Results 51 to 60 of about 4,376,271 (343)

DNA methylation profiling identifies a high effect genetic variant for lipoprotein(a) levels

open access: yesEpigenetics, 2020
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]

open access: yesAnnals of Applied Statistics 2015, Vol. 9, No. 4, 2052-2072, 2016
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

Methylation of a CpG site near the ALDH1A2 gene is associated with loss of control over drinking and related phenotypes.

open access: yesAlcoholism: Clinical and Experimental Research, 2014
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]

open access: yesBMC Medical Genomics, 2020
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

AIE‐based drug/gene delivery system: Evolution from fluorescence monitoring alone to augmented therapeutics

open access: yesAggregate, Volume 3, Issue 6, December 2022., 2022
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

DNA Methylation at a Bovine Alpha Satellite I Repeat CpG Site during Development following Fertilization and Somatic Cell Nuclear Transfer

open access: yesPLoS ONE, 2013
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

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
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.

open access: yesPLoS ONE, 2015
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

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 357-369, February 2023., 2023
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

The number of methylated CpG sites within the MGMT promoter region linearly correlates with outcome in glioblastoma receiving alkylating agents

open access: yesActa Neuropathologica Communications, 2021
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

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