Results 11 to 20 of about 568,561 (211)
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 +3 more
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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 +6 more
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Health comorbidities and cognitive abilities across the lifespan in Down syndrome
Journal of Neurodevelopmental Disorders, 2020 Background Down syndrome (DS) is associated with variable intellectual disability and multiple health and psychiatric comorbidities. The impact of such comorbidities on cognitive outcomes is unknown.
Carla M. Startin +10 more
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Journal of Patient-Centered Research and Reviews, 2021 Purpose: Given the current life expectancy and number of individuals living with Down syndrome (DS), it is important to learn common occurrences of disease conditions across the developmental lifespan.
Brian Chicoine +5 more
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JAK1 Inhibition Blocks Lethal Immune Hypersensitivity in a Mouse Model of Down Syndrome
Cell Reports, 2020 Summary: Individuals with Down syndrome (DS; trisomy 21) display hyperactivation of interferon (IFN) signaling and chronic inflammation, which could potentially be explained by the extra copy of four IFN receptor (IFNR) genes encoded on chromosome 21 ...
Kathryn D. Tuttle +15 more
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Journal of Patient-Centered Research and Reviews, 2022 Findings from a recent study of the largest documented cohort of individuals with Down syndrome (DS) in the United States described prevalence of common disease conditions and strongly suggested significant disparity in mental health conditions among ...
Anne Rivelli +6 more
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Red blood cell metabolism in Down syndrome: hints on metabolic derangements in aging
Blood Advances, 2017 : Red blood cells (RBCs) are the most abundant cell in the human body. During their ∼120-day life span in the circulatory system, RBCs release oxygen to all human tissues while being exposed to tissue metabolic activity.
Rachel Culp-Hill +10 more
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Prevalence of Endocrine Disorders Among 6078 Individuals With Down Syndrome in the United States
Journal of Patient-Centered Research and Reviews, 2022 Findings from a recent study describing prevalence of common disease conditions in the largest documented cohort of individuals with Down syndrome (DS) in the United States strongly suggested significant disparity in endocrine disorders among these ...
Anne Rivelli +6 more
doaj +1 more source
Current Gerontology and Geriatrics Research, 2012 The initial clinical description of Down syndrome (DS) was made by Down in 1866 [1] and identified as trisomy of chromosome 21 by Lejeune et al. in 1959 [2]. DS, or trisomy 21, is one of the most common causes of intellectual disability (ID), and recent national prevalence estimates suggest that 14.47 per 10,000 live births are infants with DS, leading
Elizabeth Head +3 more
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Prevalence of Infectious Diseases Among 6078 Individuals With Down Syndrome in the United States
Journal of Patient-Centered Research and Reviews, 2022 A recent disease prevalence study of the largest documented Down syndrome (DS) cohort in the United States strongly suggested significant disparity in general infectious disease conditions among individuals with DS versus those without DS. In this follow-
Veronica Fitzpatrick +6 more
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