Results 201 to 210 of about 4,677,373 (388)
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source
Construction of a genetically engineered microorganism for CO2fixation using aRhodopseudomonas/Escherichia colishuttle vector [PDF]
, 2003 Cui-Hong Du +5 more
openalex +1 more source
Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro +12 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang +11 more
wiley +1 more source
Adeno-associated viral vector-mediated human vascular endothelial growth factor gene transfer stimulates angiogenesis and wound healing in the genetically diabetic mouse [PDF]
, 2003 Mariarosaria Galeano +8 more
openalex +1 more source
Genetics of Insect Vectors of Disease [PDF]
Bulletin of the Entomological Society of America, 1968 openaire +2 more sources
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source