Results 91 to 100 of about 787,372 (189)
The role of circular RNAs in regulating cytokine signaling in cancer
FEBS Open Bio, EarlyView.Cytokines present in the tumor microenvironment fuel cancer development. Aberrant expression of circRNAs contributes to cancer progression. Cytokines are involved in regulating circRNA biogenesis. Furthermore, aberrantly expressed circRNAs regulate the expression of ligands, receptors, and downstream effectors involved in cytokine signaling to promote ...
Vandana Joshi +4 more
wiley +1 more source
Development of 4T1 breast cancer mouse model system for preclinical carbonic anhydrase IX studies
FEBS Open Bio, EarlyView.Carbonic anhydrase IX (CAIX) is a well‐recognised therapeutic target and prognostic biomarker in cancer. We developed and characterised a robust murine breast cancer model system that is suitable for CAIX studies in vitro and in vivo—it comprises both CAIX‐positive and CAIX‐negative controls and provides a solid platform for the comprehensive ...
Zane Kalniņa +13 more
wiley +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu +12 more
wiley +1 more source
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano +15 more
wiley +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Metabolic Consequences of Rheumatoid Arthritis
Arthritis Care &Research, EarlyView.Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry +2 more
wiley +1 more source