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Down Syndrome

Down Syndrome diagram by Darryl Leja, NHGRI
Darryl Leja, NHGRI

Down syndrome is a chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Discover the latest research on Down syndrome here.

Top 20 most recent papers

Causal modulation of right fronto-parietal phase synchrony with Transcranial Magnetic Stimulation during a conscious visual detection task

bioRxivDecember 2, 2019
Chloe StengelAntoni Valero-Cabré
Prenatal Diagnosis

Cell-free DNA for Down syndrome screening in obese women: Is it a cost-effective strategy?

Prenatal DiagnosisDecember 5, 2019
Maeve K HopkinsSarah K Dotters-Katz
Environmental Pollution

Developmental exposure to lead at environmentally relevant concentrations impaired neurobehavior and NMDAR-dependent BDNF signaling in zebrafish larvae

Environmental PollutionNovember 21, 2019
Jing ZhaoJian-Feng Bai
Nucleic Acids Research

Design of a programmable biosensor-CRISPRi genetic circuits for dynamic and autonomous dual-control of metabolic flux in Bacillus subtilis

Nucleic Acids ResearchDecember 4, 2019
Yaokang WuLong Liu
Journal of the American Heart Association

miR-181c Activates Mitochondrial Calcium Uptake by Regulating MICU1 in the Heart

Journal of the American Heart AssociationDecember 6, 2019
Hemanth Naick BanavathSamarjit Das
PloS One

Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis

PloS OneDecember 4, 2019
Wei ZhangAslam Hayat Anis

A non-mosaic humanized mouse model of Down syndrome, trisomy of the long arm of human chromosome 21 in mouse chromosome background

bioRxivDecember 2, 2019
Roger H. ReevesMitsuo Oshimura
Frontiers in Molecular Neuroscience

DYRK1A Overexpression Alters Cognition and Neural-Related Proteomic Pathways in the Hippocampus That Are Rescued by Green Tea Extract and/or Environmental Enrichment

Frontiers in Molecular NeuroscienceNovember 15, 2019
Ilario De TomaMara Dierssen

The Anti-inflammatory Immune Regulation Induced by Butyrate Is Impaired in Inflamed Intestinal Mucosa from Patients with Ulcerative Colitis

InflammationDecember 3, 2019
Maria K MagnussonLena Öhman
Journal of Hazardous Materials

Metabolomics and lipidomics study unveils the impact of polybrominated diphenyl ether-47 on breast cancer mice

Journal of Hazardous MaterialsOctober 13, 2019
Juntong WeiZong-Wei Cai
Acta Neuropathologica Communications

Secernin-1 is a novel phosphorylated tau binding protein that accumulates in Alzheimer's disease and not in other tauopathies

Acta Neuropathologica CommunicationsDecember 3, 2019
Geoffrey PiresEleanor S Drummond
Current Opinion in Endocrine and Metabolic Research

Anorexia Nervosa and Bone

Current Opinion in Endocrine and Metabolic ResearchDecember 1, 2018
Melanie Schorr, Anne Klibanski
Bone Reports

Marrow adipose tissue gradient is preserved through high protein diet and bed rest. A randomized crossover study

Bone ReportsDecember 1, 2019
Guy TrudelOdette Laneuville
Biopreservation and Biobanking

Effects of Me2 SO and Trehalose on the Cell Viability, Proliferation, and Bcl-2 Family Gene (BCL-2 , BAX , and BAD ) Expression in Cryopreserved Human Breast Cancer Cells

Biopreservation and BiobankingDecember 3, 2019
Myagmarjav BumbatBao-Lin Liu
Neurotoxicity Research

Effects of a Tripeptide on Mitogen-Activated Protein Kinase and Glycogen Synthase Kinase Activation in a Cell Line Derived from the Foetal Hippocampus of a Trisomy 16 Mouse: an Animal Model of Down Syndrome

Neurotoxicity ResearchDecember 4, 2019
Tushar AroraShiv Kumar Sharma
Disability and Health Journal

Mental health outcomes among parents of a child who has a developmental disability: Comparing different types of developmental disability

Disability and Health JournalNovember 21, 2019
Sandra Maureen MarquisMichael V Hayes
Journal of Neurophysiology

Primate somatosensory cortical neurons are entrained to both spontaneous and peripherally evoked spindle oscillations

Journal of NeurophysiologyDecember 4, 2019
Srihari Y SritharanTimothy H Lucas
Nature Reviews. Neurology

Integrated stress response mediates cognitive decline in Down syndrome

Nature Reviews. NeurologyDecember 4, 2019
Heather B Wood
BMC Veterinary Research

Development and application of an antibody detection ELISA for Haemophilus parasuis based on a monomeric autotransporter passenger domain

BMC Veterinary ResearchDecember 3, 2019
Yunbao LiuXiao-Juan Xu
Drug Design, Development and Therapy

Renoprotective Effects Of Isoliquiritin Against Cationic Bovine Serum Albumin-Induced Membranous Glomerulonephritis In Experimental Rat Model Through Its Anti-Oxidative And Anti-Inflammatory Properties

Drug Design, Development and TherapyOctober 30, 2019
Ying-Ying LiuSi-qi Zhang

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