Results 31 to 40 of about 3,374,032 (169)

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

Haematologica, 2018
Hemochromatosis type 4 is one of the most common causes of primary iron overload, after HFE-related hemochromatosis. It is an autosomal dominant disorder, primarily due to missense mutations in SLC40A1.
Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac   +15 more
doaj   +1 more source

Exploring the potential of cluster analysis in identifying disease phenotypes in CPPD: Moving from intuition to insight

Arthritis &Rheumatology, Accepted Article.
Background Calcium pyrophosphate deposition (CPPD) disease is a heterogeneous condition and is frequently misdiagnosed due to the different clinical presentations and variable disease progression. Aim of this study is to identify clinical phenotypes of CPPD disease by integrating real‐world data from two datasets. Methods Data from the COLCHICORT trial
Greta Pellegrino, Laurène Norberciak, Silvia Sirotti, Abhishek Abhishek, Mariano Andrès, Edoardo Cipolletta, Julien Damart, Renaud Desbarbieux, Pilar Diez, Vincent Ducoulombier, Hang‐Korng Ea, Emilio Filippucci, Charlotte Jauffret, Augustin Latourte, Jean‐Guillaume Letarouilly, Sébastien Ottaviani, Laura Pezzoni, Pascal Richette, Pierre Robinet, Georgios Filippou, Tristan Pascart   +20 more
wiley   +1 more source

Safety Aspects of Iron in Food [PDF]

, 2001
During the last decades efforts regarding dietary iron supply focused mostly on the prevention of deficiencies, especially during growth and pregnancy.
Schümann, Klaus
core   +1 more source

Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians.

PLoS ONE, 2019
Homozygosity for the p.C282Y substitution in the HFE protein encoded by the hemochromatosis gene on chromosome 6p (HFE) is a common genetic trait that increases susceptibility to iron overload. McLaren et al.
Christine E McLaren, Wen-Pin Chen, Nadine A Bertalli, Martin B Delatycki, Graham G Giles, Dallas R English, John L Hopper, Katrina J Allen, Lyle C Gurrin   +8 more
doaj   +1 more source

The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia

Blood Science, 2022
. Variants in the solute carrier family 40 member 1 (SLC40A1) gene are the molecular basis of ferroportin disease, which is an autosomal dominant hereditary hemochromatosis.
Hongfei Wu, Xiang Ren, Meili Ge, Peiyuan Dong, Shichong Wang, Huiming Yi, Xingxin Li, Jiali Huo, Xuan Zheng, Mengying Gao, Jinbo Huang, Jing Zhang, Min Wang, Peng Jin, Neng Nie, Yingqi Shao, Yizhou Zheng   +16 more
doaj   +1 more source

N‐acetylcysteine for non‐paracetamol‐induced acute liver failure in children: A systematic review and meta‐analysis

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Non‐surgical treatment of acute liver failure (ALF) is primarily supportive and depends on the underlying cause. While N‐acetylcysteine (NAC) is proven effective in paracetamol‐induced ALF, its potential benefits in non‐paracetamol ALF for paediatric patients remain unclear.
Alise D. E. de Groot, Désanka M. Stoppels, Arno R. Bourgonje, Willemien F. J. Hof, Martin C. J. Kneyber, Daan J. Touw, Henkjan J. Verkade, Paola Mian   +7 more
wiley   +1 more source

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

, 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  

Clinical and Laboratory Associations with Persistent Hyperferritinemia in 373 Black Hemochromatosis and Iron Overload Screening Study Participants

Annals of Hepatology, 2017
Background: 373 black participants had elevated screening and post-screening serum ferritin (SF) (> 300 |ig/L men; > 200 |ig/L women). Material and methods: We retrospectively studied SF and post-screening age; sex; body mass index; transferrin ...
James C. Barton, J. Clayborn Barton, Paul C. Adams   +2 more
doaj   +1 more source

The role of iron in viral infections

Frontiers in Bioscience-Landmark, 2020
Crucial cellular processes such as DNA synthesis and the generation of ATP require iron. Viruses depend on iron in order to efficiently replicate within living host cells.
Sophie Marion Schmidt
doaj   +1 more source

Hereditary hemochromatosis [PDF]

, 2006
The advent of the genetics era has profoundly changed the way we look at iron related diseases, particularly hemochromatosis. New discoveries have challenged historical concepts about the disease, such as its monogenic nature, intestinal origin or ...
PIETRANGELO, Antonello
core   +1 more source