Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Investigation of variables affecting the immunogenicity of blood group antigens using a calculation formula. [PDF]
Chung Y +5 more
europepmc +1 more source
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
Assessment of erythrocyte alloimmunization among patients treated at a Brazilian university hospital
Introduction: Alloimmunization and transfusion reactions underscore the crucial role of precise immunohematological techniques to enhance safety in transfusion.
Higor Silva Contelli +7 more
doaj +1 more source
The frequency of ABO and Rhesus(D) blood group antigens among blood transfused patients in Northern Ethiopia, 2023: Retrospective study. [PDF]
Berhan A +6 more
europepmc +1 more source
Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis
ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz +9 more
wiley +1 more source
Norovirus Recognition Sites on Histo-blood Group Antigens
Haruko eShirato
doaj +1 more source
Cloning, Expression, and Functional Characterization of FUT1, a Key Gene for Histo-Blood Group Antigens Synthesis in Crassostrea gigas. [PDF]
Gui B +6 more
europepmc +1 more source
[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich +19 more
wiley +1 more source
Impact of ABO blood group antigens on residual factor VIII levels and risk of inhibitor development in hemophilia A. [PDF]
Ray D +9 more
europepmc +1 more source

