Results 51 to 60 of about 735,284 (303)

Survey of changes in subjective symptoms among Japanese polio survivors over 10 years

open access: yesJournal of Rehabilitation Medicine
Objective: To define long-term changes in subjective symptoms among polio survivors in Japan. Design: Prospective cohort study. Patients: Sixty-five polio survivors.
Fumi Toda   +6 more
doaj   +1 more source

Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]

open access: yes, 2008
Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
core   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

open access: yesFEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

A case report of Parry Romberg Syndrome initially presenting as periodontitis [PDF]

open access: yes, 2018
Parry Romberg Syndrome (PRS) is a rare disorder of progressive hemifacial atrophy, involving soft tissues, fat and occasionally bone. It can co-exist with presentations of Morphea.
Bramley   +14 more
core   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

open access: yesFEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

The commonly used antibiotic streptomycin reduces protein synthesis and differentiation in cultured C2C12 myotubes

open access: yesPhysiological Reports
The antibiotic streptomycin is an integral part of cell culture medium. Because streptomycin inhibits bacterial protein synthesis, streptomycin might also have off‐target effects on muscle cell function.
Chuqi He   +7 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

open access: yes, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F   +14 more
core   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

open access: yesFEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas   +3 more
wiley   +1 more source

Features of cytokine balance in patients with precancerous gastric lesions depending on the changes in the structure of the thyroid gland

open access: yesGastroenterologìa, 2020
Background. The study of the cytokine balance is important due to searching the general links of the pathogenesis of comorbidity in precancerous gastric lesions and thyroid diseases.
L.M. Mosiychuk   +4 more
doaj   +1 more source

Up- and Downregulated Genes after Long-Term Muscle Atrophy Induced by Denervation in Mice Detected Using RNA-Seq

open access: yesLife, 2023
Skeletal muscle atrophy occurs rapidly as a result of inactivity. Although there are many reports on changes in gene expression during the early phase of muscle atrophy, the patterns of up-and downregulated gene expression after long-term and ...
Shoko Sawano   +6 more
doaj   +1 more source

Home - About - Disclaimer - Privacy