Cellular barcoding to decipher clonal dynamics in disease

VG Sankaran, JS Weissman, LI Zon - Science, 2022 - science.org
Cellular barcodes are distinct DNA sequences that enable one to track specific cells across
time or space. Recent advances in our ability to detect natural or synthetic cellular barcodes …

Mosaicism for trisomy 21: a review

P Papavassiliou, C Charalsawadi… - American Journal of …, 2015 - Wiley Online Library
The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down
syndrome are the focus of this review. The primary topics discussed in this overview of the …

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 …

The human periconceptional maternal-embryonic space in health and disease

I Moreno, A Capalbo, A Mas… - Physiological …, 2023 - journals.physiology.org
Pregnancy is established during the periconceptional period as a continuum beginning with
blastocyst attachment to the endometrial epithelial surface followed by embryo invasion and …

Lifespan analysis of brain development, gene expression and behavioral phenotypes in the Ts1Cje, Ts65Dn and Dp (16) 1/Yey mouse models of Down syndrome

NM Aziz, F Guedj, JLA Pennings… - Disease models & …, 2018 - journals.biologists.com
Down syndrome (DS) results from triplication of human chromosome 21. Neuropathological
hallmarks of DS include atypical central nervous system development that manifests …

Survival among people with Down syndrome: a nationwide population-based study in Denmark

JL Zhu, H Hasle, A Correa, D Schendel… - Genetics in …, 2013 - nature.com
Purpose: Several studies have shown substantially longer survival among persons with
Down syndrome in recent decades. We examined survival patterns among Danish persons …

Mouse models of aneuploidy to understand chromosome disorders

J Tosh, V Tybulewicz, EMC Fisher - Mammalian Genome, 2022 - Springer
An organism or cell carrying a number of chromosomes that is not a multiple of the haploid
count is in a state of aneuploidy. This condition results in significant changes in the level of …

Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

TO Yahaya, EO Oladele, D Anyebe, C Obi… - Bulletin of the National …, 2021 - Springer
Background Much interest has not been placed on the role of chromosomal abnormalities in
the pathogenesis and rising prevalence of infertility in recent times. This review was …

Longitudinal neuroanatomical and behavioral analyses show phenotypic drift and variability in the Ts65Dn mouse model of Down syndrome

PR Shaw, JA Klein, NM Aziz… - Disease models & …, 2020 - journals.biologists.com
Mouse models of Down syndrome (DS) have been invaluable tools for advancing
knowledge of the underlying mechanisms of intellectual disability in people with DS. The Ts …

Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China

WW Zhao, M Wu, F Chen, S Jiang, H Su, J Liang… - PLoS …, 2015 - journals.plos.org
Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births,
making this type of rearrangement the most common structural chromosomal abnormalities …