Results 61 to 70 of about 978,334 (297)
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski +9 more
wiley +1 more source
Background The present study aims to investigate the preliminary mechanism underlying the peritoneal metastasis of gastric cancer cells. Methods Exosomes from GC9811 cells (Con-Exo) and from GC9811-P cells (PM-Exo) were extracted by ultracentrifugation ...
Xian-Ming Lin +3 more
doaj +1 more source
Age-related changes in polycomb gene regulation disrupt lineage fidelity in intestinal stem cells
Tissue homeostasis requires long-term lineage fidelity of somatic stem cells. Whether and how age-related changes in somatic stem cells impact the faithful execution of lineage decisions remains largely unknown.
Helen M Tauc +10 more
doaj +1 more source
Next‐generation sequencing for mitochondrial disorders [PDF]
A great deal of our understanding of mitochondrial function has come from studies of inherited mitochondrial diseases, but still majority of the patients lack molecular diagnosis. Furthermore, effective treatments for mitochondrial disorders do not exist.
Carroll CJ, Brilhante V, Suomalainen A.
openaire +2 more sources
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
Next-Generation Sequencing: The Race Is On [PDF]
The $1000 genome may still be years away, but with the arrival of next-generation sequencing (NGS) technologies that are much faster and cheaper than the traditional Sanger method, large-scale sequencing of hundreds or even thousands of human genomes is fast becoming reality.
openaire +2 more sources
Next-Generation Sequencing and Emerging Technologies [PDF]
AbstractGenetic sequencing technologies are evolving at a rapid pace with major implications for research and clinical practice. In this review, the authors provide an updated overview of next-generation sequencing (NGS) and emerging methodologies. NGS has tremendously improved sequencing output while being more time and cost-efficient in comparison to
Kishore R. Kumar +2 more
openaire +3 more sources
Participating in Next Generation Sequencing [PDF]
On February 20, 2015, as part of the Precision Medicine Initiative, announced by President Obama, the Food and Drug Administration (FDA) held a meeting at the National Institutes of Health (NIH) all day. The meeting was titled “Optimizing FDA's Regulatory Oversight of Next Generation Sequencing Diagnostic Tests” (Food and Drug Administration, 2015 ...
openaire +2 more sources
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider +4 more
wiley +1 more source
ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm +11 more
wiley +1 more source

