Results 81 to 90 of about 17,123 (223)

Novel mutation in addition to functional TMPRSS6 gene polymorphisms originate an IRIDA-like phenotype in an African child [PDF]

, 2019
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. The disease originates from mutations in TMPRSS6 gene, encoding Matriptase 2,
Batalha, Sara, Faleiro, Bárbara D., Faustino, Paula, Lavinha, João, Machado, Miguel P., Maia, Raquel, Mendonça, Joana, Vieira, Luís   +7 more
core  

Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

Journal of Clinical Laboratory Analysis, EarlyView.
Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou, Ting Chen, Ying Huang, Huali Wang, Dahai He, Feng Wu, Yan Zhang, Lirui Kong   +7 more
wiley   +1 more source

Human mutation D157G in ferroportin leads to hepcidin-independent binding of Jak2 and ferroportin down-regulation

Blood, 2010
Abstract Mutations in the iron exporter ferroportin (Fpn) result in iron overload in macrophages or hepatocytes depending upon the mutation. Patients with Fpn mutation D157G show high serum ferritin and normal to slightly elevated transferrin saturation.
Ivana, De Domenico, Eric, Lo, Diane M, Ward, Jerry, Kaplan   +3 more
openaire   +3 more sources

Membrane Transporters Involved in Iron Trafficking: Physiological and Pathological Aspects

Biomolecules, 2023
Iron is an essential transition metal for its involvement in several crucial biological functions, the most notable being oxygen storage and transport. Due to its high reactivity and potential toxicity, intracellular and extracellular iron levels must be
Andrea Pasquadibisceglie, Maria Carmela Bonaccorsi di Patti, Giovanni Musci, Fabio Polticelli   +3 more
doaj   +1 more source

Endoplasmic reticulum stress and the unfolded protein response in lung diseases: molecular pathways and therapeutic interventions

The Journal of Pathology, EarlyView.
Abstract Endoplasmic reticulum stress (ERS) occurs when the protein‐folding capacity of the endoplasmic reticulum (ER) is overwhelmed, triggering the unfolded protein response (UPR) to restore homeostasis. However, severe or persistent ERS can shift the UPR toward pro‐inflammatory, apoptotic, and fibrotic signaling, thereby exacerbating tissue injury ...
Lanlan Song, Yichen Liu, Chen Xu, Yaochen Zhang, Kaiming Xu, Dan Yao, Xiaoying Huang   +6 more
wiley   +1 more source

Iron Metabolism of the Skin: Recycling versus Release

Metabolites, 2023
The skin protects the body against exogenous stressors. Its function is partially achieved by the permanent regeneration of the epidermis, which requires high metabolic activity and the shedding of superficial cells, leading to the loss of metabolites ...
Marta Surbek, Supawadee Sukseree, Leopold Eckhart   +2 more
doaj   +1 more source

Hepatic heparan sulfate is a master regulator of hepcidin expression and iron homeostasis in human hepatocytes and mice. [PDF]

, 2019
Hepcidin is a liver-derived peptide hormone that controls systemic iron homeostasis. Its expression is regulated by the bone morphogenetic protein 6 (BMP6)/SMAD1/5/8 pathway and by the proinflammatory cytokine interleukin 6 (IL6).
Anower-E-Khuda, Ferdous, Arosio, Paolo, Asperti, Michela, Denardo, Andrea, Esko, Jeffrey D, Gordts, Philip LSM, Gryzik, Magdalena, Poli, Maura, Ruzzenenti, Paola   +8 more
core  

Local iron homeostasis in the breast ductal carcinoma microenvironment [PDF]

, 2016
BACKGROUND: While the deregulation of iron homeostasis in breast epithelial cells is acknowledged, iron-related alterations in stromal inflammatory cells from the tumor microenvironment have not been explored.
A Mantovani, AA Alkhateeb, AC Vargas, Alexandra Rêma, Arnaud Cruz Paula, B Manger, B Ruffell, BA Diwan, Berta Martins da Silva, C Delaby, Carlos Lopes, D Hrabinski, DG DeNardo, DM Paulnock, DR Richardson, DY Shin, Fátima Faria, G Corna, G Dranoff, Graça Porto, HJ Thompson, HY Dong, J Arezes, J Folkman, JP Pinto, JW Pollard, JW Pollard, K Pietras, KJ Britten, L Tesfay, LD Miller, M Sharma, M Singh, M Sousa de, M Sousa de, M Taylor, Maria Gomez-Lazaro, MD Knutson, MF Macedo, MH Dorner, MJ Bissell, ML Wallander, MS Pollack, NC Andrews, Oriana Marques, P Jezequel, Paula Silva, RL Elliott, S Recalcati, S Zhang, SB Coffelt, SI Shpyleva, SMA Mahmoud, SZ Liu, TF Gajewski, W Wang, X Huang, XJ Ma, Y Chen, Y Cui, Y Zhang, ZK Pinnix   +61 more
core   +3 more sources

Iron Physiology and Its Impact on Atopic Diseases: An EAACI Taskforce Report

Allergy, EarlyView.
ABSTRACT Iron is essential for oxygen transport, energy metabolism, and immune regulation. Yet iron deficiency is the most common micronutrient disorder across all age groups, affecting nearly one quarter of the global population. Iron deficiency triggers nutritional immunity, a host defense mechanism that withholds and redistributes iron, contributing
Franziska Roth‐Walter, Ioana Agache, Beatriz Cabanillas, Roberto Berni Canani, Pasquale Comberiati, Holger Garn, Cristina Gomez‐Casado, Karin Hufnagl, Ekaterina Khaleva, Gregorio P. Milani, Daniel Munblit, Nikolaos Douladiris, Liam O'Mahony, Frank Redegeld, Carmen Riggioni, Peter K. Smith, Betty van Esch, Emilia Vassilopoulou, Carina Venter, Diego G. Peroni   +19 more
wiley   +1 more source

Studies of Slc30a10 Deficiency in Mice Reveal That Intestinal Iron Transporters Dmt1 and Ferroportin Transport ManganeseSummary

Cellular and Molecular Gastroenterology and Hepatology
Background & Aims: SLC11A2 (DMT1) and SLC40A1 (ferroportin) are essential for dietary iron absorption, but their role in manganese transport is debated.
Milankumar Prajapati, Jared Z. Zhang, Grace S. Chong, Lauren Chiu, Courtney J. Mercadante, Heather L. Kowalski, Olga Antipova, Barry Lai, Martina Ralle, Brian P. Jackson, Tracy Punshon, Shuling Guo, Mariam Aghajan, Thomas B. Bartnikas   +13 more
doaj   +1 more source