Results 51 to 60 of about 4,376,271 (343)
DNA methylation profiling identifies a high effect genetic variant for lipoprotein(a) levels
Changes in whole blood DNA methylation levels at several CpG sites have been associated with circulating blood lipids, specifically high-density lipoprotein and triglycerides.
Gregory T. Jones+8 more
doaj +1 more source
Identifying heterogeneous transgenerational DNA methylation sites via clustering in beta regression [PDF]
This paper explores the transgenerational DNA methylation pattern (DNA methylation transmitted from one generation to the next) via a clustering approach. Beta regression is employed to model the transmission pattern from parents to their offsprings at the population level.
arxiv +1 more source
BACKGROUND The pathophysiology of alcohol use disorders (AUDs) may be influenced by epigenetics processes such as DNA methylation, but the identification of DNA methylation patterns associated with AUDs has largely been limited to a handful of candidate ...
N. Harlaar+5 more
semanticscholar +1 more source
Genome-wide identification of methylated CpG sites in nongenital cutaneous warts [PDF]
AbstractBackgroundLow-risk HPV infection has not been the subject of epigenetic investigation. The present study was carried out in order to investigate the methylation status of CpG sites in non-genital cutaneous warts.MethodsGenomic DNA was extracted from 24 paired epidermal samples of warts and normal skin.
Laith N. AL-Eitan+3 more
openaire +4 more sources
The aggregation‐induced emission luminogens (AIEgens) propel the development of drug and gene delivery systems. The lit‐up AIEgens first serve for real‐time monitoring of the delivery processes and evaluation of therapeutic responses of drug/gene. The delicate design of AIEgens to form high‐level structural carrier remarkably enhances the delivery ...
Jie Sun, Xuewen He
wiley +1 more source
Incomplete epigenetic reprogramming is postulated to contribute to the low developmental success following somatic cell nuclear transfer (SCNT). Here, we describe the epigenetic reprogramming of DNA methylation at an alpha satellite I CpG site (αsatI-5 ...
C. Couldrey, D. Wells
semanticscholar +1 more source
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia+30 more
wiley +1 more source
Methylation levels of SLC23A2 and NCOR2 genes correlate with spinal muscular atrophy severity.
Spinal muscular atrophy (SMA) is a monogenic neurodegenerative disorder subdivided into four different types. Whole genome methylation analysis revealed 40 CpG sites associated with genes that are significantly differentially methylated between SMA ...
Galina Yu Zheleznyakova+7 more
doaj +1 more source
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility.
Emma K. Baker+17 more
wiley +1 more source
MGMT-promoter methylation is associated with favorable outcome in glioblastoma. The aim of this study was to determine whether the absolute number of methylated Cytosine-Guanine-dinucleotide-(CpG-)sites within the DMR-2 island of the MGMT-promoter may ...
Sebastian Siller+6 more
doaj +1 more source