Results 311 to 320 of about 218,218 (394)

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

open access: yesClinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti   +17 more
wiley   +1 more source

Streptococcus pneumoniae serotype 33H: a novel serotype with frameshift mutations in the acetyltransferase gene wciG. [PDF]

open access: yesPneumonia (Nathan)
Manna S   +17 more
europepmc   +1 more source

Membraneless Organelles and Phase Separation in Tumours: Mechanisms and Prospects

open access: yesCell Proliferation, EarlyView.
The Salient and Novel Findings: This article summarises the latest research advancements in phase separation within tumours, with a particular focus on the role and molecular mechanisms of liquid–liquid phase separation (LLPS) in tumour progression.
Hao Yang   +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

In vitro models of valproic acid to assess neurodevelopmental toxicity: A scoping review

open access: yesEpilepsia, EarlyView.
Abstract Valproic acid (VPA) is a first‐line antiseizure medication (ASM) that is highly efficacious for treating generalized and focal epilepsy disorders. Unfortunately, due to its strong association with teratogenic effects culminating in fetal valproate spectrum disorder (FVSD), which may include neurocognitive and neurobehavioral deficits, the drug
Daniel Sandvik   +5 more
wiley   +1 more source

Acetyltransferase NAT10 inhibits T-cell immunity and promotes nasopharyngeal carcinoma progression through DDX5/HMGB1 axis. [PDF]

open access: yesJ Immunother Cancer
Xie H   +9 more
europepmc   +1 more source

Enzyme response to thyrotoxicosis and hypothyroidism in human liver and muscle [PDF]

open access: yes, 1972
Bachmaier, B.   +5 more
core  

Medial septum parvalbumin‐expressing inhibitory neurons are impaired in a mouse model of Dravet syndrome

open access: yesEpilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a severe neurodevelopmental disorder caused by pathogenic variants in the SCN1A gene, which encodes the voltage‐gated sodium channel Nav1.1 α subunit. Experiments in animal models of DS—including the haploinsufficient Scn1a+/− mouse—have identified impaired excitability of interneurons in the hippocampus and ...
Limei Zhu   +5 more
wiley   +1 more source

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