Results 71 to 80 of about 47,935 (263)

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

Iron overload and immunity [PDF]

, 2007
World J Gastroenterol. 2007 Sep 21;13(35):4707-15. Iron overload and immunity. Porto G, De Sousa M. Institute of Molecular and Cellular Biology, Rua do Campo Alegre, Porto 8234150, Portugal.
De Sousa, M., Porto, G.
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

Hemojuvelin-Neogenin Interaction Is Required for Bone Morphogenic Protein-4-induced Hepcidin Expression [PDF]

, 2009
Hemojuvelin (HJV) is a glycosylphosphatidylinositol-linked protein and binds both bone morphogenic proteins (BMPs) and neogenin. Cellular HJV acts as a BMP co-receptor to enhance the transcription of hepcidin, a key iron regulatory hormone secreted ...
An-Sheng Zhang, Andriopoulos, Babitt, Babitt, Babitt, Camaschella, Caroline A. Enns, Conrad, Davies, De Domenico, De Gobbi, Du, Fan Yang, Feng, Feng, Finberg, Frazer, Goldschneider, Hentze, Hidekazu Tsukamoto, Huang, Jiaohong Wang, Kautz, Kuns-Hashimoto, Lin, Lin, Luxon, Matsunaga, Matsunaga, Maxson, Meynard, Niederkofler, Papanikolaou, Pigeon, Samad, Schaffar, Silvestri, Wang, Xia, Xia, Yang, Zhang, Zhang, Zhang, Zhang   +44 more
core   +4 more sources

Hereditary hemochromatosis

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006
▪ Abstract  In recent years, the number of proteins implicated in iron homeostasis has increased dramatically, and genetic causes have apparently been identified for the major disorders associated with tissue iron overload. These dramatic steps forward have transformed the way we look at iron-related disorders, particularly hemochromatosis.
openaire   +4 more sources

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

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron. [PDF]

, 2005
Blood. 2005 Oct 15;106(8):2922-3. A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron.
Almeida, S., Bacelar, C., Camaschella, C., Daraio, F., Ganz, T., Nemeth, E., Pinto, J., Porto, G., Roetto, A.   +8 more
core   +1 more source

Iron overload in hereditary spherocytosis: Are genetic factors the cause?

British Journal of Haematology, EarlyView.
Summary Non‐transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next‐generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association ...
Lucie Donaty, Muriel Giansily‐Blaizot, Ivan Bertchansky, Séverine Cunat, Vincent Azoury, Perrine Mahe, Patricia Aguilar Martinez   +6 more
wiley   +1 more source

Non-HFE haemochromatosis [PDF]

, 2007
Non-HFE hereditary haemochromatosis (HH) refers to a genetically heterogeneous group of iron overload disorders that are unlinked to mutations in the HFE gene.
Subramaniam, V. Nathan, Wallace, Daniel F.   +1 more
core   +2 more sources