Results 91 to 100 of about 2,355,082 (334)
FEBS Letters, EarlyView.The Arabidopsis mutants hls1 hlh1 and amp1 lamp1 exhibit pleiotropic developmental phenotypes. Although the functions of the causative genes remain unclear, they act in the same genetic pathway and are thought to generate non‐cell‐autonomous signals.
Takashi Nobusawa, Makoto Kusaba
wiley +1 more source
Quality in SportGaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which encodes the enzyme glucocerebrosidase.
Alicja Kotula +8 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 The mechanism of occurrence and rupture of intracranial aneurysm is complex and may involve various environmental and genetic factors. Histopathological studies of intracranial aneurysm suggest a possible relationship between intracranial aneurysm and ...
CHEN Rui⁃qi, GUO Rui, YOU Chao
doaj
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]
, 2008 We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu +4 more
core +1 more source
Genetics of common polygenic ischaemic stroke: current understanding and future challenges. [PDF]
, 2011 Stroke is the third commonest cause of death and the major cause of adult neurological disability worldwide. While much is known about conventional risk factors such as hypertension, diabetes and incidence of smoking, these environmental factors only ...
Bevan, S, Markus, HS
core +3 more sources
FEBS 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
Journal of Education and Health PromotionBACKGROUND: A newborn with an untreatable genetic disorder could disrupt a family and affect parents’ mental health, psycho-social interaction, and parent–child relationships.
Marzyeh Kermanian +3 more
doaj +1 more source
Microbial exopolysaccharide production by polyextremophiles in the adaptation to multiple extremes
FEBS Letters, EarlyView.Polyextremophiles are microorganisms that endure multiple extreme conditions by various adaptation strategies that also include the production of exopolysaccharides (EPSs). This review provides an integrated perspective on EPS biosynthesis, function, and regulation in these organisms, emphasizing their critical role in survival and highlighting their ...
Tracey M Gloster, Ebru Toksoy Öner
wiley +1 more source
FEBS Letters, EarlyView.Nicotinamide (NIC) and nicotinic acid (NIA) are proposed as stress signaling compounds in plants. Oxidative stress may lead to single strand breaks (SSB) in DNA, which activate poly(ADP‐ribose) polymerase (PARP). NIC and NIA are then formed from NAD. NIC and NIA can promote epigenetic changes leading to the expression of defense genes specific for the ...
Torkel Berglund, Anna B. Ohlsson
wiley +1 more source
The genetics of neurodevelopmental disease [PDF]
Current Opinion in Neurobiology, 2011 The term neurodevelopmental disorder encompasses a wide range of diseases, including recognizably distinct syndromes known to be caused by very rare mutations in specific genes or chromosomal loci, and also much more common disorders such as schizophrenia, autism spectrum disorders, and idiopathic epilepsy and mental retardation.
openaire +5 more sources