Results 91 to 100 of about 609,367 (314)
F1000Research, 2016 In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in the literature. We go on to show how new research has modified these assumptions, pointing to a wide range of individual differences at ...
Annette Karmiloff-Smith +11 more
doaj +1 more source
Molecular Oncology, EarlyView.Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau +36 more
wiley +1 more source
Annals of Clinical and Translational NeurologyObjectives This study sought to evaluate proteomic, metabolomic, and immune signatures in the cerebrospinal fluid of individuals with Down Syndrome Regression Disorder (DSRD). Methods A prospective case–control study comparing proteomic, metabolomic, and
Jonathan D. Santoro +12 more
doaj +1 more source
Molecular Oncology, EarlyView.Targeted therapy was evaluated in SHH medulloblastoma using neuroepithelial stem cell (NES) and tumor‐derived NES‐like (tNES) models in 2D monolayers and 3D spheroids. PI3K, AKT, and CDK4/6 inhibitors had minimal effects in NES but markedly reduced viability and growth and induced apoptosis in tNES cells, revealing distinct therapeutic vulnerabilities.
Monika Lukoseviciute +4 more
wiley +1 more source
, 1990 El libro es el resultado de la compilación de las colaboraciones de expertos internacionales reunidos en un Simposio Internacional sobre Psicología y Psicobiología Educativa e Integración Social de las personas con Síndrome de Down, organizado por Juan ...
Pérez López, Julio +2 more
core
Delay of gratification in young adults with Down syndrome
, 2001 Thirty-one young adults (17-23 years of age) with Down syndrome participated in two self-imposed delay of gratification trials. Thirty-six and forty-eight percent waited for the experimenter to return (15 minutes) on Trials 1 and 2 respectively, and ...
Jobling, A., Einam, M., Cuskelly, M.
core +1 more source
Quality of life in Irish children with Down syndrome: a cross-sectional study [PDF]
, 2022 Objectives: Our main aim was to investigate quality of life (QoL) in Irish children with Down Syndrome (DS). We evaluated the impact of chronic health conditions on QoL, and determined whether frequency of screening for these conditions impact QoL ...
Curtin, Ella
core
Molecular Oncology, EarlyView.EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain +10 more
wiley +1 more source
Voxel‐based dysconnectomic brain morphometry with computed tomography in Down syndrome
Annals of Clinical and Translational NeurologyObjective Alzheimer's disease (AD) is a major health concern for aging adults with Down syndrome (DS), but conventional diagnostic techniques are less reliable in those with severe baseline disability.
Beatriz Sánchez‐Moreno +8 more
doaj +1 more source
Interpreting the effects of DNA polymerase variants at the structural level
Molecular Oncology, EarlyView.Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi +7 more
wiley +1 more source