Results 101 to 110 of about 517,834 (299)
Rare copy number variants contribute to congenital left-sided heart disease.
PLoS Genetics, 2012 Left-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology.
Marc-Phillip Hitz +27 more
doaj +1 more source
Polygenic risk for schizophrenia and season of birth within the UK Biobank cohort [PDF]
, 2018 Background: There is strong evidence that people born in winter and in spring have a small increased risk of schizophrenia. As this ‘season of birth’ effect underpins some of the most influential hypotheses concerning potentially modifiable risk ...
Escott-Price, Valentina +7 more
core +3 more sources
Molecular Oncology, EarlyView.Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice +16 more
wiley +1 more source
Copy number variants are produced in response to low‐dose ionizing radiation in cultured cells [PDF]
, 2013 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106089/1/em21840 ...
Arlt, Martin F. +4 more
core +1 more source
Molecular Oncology, EarlyView.Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon +9 more
wiley +1 more source
Molecular Oncology, EarlyView.Etoposide induces DNA damage, activating p53‐dependent apoptosis via caspase‐3/7, which cleaves PARP1. Dammarenediol II enhances this apoptotic pathway by suppressing O‐GlcNAc transferase activity, further decreasing O‐GlcNAcylation. The reduction in O‐GlcNAc levels boosts p53‐driven apoptosis and influences the Akt/GSK3β/mTOR signaling pathway ...
Jaehoon Lee +8 more
wiley +1 more source
Detection of Genomic Structural Variants from Next-Generation Sequencing Data [PDF]
, 2015 Structural variants are genomic rearrangements larger than 50?bp accounting for around 1% of the variation among human genomes. They impact on phenotypic diversity and play a role in various diseases including neurological/neurocognitive disorders and ...
D\u27Aurizio, Romina
core +1 more source
Molecular Oncology, EarlyView.In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge +17 more
wiley +1 more source
Chromosomal Microarray Testing and Epilepsy
Pediatric Neurology Briefs, 2014 Investigators at the Boston Children's Hospital, MA, and other centers evaluated the role of copy number variants (CNVs) detected using chromosomal microarray (CMA) testing in 805 patients seen between 2006 and 2011 and having ICD-9 codes for epilepsy or
J Gordon Millichap, John J Millichap
doaj +1 more source
Molecular Oncology, EarlyView.Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley +5 more
wiley +1 more source