Results 51 to 60 of about 25,688 (240)

Uncommon mutations and polymorphisms in the hemochromatosis gene

, 2004
Hereditary hemochromatosis (HH) is a common autosomal recessive disorder of iron metabolism. Iron absorption from the gut is inappropriately high, resulting in increasing iron overload.
Robson, Kathryn J.H., Wallace, Daniel F., Pointon, Jennifer J., Merryweather-Clarke, Alison T.   +3 more
core   +1 more source

Microbial communities and functional diversity in seafood

JSFA reports, EarlyView.
Abstract Functional diversity encompasses ecosystem processes that enhance adaptability to environmental change. This study explores the diversity of microorganisms associated with seafood. In this paper, we present our knowledge of microbial diversity in relation to seafood.
Christian Larbi Ayisi, Samuel Ayeh Osei, Grace Afumwaa Boamah, Gertrude Dzifa Mensah   +3 more
wiley   +1 more source

HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case

Frontiers in Genetics, 2020
HFE-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry.
Wei Zhang, Wei Zhang, Wei Zhang, Xiaoming Wang, Xiaoming Wang, Xiaoming Wang, Weijia Duan, Weijia Duan, Weijia Duan, Anjian Xu, Anjian Xu, Anjian Xu, Xinyan Zhao, Xinyan Zhao, Xinyan Zhao, Jian Huang, Jian Huang, Jian Huang, Jian Huang, Hong You, Hong You, Hong You, Pierre Brissot, Xiaojuan Ou, Xiaojuan Ou, Xiaojuan Ou, Jidong Jia, Jidong Jia, Jidong Jia   +28 more
doaj   +1 more source

HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study. [PDF]

PLoS ONE, 2018
OBJECTIVE:Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype.
Bastian Oppl, Emma Husar-Memmer, Svea Pfefferkorn, Martha Blank, Peter Zenz, Eva Gollob, Christian Wurnig, Alfred Engel, Andreas Stadlmayr, Gökhan Uyanik, Wolfgang Brozek, Klaus Klaushofer, Jochen Zwerina, Christian Datz   +13 more
doaj   +1 more source

Variable expressivity of HJV related hemochromatosis: “Juvenile” hemochromatosis?

, 2019
International audienceJuvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload ...
Detivaud, Lenaick, Aggoune, Samira, Pelletier, Gilles, Deugnier, Yves, David, Véronique, Ropert, Martine, Simon, Dominique, Bardou-Jacquet, Edouard, Ben Ali, Zeineb, Hamdi-Roze, Houda   +9 more
core   +1 more source

Single‐Breathhold 3D MR Elastography in the Liver, With Simultaneous R2* and PDFF Mapping

Magnetic Resonance in Medicine, EarlyView.
Purpose To develop a sequence for the rapid acquisition of MR elastography (MRE) parameters in 3D, with simultaneous measurement of proton‐density fat fraction (PDFF) and R2* for multiparametric assessment of liver disease. Methods The proposed sequence uses an interleaved motion‐encoding scheme to acquire 3D volumes of all motion encodings and wave ...
Donovan P Tripp, Anne‐Sophie van Schelt, Omar Darwish, Karl P Kunze, Shamsa Al Harthy, Nader S Metwalli, Ahmed M Gharib, Claudia Prieto, René M Botnar, Ralph Sinkus, Radhouene Neji   +10 more
wiley   +1 more source

Non-HFE Hemochromatosis

, 2011
With the identification of the HFE gene in 1996, the majority of cases of hereditary hemochromatosis (HH) or type 1 HH were found to be associated with homozygosity for a mutation leading to a cysteine to tyrosine substitution (C282Y) in the HFE protein.
Wallace, Daniel F., Subramaniam, V. Nathan, V. Nathan Subramaniam, Daniel F. Wallace   +3 more
core   +1 more source

Current Cell/Organoid and Animal Models for Primary Sclerosing Cholangitis

Portal Hypertension &Cirrhosis, EarlyView.
Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease with limited therapeutic options and a marked risk of progression to biliary fibrosis, cirrhosis, and malignancy. Progress in PSC research has been hindered by the lack of models that faithfully recapitulate the complex biliary microenvironment and disease heterogeneity ...
Qigu Yao, Sheng Cheng, Qiaoling Pan, Jiong Yu, Hongcui Cao   +4 more
wiley   +1 more source

Estudi de les mutacions dels exons 2 i 4 del gen HFE en pacients amb porfiria cutània tarda esporàdica [PDF]

, 2006
[cat] La Porfíria Cutània Tarda (PCT) és una malaltia metabòlica que afecta a la pell i al fetge i que és desencadenada per la interacció de múltiples factors que inclouen l´herència, l´alcohol, el VHC, els estrògens i alguns agents tòxics, entre d ...
Toll Abelló, Agustí
core  

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