Results 181 to 190 of about 278,687 (359)

Control of Postnatal Apoptosis in the Neocortex byRhoA-Subfamily GTPases Determines Neuronal Density [PDF]

open access: bronze, 2010
Hitomi Sanno   +9 more
openalex   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

Chronic high‐fat diet induces multi‐organ dysfunction and metabolic homeostasis disruption in Macaca fascicularis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
An 18‐month HFD successfully established a translational Macaca fascicularis model replicating key metabolic disorders (MASH, diabetes, cardiac hypertrophy). MASH was determined by liver biopsy histology, the presence steatosis, inflammatory infiltration, hepatocytic ballooning, and fibrosis were considered as MASH; diabetes was diagnosed according to ...
Hongyi Chen   +12 more
wiley   +1 more source

Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and HLA‐DRB1*1501 Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset

open access: yesAnnals of Neurology, EarlyView.
Objectives Multiple sclerosis (MS) onset risk factors include Epstein–Barr virus (EBV) indices (including host response), lower serum 25‐vitamin D (25(OH)D) levels, low sun exposure, and HLA‐DRB1*1501. The underlying molecular mechanisms are unclear. Here, we examined mediation through differential DNA methylation (DNAm) to better understand possible ...
Steve Simpson‐Yap   +37 more
wiley   +1 more source

Conformational control of small GTPases by AMPylation [PDF]

open access: bronze, 2020
Katja Barthelmes   +4 more
openalex   +1 more source

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