Results 81 to 90 of about 198,942 (291)

Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review

Open Access Rheumatology: Research and Reviews, 2021
Jubran Alqanatish,1– 3 Banan Alsowailmi,1 Haneen Alfarhan,1 Albandari Alhamzah,1 Talal Alharbi1,2,4 1King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 14611, Saudi Arabia; 2King Abdullah International Medical Research Center (
Alqanatish J, Alsowailmi B, Alfarhan H, Alhamzah A, Alharbi T   +4 more
doaj  

Pathophysiological consequences and benefits of HFE mutations: 20 years of research

Haematologica, 2017
Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in
Ina Hollerer, André Bachmann, Martina U. Muckenthaler   +2 more
doaj   +1 more source

HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface [PDF]

, 2004
Transferrin receptor (TfR) is a dimeric cell surface protein that binds both the serum iron transport protein transferrin (Fe-Tf) and HFE, the protein mutated in patients with the iron overload disorder hereditary hemochromatosis.
Bjorkman, Pamela J., Giannetti, Anthony M.   +1 more
core   +2 more sources

Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants

The journals of gerontology. Series A, Biological sciences and medical sciences, 2019
Background Iron is essential for life but contributes to oxidative damage. In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%–0.6% rare homozygote prevalence) and associated with excessive iron absorption ...
Jone Tamosauskaite, J. Atkins, L. Pilling, Chia-Ling Kuo, G. Kuchel, L. Ferrucci, D. Melzer   +6 more
semanticscholar   +1 more source

Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) study [PDF]

, 2006
Background: Iron has been implicated in the pathogenesis of various disorders. Mutations in the HFE gene are associated with an increase in serum iron parameters.
Alizadeh, B.Z. (Behrooz), Aulchenko, Y.S. (Yurii), Duijn, C.M. (Cornelia) van, Njajou, O.T. (Omer), Oostra, B.A. (Ben), Pols, H.A.P. (Huib), Swinkels, D.W. (Dorine), Zillikens, M.C. (Carola)   +7 more
core   +4 more sources

The role of iron in normal and impaired testicular function

Andrology, EarlyView.
Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA‐A29, and non‐classical forms of hemochromatosis. [PDF]

, 1998
Immunogenetics. 1998 Apr;47(5):404-10. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis.
ALVES, H., CABEDA, J.M., DE SOUSA, M., JUSTICA, B., PORTAL, C., PORTO, G., RODRIGUES, P., RUIVO, A., WOLFF, R.   +8 more
core   +1 more source

Biliary Glutathione as a Potential Marker for Viability Assessment of Cholangiocytes During Normothermic Machine Perfusion of Livers

Artificial Organs, EarlyView.
This study identifies biliary glutathione concentration during normothermic machine perfusion as a potential biomarker for biliary viability. Increasing GSH levels correlate with fewer biliary complications post‐transplant, supporting its role in assessing graft quality and improving decision‐making in liver transplantation.
Christina Bogensperger, Hannah Esser, Florian Ponholzer, Benno Cardini, Julia Hofmann, Franka Messner, Rupert Oberhuber, Thomas Resch, Dietmar Öfner, Stefan Schneeberger, Annemarie Weissenbacher   +10 more
wiley   +1 more source

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

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