Results 51 to 60 of about 113,339 (205)

Non-HFE hemochromatosis

Revista Brasileira de Hematologia e Hemoterapia, 2012
Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis.
Paulo Caleb Júnior de Lima Santos, Carla Luana Dinardo, Rodolfo Delfini Cançado, Isolmar Tadeu Schettert, José Eduardo Krieger, Alexandre Costa Pereira   +5 more
doaj   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

A study of zinc transporter 1 and its role in Type 3 Haemochromatosis [PDF]

, 2009
Hereditary haemochromatosis is an autosomal recessive disorder of iron metabolism, characterised by increased iron absorption and progressive iron accumulation particularly in the liver.
Parkinson, Liza
core  

Protein Susceptibility to Peroxidation by 4-Hydroxynonenal in Hereditary Hemochromatosis

, 2023
Iron overload caused by hereditary hemochromatosis (HH) increases free reactive oxygen species that, in turn, induce lipid peroxidation. Its 4-hydroxynonenal (HNE) by-product is a well-established marker of lipid peroxidation since it reacts with ...
Paloma Abad, Isabel G. Azcárate, Sandra Sánchez-Jaut, María J. Moran-Jiménez, Puyet Catalina, Antonio, Elena Gómez-Domínguez, Pérez-Benavente, Susana, Díez Martín, Amalia, Gonzalo Galicia-Poblet, Azcárate, Isabel G., Gómez Domínguez, Elena, Antonio Puyet, Moran Jiménez, María J., Susana Pérez-Benavente, Amalia Diez, Méndez Cuadro, Darío, Sánchez-Jaut, Sandra, Bautista Santa Cruz, José Manuel, Darío Méndez-Cuadro, Galicia Poblet, Gonzalo, José M. Bautista, Abad, Paloma   +21 more
core   +1 more source

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

Correction of the iron overload defect in beta-2-microglobulin knockout mice by lactoferrin abolishes their increased susceptibility to tuberculosis. [PDF]

, 2002
As a resident of early endosomal phagosomes, Mycobacterium tuberculosis is connected to the iron uptake system of the host macrophage. beta-2-microglobulin (beta2m) knockout (KO) mice are more susceptible to tuberculosis than wild-type mice, which is ...
Friedrich Priem, Priem, F, Kaufmann, Stefan HE, Collins, Helen L, Ulrich E. Schaible, Kaufmann, S H E, Schaible, Ulrich E, Helen L. Collins, Collins, H L, Priem, Friedrich, Stefan H.E. Kaufmann, Schaible, U E   +11 more
core   +1 more source

Rare Variants in PFIC‐Related Genes Among Adults With Intrahepatic Cholestasis

Hepatology Research, EarlyView.
ABSTRACT Aim Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)‐related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear.
Shunji Hirose, Kota Tsuruya, Yusuke Mishima, Yoshitaka Arase, Koichi Shiraishi, Vu Thi Hao, Satsuki Ieda, Masayuki Tanaka, Sanae Isaki, Tatehiro Kagawa   +9 more
wiley   +1 more source

Mechanisms of Thrombocytosis in Iron‐Deficiency Anemia

European Journal of Haematology, Volume 117, Issue 4, Page 728-738, October 2026.
ABSTRACT Iron‐deficiency anemia is frequently accompanied by reactive thrombocytosis, yet the mechanisms underlying this association remain incompletely understood. Beyond impaired erythropoiesis, iron availability has emerged as an active regulator of hematopoietic lineage decisions.
João Vitor Facco, Diane S. Krause, Sara T. Olalla Saad   +2 more
wiley   +1 more source

Spontaneous Hepatobiliary Disease in a Breeding Colony of Aotus spp.

Journal of Medical Primatology, Volume 55, Issue 5, October 2026.
ABSTRACT Background Owl monkeys are nonhuman primate species in the genus Aotus. The Michale E. Keeling Center for Comparative Medicine and Research maintains an Owl Monkey Breeding and Research Resource composed of four species of owl monkeys: Aotus nancymai, A. vociferans, A. azarae, and A. griseimembra.
M. E. Hensel, G. W. Wilkerson, L. Yan, C. L. Hodo, S. M. Kezar   +4 more
wiley   +1 more source

Iron overload in a murine model of hereditary hemochromatosis is associated with accelerated progression of osteoarthritis under mechanical stress

, 2015
Objective: Hereditary hemochromatosis (HH) is a disease caused by mutations in the Hfe gene characterised by systemic iron overload and associated with an increased prevalence of osteoarthritis (OA) but the role of iron overload in the development of OA ...
F. Simao, Marcio, Cohen-Solal, M, Richette, P., Branco, J., Camacho, A, Richette, P, Camacho, A., Ea, H. -K., Branco, J, Simão, M, Ea, H-K, Cancela, M L, Cohen-Solal, M., Cancela, Leonor   +13 more
core   +1 more source