Results 71 to 80 of about 10,302 (227)

New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia

Haematologica, 2019
Genetic iron-overload disorders, mainly hereditary hemochromatosis and untransfused β-thalassemia, affect a large population worldwide. The primary etiology of iron overload in these diseases is insufficient production of hepcidin by the liver, leading ...
Jing Liu, Wei Liu, Yin Liu, Yang Miao, Yifan Guo, Haoyang Song, Fudi Wang, Hongyu Zhou, Tomas Ganz, Bing Yan, Sijin Liu   +10 more
doaj   +1 more source

Functional immune profiling reveals CD4+ T cell dysregulation in coeliac disease

Immunology &Cell Biology, EarlyView.
The T cell momentum assay quantifies division, survival and activation decay to reveal intrinsic CD4+ programming defects marked by prolonged activation and impaired feedback control in coeliac disease. This scalable platform provides a functional screen for early T cell dysregulation across autoimmune and immune‐mediated diseases.
Anthony J Farchione, HoChan Cheon, David Vremec, Julika Neumann, Gwenny M Verstappen, Melinda Y Hardy, Mai B Margetts, Lauren J Howson, Lee M Henneken, Maureen Forde, Jason A Tye‐Din, Susanne Heinzel, Philip D Hodgkin, Vanessa L Bryant   +13 more
wiley   +1 more source

Hepatic Iron Deposition Does Not Predict Extrahepatic Iron Loading in Mouse Models of Hereditary Hemochromatosis

, 2012
Hereditary hemochromatosis is characterized by tissue iron loading and associated organ damage. However, the phenotype can be highly variable. The relationship between iron loading of different organs and the temporal nature of its deposition is still ...
Wallace, D.F., Subramaniam, V. Nathan, Ramm, G.A., Wockner, Leesa F., Ostini, L., Wockner, L.F., Lusby, P.E., Ramm, Grant A., Wallace, Daniel F., McDonald, Cameron J., McDonald, C.J., Lusby, Patricia E., Ostini, Lesa, Subramaniam, V.N.   +13 more
core   +1 more source

Senescent Human Liver Endothelial Cells Mediate CD4+ T Cell Recruitment via ICOSL

Immunology, EarlyView.
In this study, we detect senescent endothelial cells within chronically diseased human liver tissues. Next, we develop a novel protocol for the induction of paracrine senescence in primary human liver endothelial cells and explore their functionality.
Daniel A. Patten, Amy Lumley, Alex L. Wilkinson, Ayla O’Keeffe, Kelvin Yin, Niranjan Shirgaonkar, Ran Gao, Ramanuj DasGupta, Matthew Hoare, Shishir Shetty   +9 more
wiley   +1 more source

Diagnosis of hereditary hemochromatosis in the era of genetic testing

, 2012
Background Homozygous C282Y mutation in HFE gene is responsible for the majority of hereditary hemochromatosis cases. Since 1996 this mutation can be identified by a simple genetic test.
Stuhrmann, Manfred, Butzeck, Barbara, Krayenbuehl, Pierre A, Trieß, Christiane, Kulaksiz, Hasan, von Figura, Guido, Strnad, Pavel   +6 more
core   +1 more source

CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients

Haematologica, 2012
Background Most patients with hereditary hemochromatosis in the Caucasian population are homozygous for the p.C282Y mutation in the HFE gene. The penetrance and expression of hereditary hemochromatosis differ largely among cases of homozygous p.C282Y ...
Sara Pelucchi, Raffaella Mariani, Stefano Calza, Anna Ludovica Fracanzani, Giulia Litta Modignani, Francesca Bertola, Fabiana Busti, Paola Trombini, Mirella Fraquelli, Gian Luca Forni, Domenico Girelli, Silvia Fargion, Claudia Specchia, Alberto Piperno   +13 more
doaj   +1 more source

Acute pain transfusion reaction in a patient with thalassemia: In‐depth characterization of short‐ and long‐term phenotypes

Transfusion, EarlyView.
Abstract Background Acute pain transfusion reaction (APTR) is a rare, under‐recognized condition of unknown etiology. It can cause significant distress in recipients, necessitating symptomatic management and, occasionally, hospitalization. Study Design and Methods Here, we present an APTR event in an adult subject with transfusion‐dependent thalassemia
Georgia Tzafa, Sophia Delicou, Ioanna Barla, Konstantina Theocharaki, Aggeliki Kondi, Athanassios D. Velentzas, Nikolaos Simantiris, Elli‐Anna Stylianaki, George Mpekoulis, Efthymia Pavlou, Niki Vassilaki, Ioannis V. Kostopoulos, Aikaterini Xydaki, Efrosyni Nomikou, Ioanna‐Katerina Aggeli, Nikolaos Thomaidis, Evangelos Gikas, Martina Samiotaki, Jerome Zoidakis, Constantina Politis, Marianna H. Antonelou   +20 more
wiley   +1 more source

HLA and hemochromatosis disease association in São Miguel Island

, 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  

Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE).

, 2014
International audienceThe management and understanding of hereditary hemochromatosis have evolved with recent advances in iron biology and the associated discovery of numerous genes involved in iron metabolism.
Brissot, Pierre, Bardou-Jacquet, Edouard
core   +1 more source

In-silico Molecular Analysis of Mutated Sequences of HFE1, HFE2, TFR2 and SLC40A1 causing Hemochromatosis Disease [PDF]

International Journal Bioautomation, 2011
Hemochromatosis is a disorder in iron metabolism that is characterized by excess iron absorption. There are two forms of hemochromatosis: primary hemochromatosis is caused by a problem with your genes.
Bilal Hussain, Hassan Tariq, Tayyaba Sultana, Shahid Mahboob, Tariq Niaz   +4 more
doaj