Results 271 to 280 of about 81,482 (329)

Angiogenic Potential of Small Extracellular Vesicles Produced by Stimulated Mesenchymal Stromal Cells Under Hypoxic Conditions

open access: yesJournal of Extracellular Biology, Volume 5, Issue 1, January 2026.
ABSTRACT Regenerative vascular medicine research has positioned mesenchymal stromal cells (MSCs) as a leading candidate to treat ischemic diseases. Recent studies have highlighted the emerging role of small extracellular vesicles (sEVs) produced by MSCs in their own potential.
Nada Serhal   +10 more
wiley   +1 more source

Von Willebrand factor and JAK2V617F variant allele frequency predict thrombosis and bleeding in patients with myeloproliferative neoplasms. [PDF]

open access: yesAnn Hematol
Gat A   +8 more
europepmc   +1 more source

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen   +3 more
wiley   +1 more source

Bernard‐Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study identifies a new mutation of the GP1BB gene responsible for Bernard‐Soulier syndrome in a Mauritanian patient. Genetic analysis reveals a nucleotide duplication resulting in a severe platelet adhesion defect. This work highlights the importance of molecular diagnosis and therapeutic strategies to improve the management of affected patients ...
Mohamed Lemine Salem   +2 more
wiley   +1 more source

[Diffuse large B-cell lymphoma with acquired von Willebrand syndrome: a case report and literature review]. [PDF]

open access: yesZhonghua Xue Ye Xue Za Zhi
Wang FD   +6 more
europepmc   +1 more source

Exploration of the Pathogenic Mechanism of the Factor XIII A Subunit in a Patient With Congenital Factor XIII Deficiency

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study identifies a novel Ser414Leu variant in the F13A1 gene associated with congenital FXIII deficiency, demonstrating its potential to destabilize the protein structure. ABSTRACT Background Congenital factor XIII (FXIII) deficiency is an extremely rare autosomal recessive blood clotting disorder with an incidence of approximately one in two ...
Min Wang   +8 more
wiley   +1 more source

Assessing the relation between protein phosphorylation, AlphaFold3 models, and conformational variability

open access: yesProtein Science, Volume 35, Issue 1, January 2026.
Abstract Proteins perform diverse functions critical to cellular processes. Transitions between functional states are often regulated by post‐translational modifications (PTMs) such as phosphorylation, which dynamically influence protein structure, function, folding, and interactions.
Pathmanaban Ramasamy   +3 more
wiley   +1 more source

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