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
Balancing inflammation and regeneration: immune cell dynamics in nerve repair: a comprehensive review. [PDF]
Anjum A, Lokanathan Y.
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
Enhancing soybean (<i>Glycine max</i> L.) yield and quality through optimized weed-free periods and sowing techniques. [PDF]
Arshad MA +8 more
europepmc +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Transcriptional Modulation in Grapevine by a Biostimulant Treatment for Improved Plant Resilience to Stress Events. [PDF]
Mostacci A +5 more
europepmc +1 more source
Serum Soluble Mediator Signatures of Lupus Nephritis: Histologic Features and Response to Treatment
Objective Lupus nephritis (LN) management remains challenging, and novel noninvasive biomarkers are needed. This study quantified serum soluble mediators in the Accelerating Medicines Partnership (AMP) LN cohort to identify biomarkers of histologic features and treatment response.
Andrea Fava +48 more
wiley +1 more source
Isolation methods influence the biological properties of Wharton's Jelly-derived mesenchymal stem cells: A comparative study of yield, viability, proliferation, differentiation potential, and proteomic profiles. [PDF]
Nguyen JL +5 more
europepmc +1 more source
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Maternal Bacillus probiotic regulates offspring growth and immunity via spleen IGF-1/mTOR and FOXO1/IL-10 pathways. [PDF]
Aldayel TS +6 more
europepmc +1 more source

