Results 81 to 90 of about 29,886 (297)

Quantitative methods to monitor RNA biomarkers in myotonic dystrophy [PDF]

open access: yes, 2018
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in afected genes.
A Ketley   +30 more
core   +1 more source

CDK4/6 Inhibition Induces CD8+ T Cell Antitumor Immunity via MIF‐Induced Functional Orchestration of Tumor‐Associated Macrophages

open access: yesAdvanced Science, EarlyView.
CDK4/6 inhibition promotes CD8+ T cell expansion through tumor‐macrophage crosstalk by activating HIF‐1α and enhancing MIF‐CD44/CD74 signaling. This reprograms TAMs to boost MHC‐I antigen presentation, and CDK4/6 inhibitor‐trained M1 TAM supernatant therapy synergizes with low‐dose PD‐1 blockade to restore antitumor immunity.
Lin He   +17 more
wiley   +1 more source

Rapid Decentralized Prostate Cancer Risk Stratification by Portable Liquid Biopsy Analysis within a Clinical Biosensor Validation Framework

open access: yesAdvanced Science, EarlyView.
In this work, we showcased two significant scientific advances in (i) developing a portable biosensor technology for rapid decentralized prostate cancer urinary biomarker testing and reporting, with superior performance to current clinical testing practice; and (ii) proposing a clinical validation framework (for our biosensor development) which can be ...
Kevin M. Koo   +14 more
wiley   +1 more source

Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect

open access: yesRomanian Journal of Laboratory Medicine, 2018
Small supernumerary marker chromosome (sSMC) is a rare chromosomal abnormality and is detected in about 0.3% in cases with multiple congenital anomalies (MCA) and/or developmental delay.
Crauciuc George Andrei   +4 more
doaj   +1 more source

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]

open access: yes, 2016
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core  

Quantitative analysis of the dystrophin gene by real-time PCR [PDF]

open access: yes, 2012
Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linked neuromuscular disorders caused by mutations in the dystrophin gene. Our aim was to optimize a quantitative real-time PCR method based on SYBR® Green I chemistry for routine ...
Anđelkovic Ana   +12 more
core   +2 more sources

Microglial Fkbp5 Impairs Post‐Stroke Vascular Integrity and Regeneration by Promoting Yap1‐Mediated Glycolysis and Oxidative Phosphorylation

open access: yesAdvanced Science, EarlyView.
A post‐stroke perivascular niche of microglia characterized by low expression of M2 markers and elevated glycolysis, oxidative phosphorylation (OXPHOS), and phagocytic activity is identified, which is termed stroke‐activated vascular‐associated microglia (stroke‐VAM).
Yanan Li   +8 more
wiley   +1 more source

Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example

open access: yesThe Scientific World Journal, 2010
Multiplex ligation-dependent probe amplification (MLPA) is a multiplex copy number analysis method that is routinely used to identify large mutations in many clinical and research labs.
Malgorzata Marcinkowska   +3 more
doaj   +1 more source

Contribution of Gli1+ Adventitial Stem Cells to Smooth Muscle Cells in Atherosclerosis and Vascular Injury

open access: yesAdvanced Science, EarlyView.
Gli1+ adventitial stem cells (ASCs) have been thought to generate smooth muscle cells (SMCs) in atherosclerosis. Using a dual‐recombinase lineage tracing to exclude ectopic labeling, Wang et al. found that Gli1+ ASCs do not contribute to SMCs in atherosclerotic plaques.
Haixiao Wang   +11 more
wiley   +1 more source

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