Results 251 to 260 of about 1,302,502 (304)
Evaluation of immune checkpoint inhibitor efficacy for solid tumors with CD274 (PD-L1 gene) amplification identified by comprehensive genomic profiling: retrospective study based on a nationwide database. [PDF]
J Immunother CancerNakayama T +7 more
europepmc +1 more source
The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp +4 more
wiley +1 more source
Combined PIK3CA and SOX2 Gene Amplification Predicts Laryngeal Cancer Risk beyond Histopathological Grading. [PDF]
Int J Mol SciMontoro-Jiménez I +11 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Poly (ADP-Ribose) Polymerase inhibitors (PARPi) therapy response in an acral melanoma patient with EMSY gene amplification. [PDF]
JAAD Case RepNassief G, Butt OH, Zhou AY, Ansstas G.
europepmc +1 more source
A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento +3 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub +24 more
wiley +1 more source