Results 251 to 260 of about 186,676 (349)

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone   +11 more
wiley   +1 more source

The expanding role of 16s ribosomal RNA PCR in the management of patients with infective endocarditis undergoing cardiac surgery. [PDF]

open access: yesFront Cardiovasc Med
Pavone N   +13 more
europepmc   +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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