatosis.
Blood, 2014 In this issue of Blood , Wu et al describe the molecular function of HFE , the gene most commonly mutated in hereditary hemochromatosis (HH). 1 HH is the most frequent genetic disorder of the Western world.
M. Muckenthaler
semanticscholar +1 more source
Journal of Diabetes Investigation, Volume 16, Issue 8, Page 1409-1419, August 2025.Our study provides genetic analysis supporting the beneficial effects of GLP1 action on MASLD. These benefits may be attributed to mechanisms such as lowering blood glucose levels, reducing blood pressure, and improving HDL cholesterol levels. ABSTRACT Purpose Previous studies have shown that glucagon‐like peptide 1 (GLP1) receptor agonists may help ...
Zhiqiang Ma +3 more
wiley +1 more source
Iron Release From Human Monocytes After Erythrophagocytosis In Vitro: An Investigation in Normal Subjects and Hereditary Hemochromatosis Patients [PDF]
, 1998 Eunice Moura +4 more
openalex +1 more source