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Down syndrome [PDF]

Nature Reviews Disease Primers, 2020
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are compatible with human survival post-term, and the most frequent survivable autosomal aneuploidy. Mouse models of DS, involving trisomy of all or
Stylianos Antonarakis, Brian G Skotko, Michael S Rafii   +2 more
exaly   +9 more sources

Altered hepatic metabolism in Down syndrome [PDF]

Cell Reports
Summary: Trisomy 21 (T21) gives rise to Down syndrome (DS), the most commonly occurring chromosomal abnormality in humans. T21 affects nearly every organ and tissue system in the body, predisposing individuals with DS to congenital heart defects ...
Lauren N. Dunn, Brian F. Niemeyer, Neetha P. Eduthan, Kyndal A. Schade, Katherine A. Waugh, Chrisstopher Brown, Angela L. Rachubinski, Ariel E. Timkovich, David J. Orlicky, Matthew D. Galbraith, Joaquin M. Espinosa, Kelly D. Sullivan   +11 more
doaj   +2 more sources

Down Syndrome

DOKITA
No ...
Pal A, Daley SF.
europepmc   +2 more sources

Comparison of resting-state EEG between adults with Down syndrome and typically developing controls

Journal of Neurodevelopmental Disorders, 2021
Background Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) worldwide. Understanding electrophysiological characteristics associated with DS provides potential mechanistic insights into ID, helping inform biomarkers and
Sarah Hamburg, Daniel Bush, Andre Strydom, Carla M. Startin   +3 more
doaj   +1 more source

Evaluation of congenital and acquired heart diseases in a Spanish cohort of adults with Down syndrome

Scientific Reports, 2022
To describe congenital and acquired heart diseases in a Spanish cohort of adults with Down syndrome (DS), which could inform potential health recommendations for this population.
Laura Rabes, Laura Adán-Lirola, María del Pilar González-Molina, José María Galván-Román, Fernando Moldenhauer, Emilia Roy-Vallejo, Diego Real de Asúa   +6 more
doaj   +1 more source

Lipid profile of Mexican children with Down syndrome

BMC Pediatrics, 2021
Introduction Down syndrome (DS) is associated with various congenital anomalies and metabolic alterations, such as dyslipidemias, that can lead to cardiovascular disease in adulthood.
Silvestre Garcia-de la Puente, Karla A. Flores-Arizmendi, María J. Delgado-Montemayor, Tania T. Vargas-Robledo   +3 more
doaj   +1 more source

Blood cytology in children with down syndrome

BMC Pediatrics, 2022
Introduction Down syndrome is associated with various congenital anomalies and metabolic alterations such as hematological alterations. Values for the major hematological indicators vary with age and sex, but these values have not been described for ...
Silvestre García de la Puente, Karla Adney Flores-Arizmendi, Yessica Yuliana Guerrero-Tapia, Tania Tonantzin Vargas-Robledo, Norma Candelaria López-Santiago   +4 more
doaj   +1 more source

Imipramine and olanzapine block apoE4-catalyzed polymerization of Aβ and show evidence of improving Alzheimer’s disease cognition

Alzheimer’s Research & Therapy, 2022
Background The apolipoprotein E (APOE) ε4 allele confers the strongest risk for late-onset Alzheimer’s disease (AD) besides age itself, but the mechanisms underlying this risk are debated.
Noah R. Johnson, Athena C.-J. Wang, Christina Coughlan, Stefan Sillau, Esteban Lucero, Lisa Viltz, Neil Markham, Cody Allen, A. Ranjitha Dhanasekaran, Heidi J. Chial, Huntington Potter   +10 more
doaj   +1 more source

Intracerebral haemorrhage in Down syndrome: protected or predisposed? [version 1; referees: 2 approved]

F1000Research, 2016
Down syndrome (DS), which arises from trisomy of chromosome 21, is associated with deposition of large amounts of amyloid within the central nervous system.
Lewis Buss, Elizabeth Fisher, John Hardy, Dean Nizetic, Jurgen Groet, Laura Pulford, André Strydom   +6 more
doaj   +1 more source

PPM1D suppresses p53-dependent transactivation and cell death by inhibiting the Integrated Stress Response

Nature Communications, 2022
The authors describe a functional crosstalk between the p53 network and the integrated stress response through the p53 repressor PPM1D. Inhibition of PPM1D potentiates p53-dependent transactivation and apoptosis via induction of the HRI-eIF2α-ATF4 ...
Zdenek Andrysik, Kelly D. Sullivan, Jeffrey S. Kieft, Joaquin M. Espinosa   +3 more
doaj   +1 more source