Results 101 to 110 of about 47,935 (263)

Non- HFE hemochromatosis [PDF]

Hepatology, 2004
The term "non-HFE hemochromatosis" (non-HFE HC) refers to several phenotypically similar but genetically distinct forms of hereditary hemochromatosis affecting individuals without pathogenic mutations of HFE. The involved genes are, sinsu strictu, transferrin receptor 2 (TfR2), hemojuvelin (HJV), and hepcidin (HAMP).
openaire   +5 more sources

Fat‐Corrected Non‐Gaussian Diffusion MRI for Liver Fibrosis Assessment in Metabolic Dysfunction‐Associated Steatotic Liver Disease

Journal of Magnetic Resonance Imaging, Volume 63, Issue 2, Page 497-507, February 2026.
ABSTRACT Background In patients with metabolic dysfunction‐associated steatotic liver disease (MASLD), non‐Gaussian diffusion—weighted imaging (DWI) has been proposed for the diagnosis of liver fibrosis, but its measurement is partially confounded by steatosis.
Omaïma Saïd, Sabrina Doblas, Valérie Paradis, Pierre Bedossa, Dominique Valla, Cédric Laouénan, Laurent Castera, Bernard E. Van Beers, Philippe Garteiser   +8 more
wiley   +1 more source

Prediction of Hepatocellular Carcinoma and Other Liver‐Related Events in Chronic Hepatitis B Patients With Metabolic Dysfunction or Metabolic Dysfunction‐Associated Steatotic Liver Disease

Alimentary Pharmacology &Therapeutics, Volume 63, Issue 3, Page 374-382, February 2026.
This study evaluated the performance of the PAGE‐B score in HCC risk among CHB patients with metabolic dysfunction or MASLD. The PAGE‐B score effectively stratified HCC risk in both MASLD and non‐MASLD patients, especially in those without cirrhosis, where low scores were linked to negligible 5‐year HCC risk. ABSTRACT Introduction Metabolic dysfunction
Lesley A. Patmore, Ivana Carey, Jordan J. Feld, Willem P. Brouwer, Keyur Patel, Maria Buti, Pieter Honkoop, Douwe F. Postma, Hans Blokzijl, Özgur. M. Koc, Eva van Oorschot, Kosh Agarwal, Marc van der Valk, Faydra I. Lieveld, Mai Kilany, Matthijs Kramer, Joep de Bruijne, Mark A. A. Claassen, Bettina E. Hansen, Robert A. de Man, Harry L. A. Janssen, R. Bart Takkenberg, Milan J. Sonneveld   +22 more
wiley   +1 more source

Anemia with jaundice: An unusual cause

Medical Journal of Dr. D.Y. Patil University, 2015
Anemia and jaundice are two important clinical signs in medicine. Occurrence of these two signs together in a patient suggests hemolytic disorders. Hemochromatosis is a disease characterized by hyperpigmentation, arthralgia and diabetes.
K. V. S. Hari Kumar, A K Gupta
doaj   +1 more source

Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells [PDF]

, 2005
Type 2 hereditary hemochromatosis (HH) or juvenile hemochromatosis is an early onset, genetically heterogeneous, autosomal recessive disorder of iron overload.
Bjorkman, Pamela J., Enns, Caroline A., West, Anthony P., Jr., Wyman, Anne E., Zhang, An-Sheng   +4 more
core   +1 more source

Non‐Response to Obeticholic Acid Is Associated With Heightened Risks of Developing Clinical Events in Primary Biliary Cholangitis

Alimentary Pharmacology &Therapeutics, Volume 63, Issue 4, Page 494-506, February 2026.
In a multi‐centre study of obeticholic acid in primary biliary cholangitis, 45% discontinued the drug over 4 years, with 11% moving to combination therapy (fibrates). Of those continuing, response rates increased from 37% (1 year) to 55% (4 years). Non‐response at 12 months and cirrhosis were independent predictors of liver‐related events.
Nadir Abbas, Rachel Smith, Ellina Lytvyak, Miki Scaravaglio, Neil Halliday, Amal Almahroos, Nadia Eden, Diane Lloyd‐Madden, Sanchit Sharma, James Ferguson, Jessica K. Dyson, Douglas Thorburn, David Jones, Aldo J. Montano‐Loza, Marco Carbone, Pietro Invernizzi, George Mells, Emma L. Culver, Palak J. Trivedi   +18 more
wiley   +1 more source

Overexpression of Transferrin Receptor in Esophageal Squamous Cell Cancer Suggests Poor Prognosis and Potential Therapy

Cancer Science, Volume 117, Issue 2, Page 393-406, February 2026.
This study aimed to evaluate transferrin receptor (TfR) expression in human esophageal squamous cell cancer (ESCC) specimens and investigate the correlation between TfR overexpression and clinicopathological characteristics. Furthermore, we explored the potential of targeting iron metabolism pathways as a novel therapeutic strategy for ESCC.
Naoki Ikenaga, Tsuyoshi Takahashi, Koji Tanaka, Satoshi Serada, Minoru Fujimoto, Kota Momose, Kotaro Yamashita, Tomoki Makino, Takuro Saito, Kazuyoshi Yamamoto, Yukinori Kurokawa, Kiyokazu Nakajima, Tomomi Fujii, Eiichi Morii, Tetsuji Naka, Hidetoshi Eguchi, Yuichiro Doki   +16 more
wiley   +1 more source

Rare autosomal dominant hereditary hemochromatosis associated with SLC40A1 gene: ferroportin disease or type 4 hereditary hemochromatosis? [PDF]

, 2019
Ferroportin (FPN1), encoded by the SLC40A1 gene, is the unique cellular iron exporter identified in mammals. FPN1 transfers iron from the intestine and macrophages into the bloodstream. This function is negatively regulated by hepcidin.
Faustino, Paula, Fleming, Rita, Lavinha, João, Machado, Miguel P., Mendonça, Joana, Simão, Rita, Tavares, Wilson, Vieira, Luís   +7 more
core  

HFE variants and the expression of iron-related proteins in breast cancer-associated lymphocytes and macrophages [PDF]

, 2016
Disponível em: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264664/The association of HFE (High Iron FE) major variants with breast cancer risk and behavior has been a matter of discussion for a long time. However, their impact on the expression of iron-
A Waheed, A Waheed, A Walsh, Alexandra Rêma, Ana Rosa, B Halliwell, B Manger, Berta Martins da Silva, BK Abraham, Carlos Lopes, DB Kell, DM Paulnock, E Nemeth, E Nemeth, F D’Alessio, G Porto, Graça Porto, HJH Fenton, J Waalen, JA Lebron, JL Babitt, JL Babitt, JN Feder, JN Feder, JN Feder, JW Eaton, K Miyazono, Luciana Leite, M Kelley, M Vujic Spasic, NC Andrews, O Marques, O Marques, Oriana Marques, P Aguilar-Martinez, Paula Faustino, PJ Schmidt, S Duijn van, SG Gray, SY Lee, SY Lee, T Ganz, T Goswami   +42 more
core   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source