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 …

Effects of aneuploidy on cell behaviour and function

R Li, J Zhu - Nature Reviews Molecular Cell Biology, 2022 - nature.com
Aneuploidy, a genomic alternation characterized by deviations in the copy number of
chromosomes, affects organisms from early development through to aging. Although it is a …

Deep immune phenotyping reveals similarities between aging, Down syndrome, and autoimmunity

K Lambert, KG Moo, A Arnett, G Goel, A Hu… - Science translational …, 2022 - science.org
Individuals with Down syndrome show cellular and clinical features of dysregulated aging of
the immune system, including a shift from naïve to memory T cells and increased incidence …

The genomic landscape of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21

Q Gao, SL Ryan, I Iacobucci, PS Ghate, RE Cranston… - Blood, 2023 - ashpublications.org
Intrachromosomal amplification of chromosome 21 defines a subtype of high-risk childhood
acute lymphoblastic leukemia (iAMP21-ALL) characterized by copy number changes and …

Canadian cannabis consumption and patterns of congenital anomalies: an ecological geospatial analysis

AS Reece, GK Hulse - Journal of addiction medicine, 2020 - journals.lww.com
Objectives: Cannabis is a known teratogen. Data availability addressing both major
congenital anomalies and cannabis use allowed us to explore their geospatial relationships …

Transcriptional repression by a secondary DNA binding surface of DNA topoisomerase I safeguards against hypertranscription

MS Lau, Z Hu, X Zhao, YS Tan, J Liu, H Huang… - Nature …, 2023 - nature.com
Regulation of global transcription output is important for normal development and disease,
but little is known about the mechanisms involved. DNA topoisomerase I (TOP1) is an …

Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndrome

AP Laurent, RS Kotecha, S Malinge - Leukemia, 2020 - nature.com
Structural and numerical alterations of chromosome 21 are extremely common in
hematological malignancies. While the functional impact of chimeric transcripts from fused …

Chromatin accessibility promotes hematopoietic and leukemia stem cell activity

L Cabal-Hierro, P van Galen, MA Prado… - Nature …, 2020 - nature.com
Chromatin organization is a highly orchestrated process that influences gene expression, in
part by modulating access of regulatory factors to DNA and nucleosomes. Here, we report …

Network analysis of Down syndrome and SARS-CoV-2 identifies risk and protective factors for COVID-19

I De Toma, M Dierssen - Scientific reports, 2021 - nature.com
SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how
vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID …

[HTML][HTML] Down syndrome and leukemia: from basic mechanisms to clinical advances

A Baruchel, JP Bourquin, J Crispino, S Cuartero… - …, 2023 - ncbi.nlm.nih.gov
Children with Down syndrome (DS, trisomy 21) are at a significantly higher risk of
developing acute leukemia compared to the overall population. Many studies investigating …