Aneuploidy: from a physiological mechanism of variance to Down syndrome.
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Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteinsDYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down SyndromeThe importance of understanding individual differences in Down syndromeDissecting Alzheimer disease in Down syndrome using mouse modelsSynaptopathies: synaptic dysfunction in neurological disorders - A review from students to studentsGerminal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?Animal models of intellectual disability: towards a translational approachCharacterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTBDosage of the Abcg1-U2af1 region modifies locomotor and cognitive deficits observed in the Tc1 mouse model of Down syndromeNovel subcellular localization of the DNA helicase Twinkle at the kinetochore complex during mitosis in neuronal-like progenitor cells.Mechanisms and consequences of aneuploidy and chromosome instability in the aging brainTwo different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates.Brain phenotype of transgenic mice overexpressing cystathionine β-synthase.Rapid analysis of Saccharomyces cerevisiae genome rearrangements by multiplex ligation-dependent probe amplification.SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome.Somatic genome variations in health and diseaseOntogenetic variation of the human genome.Molecular cytogenetic diagnosis and somatic genome variations.In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research.DNA copy number evolution in Drosophila cell linesIdentification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome.Oxidative Stress and Down Syndrome: A Route toward Alzheimer-Like Dementia.Trisomy of the G protein-coupled K+ channel gene, Kcnj6, affects reward mechanisms, cognitive functions, and synaptic plasticity in mice.Increased excitability and altered action potential waveform in cerebellar granule neurons of the Ts65Dn mouse model of Down syndromeSingle cell genomics of the brain: focus on neuronal diversity and neuropsychiatric diseases.Redox proteomics analysis of HNE-modified proteins in Down syndrome brain: clues for understanding the development of Alzheimer disease.The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndromeDown syndrome: from understanding the neurobiology to therapy.GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny.New insights into the troubles of aneuploidyObstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome.Efficient and rapid generation of large genomic variants in rats and mice using CRISMERESeeing beyond the average cell: branching process models of cell proliferation, differentiation, and death during mouse brain development.Aneuploid human embryonic stem cells: origins and potential for modeling chromosomal disorders.Aging and intellectual disability: insights from mouse models of Down syndrome.A quantitative transcriptome reference map of the normal human hippocampus.Discerning non-disjunction in Down syndrome patients by means of GluK1-(AGAT)(n) and D21S2055-(GATA)(n) microsatellites on chromosome 21.A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation.G-protein-associated signal transduction processes are restored after postweaning environmental enrichment in Ts65Dn, a Down syndrome mouse model.Epigallocatechin-3-gallate, a DYRK1A inhibitor, rescues cognitive deficits in Down syndrome mouse models and in humans.
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P2860
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 2009
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
@en
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
@nl
type
label
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
@en
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
@nl
prefLabel
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
@en
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
@nl
P2860
P50
P1476
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
@en
P2860
P304
P356
10.1152/PHYSREV.00032.2007
P577
2009-07-01T00:00:00Z