Results 211 to 220 of about 12,578,619 (347)
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
FracFixR: a compositional statistical framework for absolute proportion estimation between fractions in RNA sequencing data. [PDF]
Cleynen A, Ravindran A, Shirokikh NE.
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
Benchmarking Lysosome Enrichment Methods: A Guide for Research and Clinical Translation. [PDF]
de Jager AL +11 more
europepmc +1 more source
Change of Surviving Fractions based on the Recovery of Potentially Lethal Damage in HFL-I Cell Line
Eunae Choi
openalex +1 more source
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
Bioactive compound identification without fractionation: an Ocimum spp. case study. [PDF]
Abraham EJ +3 more
europepmc +1 more source

