Results 211 to 220 of about 134,882 (291)

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

open access: yesClinical Genetics, EarlyView.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad   +20 more
wiley   +1 more source

Key drivers of at‐vessel mortality in demersal sharks

open access: yesConservation Biology, EarlyView.
Abstract Chondrichthyans are highly vulnerable to fisheries overexploitation, and postcapture mortality poses a significant threat to most species. Global bycatch mitigation guidelines recommend adopting hierarchical decision‐making approaches tailored to species‐specific vulnerabilities and socioeconomic and regulatory contexts.
David Ruiz‐García   +3 more
wiley   +1 more source

Lactate and Lactylation in AKI‐to‐CKD: Epigenetic Regulation and Therapeutic Opportunities

open access: yesCell Proliferation, EarlyView.
ABSTRACT Lactate is not only a byproduct of glycolysis, but is also considered an energy source, gluconeogenic precursor, signalling molecule and protein modifier during the process of cellular metabolism. The discovery of lactylation reveals the multifaceted functions of lactate in cellular metabolism and opens new avenues for lactate‐related research.
Yi Hou   +7 more
wiley   +1 more source

An unusual case of neuroblastoma presenting with prolonged watery diarrhea in a pediatric patient. [PDF]

open access: yesBiochem Med (Zagreb)
Claeyssens C   +5 more
europepmc   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance
Ana Alarcón   +33 more
wiley   +1 more source

Home - About - Disclaimer - Privacy