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UnknownEWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder.
Tic spectrum disorder (TSD) is an umbrella term which includes Gilles de la Tourette syndrome (GTS) and chronic tic disorder (CTD). They are considered highly heritable, yet the genetic components remain largely unknown. In this study we aimed to investigate disease-associated DNA methylation differ...
S-EPMC8535383 | biostudies-literature
UnknownBortezomib induces methylation changes in neuroblastoma cells that appear to play a significant role in resistance development to this compound.
The anticancer activity of bortezomib (BTZ) has been increasingly studied in a number of indications and promising results for the use of this treatment have been shown in neuroblastoma. As BTZ treatment is usually administered in cycles, the development of resistance and side effects in patients un...
S-EPMC8110815 | biostudies-literature
UnknownPharmacogenetic genotype and phenotype frequencies in a large Danish population-based case-cohort sample.
Pharmacogenetics aims to improve clinical care by studying the relationship between genetic variation and variable drug response. Large population-based datasets could improve our current understanding of pharmacogenetics from selected study populations. We provide real-world pharmacogenetic frequen...
S-EPMC8131614 | biostudies-literature
UnknownCo-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study.

Background

The association between autism spectrum disorder and hydrocephalus is not well understood, despite demonstrated links between autism spectrum disorder and cerebrospinal fluid abnormalities. Based on the hypothesis that autism spectrum disorder and hydrocephalus may, at least in so...
S-EPMC8082886 | biostudies-literature
UnknownDoBSeqWF: a framework for sensitive detection of individual genetic variation in pooled sequencing data.
Population screening for rare genetic diseases has the potential to increase early diagnosis and treatment, but the high cost of next-generation sequencing limits widespread implementation. Double-batched sequencing (DoBSeq) is a cost-effective method that uses two-dimensional overlapping pool seque...
S-EPMC12907731 | biostudies-literature
UnknownReduced neonatal brain-derived neurotrophic factor is associated with autism spectrum disorders.
Mental disorders have for the majority of cases an unknown etiology, but several studies indicate that neurodevelopmental changes happen in utero or early after birth. We performed a nested case-control study of the relation between blood levels of neuro-developmental (S100B, BDNF, and VEGF-A) and i...
S-EPMC6779749 | biostudies-literature
UnknownProteomic profiling of neonatal herpes simplex virus infection on dried blood spots.

Background

Neonatal herpes simplex virus (HSV) infection is life-threatening, with a mortality of up to 70-80% when disseminated, often due to vague symptoms and delayed treatment. Neonatal screening using dried blood spot (DBS) samples is among the most impactful preventative health measure...
S-EPMC11655519 | biostudies-literature
UnknownEarly life determinants of skeletal maturation, body composition and endocrine health in young adults (EPIPEAK): protocol for a nationwide birth cohort study.

Introduction

Early-life exposures, such as nutritional deficiencies, stress, smoking, toxins, medications, diseases, infections and inflammation may affect multiple physiological and metabolic systems in the offspring, including hormonal regulation, bone metabolism and mineralisation, and bo...
S-EPMC12551503 | biostudies-literature
UnknownGenome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.
Infantile hypertrophic pyloric stenosis (IHPS) is a disorder of young infants with a population incidence of ∼2/1000 live births, caused by hypertrophy of the pyloric sphincter smooth muscle. Reported genetic loci associated with IHPS explain only a minor proportion of IHPS risk. To identify new ris...
S-EPMC6322072 | biostudies-literature
UnknownIdiopathic early ovarian aging: is there a relation with premenopausal accelerated biological aging in young women with diminished response to ART?

Purpose

To evaluate whether young women with idiopathic early ovarian aging, as defined by producing fewer oocytes than expected for a given age over multiple in vitro fertilization (IVF) cycles, have changes in telomere length and epigenetic age indicating accelerated biological aging (i.e....
S-EPMC8609087 | biostudies-literature
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