Results 31 to 40 of about 1,759,912 (296)

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

open access: yesFEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile   +8 more
wiley   +1 more source

A Cross-sectional Study on the Pattern of Skull Fractures in Fatal Two-wheeler Road Traffic Accidents at a Tertiary Care Hospital in Northeastern India [PDF]

open access: yesJournal of Clinical and Diagnostic Research
Introduction: Death due to Road Traffic Accidents (RTA) is one of the leading causes of mortality and morbidity in a developing country like India. As there is a paucity of literature on the nature and type of injuries in RTAs in the locality of Upper ...
Nabajit Barman   +2 more
doaj   +1 more source

Causes of death in mucopolysaccharidoses

open access: yesMolecular Genetics and Metabolism
Mucopolysaccharidoses are inherited metabolic diseases caused by mutations in genes encoding enzymes required for degradation of glycosaminoglycans. A lack or severe impairment of activity of these enzymes cause accumulation of GAGs which is the primary biochemical defect.
Estera, Rintz   +4 more
openaire   +2 more sources

A working model for cytoplasmic assembly of H/ACA snoRNPs

open access: yesFEBS Letters, EarlyView.
Dyskerin is the component of nuclear H/ACA ribonucleoproteins (RNPs) endowed with pseudouridine synthase catalytic activity. Two isoforms of human dyskerin have been characterized: the abundant Iso1, mainly nuclear, and the shorter Iso3, mainly cytoplasmic but occasionally imported into nuclei.
Alberto Angrisani, Maria Furia
wiley   +1 more source

India and the problem of “needless autopsies”

open access: yesEgyptian Journal of Forensic Sciences, 2018
The primary aim of autopsy is to ascertain the cause of death. The autopsies performed worldwide are mostly medico-legal or clinical. In India, 'needless autopsies' are conducted widely causing waste of already limited resources.
Tanuj Kanchan   +3 more
doaj   +1 more source

C9orf72 ALS‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

open access: yesFEBS Letters, EarlyView.
Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican   +7 more
wiley   +1 more source

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

open access: yesFEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona   +4 more
wiley   +1 more source

Assessing the quality of medical death certification: a case study of concordance between national statistics and results from a medical record review in a regional hospital in the Philippines

open access: yesPopulation Health Metrics, 2018
Background Medical certificates of cause of death (MCCOD) issued by hospital physicians are a key input to vital registration systems. Deaths certified by hospital physicians have been implicitly considered to be of high quality, but recent evidence ...
Marilla Lucero   +7 more
doaj   +1 more source

Imeglimin attenuates liver fibrosis by inhibiting vesicular ATP release from hepatic stellate cells

open access: yesFEBS Letters, EarlyView.
Imeglimin, at clinically relevant concentrations, inhibits vesicular ATP accumulation and release from hepatic stellate cells, thereby attenuating purinergic signaling and reducing fibrogenic activation. This mechanism reveals a newly identified antifibrotic action of imeglimin beyond glycemic control.
Seiji Nomura   +8 more
wiley   +1 more source

Mortality risk and causes of death in patients with non-cystic fibrosis bronchiectasis

open access: yesRespiratory Research, 2019
Background All-cause mortality risk and causes of death in bronchiectasis patients have not been fully investigated. The aim of this study was to compare the mortality risk and causes of death between individuals with bronchiectasis and those without ...
Sooim Sin   +12 more
doaj   +1 more source

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