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Key gene linked to male bias in autism, Tourette's, and ADHD uncovered

Sex bias in attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Tourette syndrome (TS). ....

United Kingdom , Xgen Exome Research Panel , Nature Communications , Rarex Linked , Simons Simplex Collection , Adolescent Psychiatry , Adolescent Psychiatric Assessment , Hromosome X , Tourette Syndrome , X Linked ,

Epigenetic regulation during cancer transitions across 11 tumour types

Chromatin accessibility is essential in regulating gene expression and cellular identity, and alterations in accessibility have been implicated in driving cancer initiation, progression and metastasis1–4. Although the genetic contributions to oncogenic transitions have been investigated, epigenetic drivers remain less understood. Here we constructed a pan-cancer epigenetic and transcriptomic atlas using single-nucleus chromatin accessibility data (using single-nucleus assay for transposase-accessible chromatin) from 225 samples and matched single-cell or single-nucleus RNA-sequencing expression data from 206 samples. With over 1 million cells from each platform analysed through the enrichment of accessible chromatin regions, transcription factor motifs and regulons, we identified epigenetic drivers associated with cancer transitions. Some epigenetic drivers appeared in multiple cancers (for example, regulatory regions of ABCC1 and VEGFA; GATA6 and FOX-family motifs), wherea ....

United States , Featurematrix Signac , Rxm Leica Biosystems , Mycoalert Lonza , Perkin Elmer , Ensdb Hsapiens , Txdb Hsapiens , K Metstat Panel , Cell Signalling Technology , Xgen Exome Research Panel , Library Gel Bead Kit , Jackson Laboratory , International Cell Line Authentication Committee , Washington University School Of Medicine , Library Prep Kit , Cell Signaling Technology , Institutional Review Board , Washington University , Chromium Next , Cell Multiome , Gene Expression , Thermo Fisher Scientific , Genomics Single Indexn Set , Genomics Dual Index , Miltenyi Dead Cell Removal Kit , Genomics Chromium ,

Frontiers | A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report

Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei, China
The pathogenesis of Alzheimer s disease is complex, and early-onset Alzheimer s disease (EOAD) is mostly influenced by genetic factors. Presenilin-1, presenilin-2 (PSEN2), and amyloid precursor protein are currently known as the three main causative genes for autosomal dominant EOAD, with the PSEN2 mutation being the rarest. In this study, we reported a 56-year-old Chinese Han proband who presented with prominent progressive amnesia, aphasia, executive function impairment, and depression 5 years ago. The 3-year follow-up showed that the patient experienced progressive brain atrophy displayed on magnetic resonance imaging (MRI) and dramatic cognitive decline assessed by neuropsychological evaluation. This patient was clinically diagnosed as EOAD based on established criteria. A heterozygous variant (NM 000447.2: c.1106T>C) of PSEN2 was identified for the first time in this patient a ....

United Kingdom , United States , San Diego , Ultrasonicator Covaris , Silva Lopes , Alzheimers Dement , User Tax , National Natural Science Foundation Of China , Department Of Neurology , Sequence Control Software Illumina , Key Research , Development Projects Of Anhui Province , National Institute On , Xgen Exome Research Panel , Mathworks Inc , Exome Aggregation Consortium Ex , Montreal Neurological Institute , Alzheimer Association , Chinese Han , First Affiliated Hospital , Anhui Medical University , Ethics Committee , Computational Anatomy Toolbox , Mini Mental State Examination , Montreal Cognitive Assessment , Cambridge Cognitive Examination Chinese ,