Results 281 to 290 of about 1,591,440 (405)

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori   +9 more
wiley   +1 more source

Long noncoding RNA GCH1 mediates mitophagy via the PTEN‐induced kinase 1/Parkin pathway to drive chondrocyte dysfunction and cartilage degeneration in osteoarthritis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The graphical abstract illustrates the role of lncRNA‐GCH1 in regulating mitophagy and its downstream effects on chondrocyte dysfunction and cartilage degradation in osteoarthritis (OA). Elevated lncRNA‐GCH1 stabilizes PINK1 protein, enhancing mitophagy and mitochondrial turnover.
Gang Zeng   +8 more
wiley   +1 more source

The FindMNDBiomarker Program: Protein Changes in Motor Neuron Disease/Amyotrophic Lateral Sclerosis Postmortem Tissue and Biofluids

open access: yesAnnals of Neurology, EarlyView.
Objective Biomarkers of disease pathogenesis are critically needed for amyotrophic lateral sclerosis (ALS) to facilitate diagnosis and patient stratification into appropriate therapeutic trials. Proteomic studies offer significant potential to advance this, but reproducibility across laboratories is a key component toward identifying protein changes ...
Gabrielle L. Adler   +2 more
wiley   +1 more source

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