Results 101 to 110 of about 198,942 (291)

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  

Prevalence and risk factors for metabolic dysfunction–associated steatotic liver disease in Sweden: Insights from the SCAPIS cohort

Journal of Internal Medicine, EarlyView.
Abstract Background and Aims Metabolic dysfunction–associated steatotic liver disease (MASLD) is the most common chronic liver disease globally, but its prevalence and severity remain poorly characterized in the general population. Our aim was to estimate the prevalence of MASLD and the risk of advanced fibrosis in a large Swedish general population ...
Oumarou Nabi, Jonas Spaak, Göran Bergström, Gunnar Engström, Carl Johan Östgren, Andrei Malinovschi, Joel Kullberg, Anders Blomberg, Tomas Jernberg, Daniel P. Andersson, Hannes Hagström   +10 more
wiley   +1 more source

Genetic variants underlying precancerous conditions of hepatocellular carcinoma

International Journal of Cancer, Volume 158, Issue 3, Page 488-502, 1 February 2026.
Abstract Hepatocellular carcinoma (HCC) is the most common form of liver cancer, accounting for 80% of cases worldwide. While chronic hepatitis B and C infections remain primary risk factors, emerging evidence highlights the increasing contributions of metabolic dysfunction‐associated steatotic liver disease (MASLD) and alcohol‐associated liver disease
Jonathan Jaime G. Guerrero, Paolo C. Encarnacion, Mark Angelo S. del Rosario, Matthew Aldren S. Ora, Jiayan Zhou, Kin Israel Notarte, Wan‐Chun Li, Ching‐Wen Chang   +7 more
wiley   +1 more source

Juvenile Hereditary Hemochromatosis: A Case Report [PDF]

Documenta Haematologica
Introduction: Hereditary hemochromatosis is an inherited condition where an excess of iron is absorbed from the diet, causing its accumulation in vital organs and subsequent organ damage.
Chhavi GOYAL, Omkar Kalidasrao CHOUDHARI, Disha SATYA, Priyanka SONI, Naveen GUPTA, Rajeev KASLIWAL, Rajat BHARGVA, Paresh SUKHANI, Hemant MALHOTRA   +8 more
doaj   +1 more source

Infectious Mononucleosis Causing Acute Liver Failure and Hemolytic Anemia in a Patient with Underlying Hereditary Hemochromatosis

Case Reports in Oncology, 2020
Infectious mononucleosis is a largely benign disease process that occurs secondary to infection with the Epstein-Barr virus. However, it can also present with more serious complications, including auto-immune hemolytic anemia and acute liver failure ...
Mark Forsberg, Mark Galan, Joshua Kra
doaj   +1 more source

Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene [PDF]

, 2014
In this paper we described the first Polish patient with ferroportin disease. Hereditary haemochromatosis (HH) is a condition associated with universal iron overload, and it is divided into four types, according to the Online Mendelian Inheritance in Man
Caleffi, Angela, Milkiewicz, Piotr, PIETRANGELO, Antonello, Raszeja Wyszomirska, Joanna   +3 more
core   +1 more source

Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene

Medicine, 2017
Rationale: Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific ...
Wei Zhang, Tingxia Lv, Jian Huang, X. Ou
semanticscholar   +1 more source

Mitochondrial Transporter ABCB10 Protects Against Doxorubicin‐Induced Respiratory Muscle Dysfunction Independent of Changes to Diaphragm Accumulation

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Doxorubicin (DOX) is a highly effective chemotherapeutic agent whose use can cause respiratory toxicity, increasing patient fatigue and negatively impacting quality of life and survival. These adverse effects occur due to diaphragm muscle mitochondrial accumulation of DOX, where it causes reactive oxygen species production and iron ...
Ashley J. Smuder, Vivian Doerr, Cesar E. Jacintho Moritz, Jie Li, Branden L. Nguyen   +4 more
wiley   +1 more source

Hereditary Hemochromatosis: Genetics, Pathogenesis, and Clinical Management

Annals of Hepatology, 2005
Recent findings have led to major advances in our understanding of genetics and pathophysiology of hereditary hemochromatosis. Many crucial genes and molecules have come to light, and the complex interrelationships between them are being studied. However,
Jacob Alexander, Kris V. Kowdley
doaj   +1 more source

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non‐C282Y iron overload: identification of a novel TfR2 mutation [PDF]

, 2002
Blood. 2002 Aug 1;100(3):1075-7. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
BUSKARD, N., BUTTERFIELD, Y., DE SOUSA, M., HUNTSMAN, D., JONES, S., LANGLOIS, S., LOCKITCH, G., MARRA, M., MATTMAN, A., PORTO, G., RALSTON, D., RODRIGUES, P., VATCHER, G.   +12 more
core   +1 more source