Results 101 to 110 of about 29,567 (256)

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

European Journal of Haematology, EarlyView.
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson, Yanwei Cai, Ana Gabriela Vasconcelos, Peter Orchard, Paul L. Auer, Guillaume Lettre, Jia Wen, Nora Franceschini, Charles Kooperberg, Wei Sun, Li Hsu, Laura M. Raffield, Alex P. Reiner   +12 more
wiley   +1 more source

Finely-tuned regulation of AMP-activated protein kinase is crucial for human adult erythropoiesis

Haematologica, 2019
AMP-activated protein kinase (AMPK) is a heterotrimeric complex containing α, β, and γ subunits involved in maintaining integrity and survival of murine red blood cells.
Meriem Ladli, Cyrielle Richard, Lilia Cantero Aguilar, Sarah Ducamp, Sabrina Bondu, Pierre Sujobert, Jérôme Tamburini, Catherine Lacombe, Nabih Azar, Marc Foretz, Yael Zermati, Patrick Mayeux, Benoit Viollet, Frédérique Verdier   +13 more
doaj   +1 more source

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts

Haematologica, 2016
Ankyrin-R provides a key link between band 3 and the spectrin cytoskeleton that helps to maintain the highly specialized erythrocyte biconcave shape.
T. Satchwell, A. J. Bell, Bethan R. Hawley, S. Pellegrin, Kathryn E Mordue, C. V. van Deursen, Nicole Heitink-ter Braak, G. Huls, M. Leers, E. Overwater, R. Tamminga, B. van der Zwaag, E. Fermo, P. Bianchi, R. van Wijk, A. Toye   +15 more
semanticscholar   +1 more source

Studies on the DNA metabolism of erythroid cell. I. DNA level of erythroblastic nuclei of rabbit bone marrow, observation of normal, blood depleted, and phenylhydrazine anemias, and their recovery by red cell transfusion [PDF]

, 1970
For the purpose to reveal the changes in the metabolism of erythroblast in varied specialization stages the author observed the Feulgen DNA level of rabbit erythroblasts by microspectrophotometry.
Inoue, Masanao
core   +1 more source

Anemia‐associated mutations disrupt the CDIN1‐Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA‐I) disease

The FEBS Journal, EarlyView.
Congenital dyserythropoietic anemia type I (CDA‐I) arises from mutations in Codanin1 and CDIN1. Using quantitative biophysical approaches, we show that disease‐associated mutations disrupt the CDIN1‐Codanin1 complex. Our findings provide critical insights into the molecular mechanism that links protein dysfunction to disturbing chromatin arrangement ...
Martin Stojaspal, Tomas Brom, Ivona Nečasová, Tomáš Janovič, Pavel Veverka, Naina Verma, Lukáš Uhrík, Lenka Hernychova, Ctirad Hofr   +8 more
wiley   +1 more source

MIF contributes to Trypanosoma brucei associated immunopathogenicity development [PDF]

, 2014
African trypanosomiasis is a chronic debilitating disease affecting the health and economic well-being of many people in developing countries. The pathogenicity associated with this disease involves a persistent inflammatory response, whereby M1-type ...
Beschin, Alain, Brys, Lea, Bucala, Richard, Caljon, Guy, De Baetselier, Patrick, Leng, Lin, Raes, Geert, Sparkes, Amanda, Stijlemans, Benoit, Van Den Abbeele, Jan, Van Ginderachter, Jo A, Vansintjan, Liese   +11 more
core   +4 more sources

Pediatric autologous peripheral blood stem cell collection without heparin using a highly concentrated sodium citrate anticoagulant: A retrospective comparison with standard ACD‐A

Transfusion, EarlyView.
Abstract Background Heparin combined with sodium citrate has been used in leukocytapheresis for pediatric patients. Since 2022, we have performed leukocytapheresis using a highly concentrated sodium citrate solution (HSC, 5.32%) instead of acid citrate dextrose solution A (ACD‐A).
Keiko Fujii, Wataru Kitamura, Kana Washio, Kazuhiro Ikeuchi, Joji Shimono, Hiroyuki Murakami, Fumio Otsuka, Yoshinobu Maeda, Nobuharu Fujii   +8 more
wiley   +1 more source

A study on the nuclear extrusion of mammalian erythroblast [PDF]

, 1975
A study was carried out to clarify the mechanism of nuclear extrusion of mammalian erythroid cells by observing erythroblasts of rabbit under various conditions in vitro.
Mori, Masaharu
core   +1 more source

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report a female infant with cardiofaciocutaneous syndrome type 4 (CFC4), an ultra‐rare RASopathy caused by a heterozygous MAP2K2 (c.619G>A, p.Glu207Lys) variant. From birth, she presented with neonatal hypotonia, respiratory distress, and feeding dysfunction characterized by absent sucking reflex, orofacial hypotonia, and sensory ...
Aleksandra Świeca, Małgorzata Rydzanicz, Rafal Ploski, Krzysztof Szczałuba   +3 more
wiley   +1 more source

Blood Relatives: Splicing Mechanisms underlying Erythropoiesis in Health and Disease [version 1; referees: 3 approved]

F1000Research, 2018
During erythropoiesis, hematopoietic stem and progenitor cells transition to erythroblasts en route to terminal differentiation into enucleated red blood cells.
Kirsten A. Reimer, Karla M. Neugebauer
doaj   +1 more source