Down syndrome

SE Antonarakis, BG Skotko, MS Rafii… - Nature Reviews …, 2020 - nature.com
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 …

Rodent models in Down syndrome research: impact and future opportunities

Y Herault, JM Delabar, EMC Fisher… - Disease models & …, 2017 - journals.biologists.com
Down syndrome is caused by trisomy of chromosome 21. To date, a multiplicity of mouse
models with Down-syndrome-related features has been developed to understand this …

GnRH replacement rescues cognition in Down syndrome

M Manfredi-Lozano, V Leysen, M Adamo, I Paiva… - Science, 2022 - science.org
At the present time, no viable treatment exists for cognitive and olfactory deficits in Down
syndrome (DS). We show in a DS model (Ts65Dn mice) that these progressive …

Down syndrome and Alzheimer's disease: Common pathways, common goals

D Hartley, T Blumenthal, M Carrillo, G DiPaolo… - Alzheimer's & …, 2015 - Elsevier
Abstract In the United States, estimates indicate there are between 250,000 and 400,000
individuals with Down syndrome (DS), and nearly all will develop Alzheimer's disease (AD) …

Interferon signaling promotes tolerance to chromosomal instability during metastatic evolution in renal cancer

L Perelli, F Carbone, L Zhang, JK Huang, C Le… - Nature Cancer, 2023 - nature.com
Molecular routes to metastatic dissemination are critical determinants of aggressive cancers.
Through in vivo CRISPR–Cas9 genome editing, we generated somatic mosaic genetically …

A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21

Y Kazuki, FJ Gao, Y Li, AJ Moyer, B Devenney… - Elife, 2020 - elifesciences.org
Animal models of Down syndrome (DS), trisomic for human chromosome 21 (HSA21) genes
or orthologs, provide insights into better understanding and treatment options. The only …

New approaches to studying early brain development in Down syndrome

AA Baburamani, PA Patkee, T Arichi… - … medicine & child …, 2019 - Wiley Online Library
Down syndrome is the most common genetic developmental disorder in humans and is
caused by partial or complete triplication of human chromosome 21 (trisomy 21). It is a …

Discovery of a small molecule drug candidate for selective NKCC1 inhibition in brain disorders

A Savardi, M Borgogno, R Narducci, G La Sala… - Chem, 2020 - cell.com
Aberrant expression ratio of Cl− transporters, NKCC1 and KCC2, is implicated in several
brain conditions. NKCC1 inhibition by the FDA-approved diuretic drug, bumetanide, rescues …

Intranasal administration of kyccsrk peptide rescues brain insulin signaling activation and reduces alzheimer's disease-like neuropathology in a mouse model for …

A Tramutola, S Lanzillotta, G Aceto, S Pagnotta… - Antioxidants, 2023 - mdpi.com
Down syndrome (DS) is the most frequent genetic cause of intellectual disability and is
strongly associated with Alzheimer's disease (AD). Brain insulin resistance greatly …

Usp16 contributes to somatic stem-cell defects in Down's syndrome

M Adorno, S Sikandar, SS Mitra, A Kuo… - Nature, 2013 - nature.com
Down's syndrome results from full or partial trisomy of chromosome 21. However, the
consequences of the underlying gene–dosage imbalance on adult tissues remain poorly …