Results 121 to 130 of about 198,942 (291)

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

Fatores precipitantes na porfiria cutânea tardia no Brasil com ênfase\ud nas mutações do gene (HFE) da hemocromatose. Estudo de 60 casos [PDF]

, 2013
BACKGROUND:\ud Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme.
Abrantes-Lemos, Clarice Pires, Cançado, Eduardo Luiz Rachid, Nakhle, Maria Cristina, Reis, Vitor Manoel Silva dos, Vieira, Fatima Mendonça Jorge   +4 more
core   +1 more source

Population-based analysis of the frequency of HFE gene polymorphisms: Correlation with the susceptibility to develop hereditary hemochromatosis

Molecular Medicine Reports, 2016
Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by increased dietary iron absorption. Due to the absence of an effective excretory mechanism, the excess iron in the body may accumulate resulting in toxic effects ...
Martha-Spyridoula Katsarou, Rosana Latsi, Maria Papasavva, N. Demertzis, T. Kalogridis, A. Tsatsakis, D. Spandidos, N. Drakoulis   +7 more
semanticscholar   +1 more source

Body Biofluids for Minimally‐Invasive Diagnostics: Insights, Challenges, Emerging Technologies, and Clinical Potential

Advanced Healthcare Materials, Volume 15, Issue 4, 26 January 2026.
Recent advances in diagnostics have accelerated the development of miniaturized wearable technologies for the continuous monitoring of diseases. This paradigm is shifting healthcare away from invasive, centralized blood tests toward decentralized monitoring, using alternative body biofluids.
Lanka Tata Rao, Chandan Kumar Mandal, Fernando Patolsky   +2 more
wiley   +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  

The effect of amino acid deprivation on the transfer of iron through Caco-2 cell monolayers [PDF]

, 2017
Funding Source Rural and Environmental Scientific and Analytical Services, the Scottish Government Acknowledgments We thank Dr Helen Hayes for her technical support during this project.
Cottin, Sarah, McArdle, Harry J., Roussel, Guenievre, Stevens, Valerie   +3 more
core   +3 more sources

A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts.

Internal medicine, 2016
Hereditary hemochromatosis (HH) is an inherited disorder usually seen in Northern Europeans, which results in iron overload syndrome. A few cases have also been reported in Japan.
N. Yamakawa, Kengo Oe, N. Yukawa, K. Murakami, R. Nakashima, Y. Imura, H. Yoshifuji, K. Ohmura, Y. Miura, N. Tomosugi, H. Kawabata, A. Takaori-Kondo, T. Mimori   +12 more
semanticscholar   +1 more source

Early Onset Heart Failure due to RBM20 Variant: A Case Report Emphasizing Genetic Diagnosis and Arrhythmic Risk Stratification

Clinical Case Reports, Volume 14, Issue 1, January 2026.
Transthoracic echocardiography demonstrating biventricular dilatation. Parasternal long‐ and short‐axis views and apical four‐ and two‐chamber views show marked left ventricular dilatation with increased end‐diastolic volume, associated with right ventricular dilatation.
Cristian Orlando Porras Bueno, Cesar Augusto Balaguera, Alejandro Mariño Correa, Edward Andrés Cáceres Méndez   +3 more
wiley   +1 more source

Earlier Menopause and Risk of Metabolic Dysfunction‐Associated Steatotic Liver Disease: A Global Cohort Study

Diabetes/Metabolism Research and Reviews, Volume 42, Issue 1, January 2026.
ABSTRACT Objectives Metabolic dysfunction‐associated steatotic liver disease (MASLD) is a growing public health concern that contributes to liver and cardiovascular complications. The prevalence of MASLD in women increases sharply around age 50 years, but the relationship between an earlier age at natural menopause and MASLD is unknown.
Joshua Stokar, Rivka Dresner‐Pollak
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