Mouse models of Down syndrome: gene content and consequences

M Gupta, AR Dhanasekaran, KJ Gardiner - Mammalian Genome, 2016 - Springer
Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), is challenging to model in
mice. Not only is it a contiguous gene syndrome spanning 35 Mb of the long arm of Hsa21 …

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 …

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 …

[PDF][PDF] Ts66Yah, a mouse model of Down syndrome with improved construct and face validity

A Duchon, M del Mar Muñiz Moreno… - Disease Models & …, 2022 - journals.biologists.com
Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21). The
understanding of genotype–phenotype relationships, the identification of driver genes and …

Partial BACE1 reduction in a Down syndrome mouse model blocks Alzheimer-related endosomal anomalies and cholinergic neurodegeneration: role of APP-CTF

Y Jiang, A Rigoglioso, CM Peterhoff, M Pawlik… - Neurobiology of …, 2016 - Elsevier
Abstract β-amyloid precursor protein (APP) and amyloid beta peptide (Aβ) are strongly
implicated in Alzheimer's disease (AD) pathogenesis, although recent evidence has linked …

Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp (16) 1Yey and Ts65Dn mice

JM Starbuck, T Dutka, TS Ratliff… - American Journal of …, 2014 - Wiley Online Library
Trisomy 21 results in gene‐dosage imbalance during embryogenesis and throughout life,
ultimately causing multiple anomalies that contribute to the clinical manifestations of Down …

Modeling Down syndrome in animals from the early stage to the 4.0 models and next

MMM Moreno, V Brault, MC Birling, G Pavlovic… - Progress in brain …, 2020 - Elsevier
The genotype–phenotype relationship and the physiopathology of Down Syndrome (DS)
have been explored in the last 20 years with more and more relevant mouse models. From …

Sex-specific trisomic Dyrk1a-related skeletal phenotypes during development in a Down syndrome model

JM LaCombe, K Sloan, JR Thomas… - Disease Models & …, 2024 - journals.biologists.com
Skeletal insufficiency affects all individuals with Down syndrome (DS) or trisomy 21 and may
alter bone strength throughout development due to a reduced period of bone formation and …

Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome

AJ Moyer, FX Fernandez, Y Li… - Disease Models & …, 2023 - journals.biologists.com
Trisomy 21 and mutations in the Sonic hedgehog (SHH) signaling pathway cause
overlapping and pleiotropic phenotypes including cerebellar hypoplasia, craniofacial …