نتایج جستجو برای: de novo programming
تعداد نتایج: 1852646 فیلتر نتایج به سال:
BACKGROUND AND PURPOSE Rates of development of de novo intracranial aneurysms and of growth of untreated additional aneurysms are largely unknown. We performed MRA in a large patient cohort with coiled aneurysms at 5-year follow-up. METHODS In 276 patients with coiled intracranial aneurysms and 5±0.5 years of follow-up MRA (totaling 1332 follow-up patient-years), additional aneurysms were cla...
We analyze de novo synonymous mutations identified in autism spectrum disorders (ASDs) and schizophrenia (SCZ) with potential impact on regulatory elements using data from whole-exome sequencing (WESs) studies. Focusing on five types of genetic regulatory functions, we found that de novo near-splice site synonymous mutations changing exonic splicing regulators and those within frontal cortex-de...
Introduction: Dyslipidemia is one of the key risk factors for cardiovascular disease in type 2 diabetes (T2D). The dyslipidemia is characterized by increased plasma concentration of triglycerides (TG), reduced concentration of high density lipoprotein cholesterol (HDL-C) and an increased concentration of small dense low density lipoprotein (LDL) cholesterol. Evidence from bo...
OBJECTIVE The objective of the study was to examine whether cardiac resynchronisation therapy upgrade procedures are more complex and associated with more complications than de novo implantations. METHOD We retrospectively compared 134 upgrade procedures performed between 2006-2012 with a random, equally sized, sample of de novo CRT device implantations in the same period. Procedural data and...
PURPOSE The aim of this study is to evaluate the incidence of de novo malignancy after liver transplantation (LT) and compare with those among the general Chinese population. METHODS A total of 466 patients who had a minimum follow-up time of 6 months were enrolled in the study. All data of medical records and follow up were retrospectively reviewed. RESULTS The incidence rate of de novo ma...
BACKGROUND At least 10 large and rare recurrent DNA copy number variants (CNVs) have been identified as risk factors for schizophrenia and other neurodevelopmental disorders. Because such conditions are associated with reduced fecundity, these pathogenic CNVs should be filtered out from the population by selection and must be replenished by de novo events. METHODS To estimate the mutation rat...
The availability of genomes across the tree of life is highly biased toward vertebrates, pathogens, human disease models, and organisms with relatively small and simple genomes. Recent progress in genomics has enabled the de novo decoding of the genome of virtually any organism, greatly expanding its potential for understanding the biology and evolution of the full spectrum of biodiversity. The...
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autis...
The kinetochore is responsible for accurate chromosome segregation. However, the mechanism by which kinetochores assemble and are maintained remains unclear. Here we report that de novo CENP-A assembly and kinetochore formation on human centromeric alphoid DNA arrays is regulated by a histone H3K9 acetyl/methyl balance. Tethering of histone acetyltransferases (HATs) to alphoid DNA arrays breaks...
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retr...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید