Results 181 to 190 of about 258,313 (263)

Advances in GPCRs Associated With Wnt Signaling Within the Auditory System

open access: yesMedicine Bulletin, EarlyView.
ABSTRACT G protein‐coupled receptors (GPCRs) that interact with the Wnt signaling pathway are pivotal for auditory system homeostasis, as they orchestrate inner ear development, hair cell (HC) regeneration, and hearing preservation. Frizzled (FZD) receptors, the core Wnt‐related GPCRs, bind Wnt ligands and co‐receptors (e.g., LRP5/6) to activate both ...
Liang Wang   +3 more
wiley   +1 more source

Molecular Diagnostics in Thyroid Nodules: Current Applications, Clinical Value, and Future Perspective

open access: yesMed Research, EarlyView.
ABSTRACT Molecular diagnostics have become an important adjunct to ultrasonography and fine‐needle aspiration (FNA) for thyroid nodules, especially in Bethesda III/IV cytology where malignancy risk is uncertain. This narrative review summarizes the diagnostic and prognostic value of key genomic drivers (BRAF V600E, RAS, RET, TERT, and selected fusions)
Guohui Xiao   +14 more
wiley   +1 more source

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

open access: yesMovement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen   +27 more
wiley   +1 more source

Ex Vivo LRRK2 Activation in Asian G2385R and R1628P Variant Carriers and Idiopathic Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) kinase inhibition is a promising therapeutic strategy for Parkinson's disease (PD), but the functional impact of Asian‐prevalent LRRK2 p.G2385R and p.R1628P variants remains unclear. Robust patient stratification and target engagement markers are needed for global LRRK2‐targeted trials ...
Tzi Shin Toh   +17 more
wiley   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer   +15 more
wiley   +1 more source

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant. [PDF]

open access: yesDoc Ophthalmol
Chou JJ   +7 more
europepmc   +1 more source

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