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 …

Down syndrome and the complexity of genome dosage imbalance

SE Antonarakis - Nature Reviews Genetics, 2017 - nature.com
Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …

[HTML][HTML] Disease-specific induced pluripotent stem cells

IH Park, N Arora, H Huo, N Maherali, T Ahfeldt… - cell, 2008 - cell.com
Tissue culture of immortal cell strains from diseased patients is an invaluable resource for
medical research but is largely limited to tumor cell lines or transformed derivatives of native …

Altered cell and RNA isoform diversity in aging Down syndrome brains

CR Palmer, CS Liu, WJ Romanow… - Proceedings of the …, 2021 - National Acad Sciences
Down syndrome (DS), trisomy of human chromosome 21 (HSA21), is characterized by
lifelong cognitive impairments and the development of the neuropathological hallmarks of …

Down syndrome: the brain in trisomic mode

M Dierssen - Nature Reviews Neuroscience, 2012 - nature.com
Down syndrome is the most common form of intellectual disability and results from one of the
most complex genetic perturbations that is compatible with survival, trisomy 21. The study of …

Atypical aging in Down syndrome

WB Zigman - Developmental disabilities research reviews, 2013 - Wiley Online Library
At present, there may be over 210,000 people with Down syndrome (DS) over the age of 55
in the United States (US) who have significant needs for augmented services due to …

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21

JR Arron, MM Winslow, A Polleri, CP Chang, H Wu… - Nature, 2006 - nature.com
Trisomy 21 results in Down's syndrome, but little is known about how a 1.5-fold increase in
gene dosage produces the pleiotropic phenotypes of Down's syndrome. Here we report that …

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

JO Korbel, T Tirosh-Wagner… - Proceedings of the …, 2009 - National Acad Sciences
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex
clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to …

Molecular genetic analysis of Down syndrome

D Patterson - Human genetics, 2009 - Springer
Down syndrome (DS) is caused by trisomy of all or part of human chromosome 21 (HSA21)
and is the most common genetic cause of significant intellectual disability. In addition to …

Transcriptional consequences of aneuploidy

JM Sheltzer, EM Torres… - Proceedings of the …, 2012 - National Acad Sciences
Aneuploidy, or an aberrant karyotype, results in developmental disabilities and has been
implicated in tumorigenesis. However, the causes of aneuploidy-induced phenotypes and …