Results 121 to 130 of about 517,834 (299)
CNVxplorer: A web tool for the interpretation of copy number variants [PDF]
, 2019 Máster en Bioinformática Traslacional y Medicina PersonalizadaThe detection of Copy Number Variants (CNVs) has been gradually introduced into routine diagnostics over the last 15 years and has been described as an important source of pathogenic ...
Requena Sánchez, Francisco
core +1 more source
Molecular Oncology, EarlyView.Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson +9 more
wiley +1 more source
Genetic copy number variants in myocardial infarction patients with hyperlipidemia
BMC Genomics, 2011 Background Cardiovascular disease is the chief cause of death in Taiwan and many countries, of which myocardial infarction (MI) is the most serious condition.
Shia Wei-Chung +9 more
doaj +1 more source
Molecular Oncology, EarlyView.Pre‐analytical handling critically determines liquid biopsy performance. This study defines practical best‐practice conditions for cell‐free DNA (cfDNA) and extracellular vesicle–derived DNA (evDNA), showing how processing time, storage conditions, tube type, and plasma input volume affect DNA integrity and mutation detection.
Jonas Dohmen +11 more
wiley +1 more source
Molecular Oncology, EarlyView.Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau +36 more
wiley +1 more source
Causative Factors for ADHD: Role of Copy Number Variants in ADHD
Pediatric Neurology Briefs, 2014 Investigators from Brazil determined if copy number variants (CNVs) in glutamate metabotropic receptor genes (GRM) were overrepresented in 1038 individuals with ADHD compared to 1057 subjects without ADHD.
J Gordon Millichap, John J Millichap
doaj +1 more source
Molecular Oncology, EarlyView.Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch +13 more
wiley +1 more source
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
Rare copy-number variants as modulators of common disease susceptibility
Genome MedicineBackground Copy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described.
Chiara Auwerx +9 more
doaj +1 more source
An interaction-based model for neuropsychiatric features of copy-number variants.
PLoS Genetics, 2019 Variably expressive copy-number variants (CNVs) are characterized by extensive phenotypic heterogeneity of neuropsychiatric phenotypes. Approaches to identify single causative genes for these phenotypes within each CNV have not been successful.
Matthew Jensen, Santhosh Girirajan
doaj +1 more source