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Methylome profiling of cell-free DNA during the early life course in (un)complicated pregnancies using MeD-seq: Protocol for a cohort study embedded in the prospective Rotterdam periconception cohort.
PLoS One
January 2025
Department of Obstetrics and Gynaecology, Erasmus Medical Centre Rotterdam, Rotterdam, The Netherlands.
Introduction: Placental DNA methylation differences have been associated with timing in gestation and pregnancy complications. Maternal cell-free DNA (cfDNA) partly originates from the placenta and could enable the minimally invasive study of placental DNA methylation dynamics. We will for the first time longitudinally investigate cfDNA methylation during pregnancy by using Methylated DNA Sequencing (MeD-seq), which is compatible with low cfDNA levels and has an extensive genome-wide coverage.
View Article and Find Full Text PDFHuman organoids for rapid validation of gene variants linked to cochlear malformations.
Hum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
View Article and Find Full Text PDFFast periodic visual stimulation (FPVS) coupled with EEG has been used for a decade to measure word-selective neural responses in (a)typical adults and developmental readers. Here, we used this FPVS-EEG approach to evaluate suitable and optimal stimulation frequency rates for prelexical and lexical word-selective responses and relate these rates to typical reading speed and interindividual variability in reading performance. EEG was recorded in 41 healthy adults who viewed words inserted periodically (1 Hz) at four different stimulation frequency rates (4 Hz, 6 Hz, 10 Hz, and 20 Hz).
View Article and Find Full Text PDFSingle-cell and spatial transcriptomic analyses reveal heterogeneity characteristics and specific cell subtype regulators in growth hormone-secreting pituitary adenomas.
Int J Surg
December 2024
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Background: Growth hormone-secreting pituitary adenomas (GHPA) display diverse biological behaviors and clinical outcomes, necessitating the identification of tumor heterogeneity and prognostically relevant markers.
Methods: In this study, we performed single-cell RNA sequencing (scRNA-seq) on 10 GHPA samples, four of which also underwent spatial transcriptome sequencing, and used scRNA-seq data from four normal pituitary samples as controls. Cell subtype characterization in GHPA was analyzed using multiple algorithms to identify malignant bias regulators, which were then validated using a clinical cohort.
How Do Common Marmosets Maintain the Balance Between Response Execution and Action Inhibition?
Am J Primatol
January 2025
Department of Physiology, Monash Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
Socio-dynamic situations require a balance between response execution and action inhibition. Nonadaptive imbalance between response inhibition and execution exists in neurodevelopmental and neuropsychological disorders. To investigate the underlying neural mechanisms of cognitive control and the related deficits, comparative studies in human and nonhuman primates are crucial.
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