Human life within a narrow range: The lethal ups and downs of type I interferons

YJ Crow, JL Casanova - Science Immunology, 2024 - science.org
The past 20 years have seen the definition of human monogenic disorders and their
autoimmune phenocopies underlying either defective or enhanced type I interferon (IFN) …

Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome

E Lana-Elola, R Aoidi, M Llorian, D Gibbins… - Science translational …, 2024 - science.org
Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21). DS is a gene
dosage disorder that results in multiple phenotypes including congenital heart defects. This …

Down syndrome and leukemia: An insight into the disease biology and current treatment options

SP Barwe, EA Kolb, A Gopalakrishnapillai - Blood Reviews, 2023 - Elsevier
Children with Down syndrome (DS) have a 10-to 20-fold greater predisposition to develop
acute leukemia compared to the general population, with a skew towards myeloid leukemia …

Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome

MG Donovan, NP Eduthan, KP Smith, EC Britton… - Nature …, 2024 - nature.com
Individuals with Down syndrome, the genetic condition caused by trisomy 21, exhibit strong
inter-individual variability in terms of developmental phenotypes and diagnosis of co …

Interferon hyperactivity impairs cardiogenesis in Down syndrome via downregulation of canonical Wnt signaling

C Chi, WE Knight, AS Riching, Z Zhang, R Tatavosian… - Iscience, 2023 - cell.com
Congenital heart defects (CHDs) are frequent in children with Down syndrome (DS), caused
by trisomy of chromosome 21. However, the underlying mechanisms are poorly understood …

Lung and heart biology of the Dp16 mouse model of Down syndrome: implications for studying cardiopulmonary disease

KL Colvin, K Nguyen, KL Boncella, DM Goodman… - Genes, 2023 - mdpi.com
(1) Background: We sought to investigate the baseline lung and heart biology of the Dp16
mouse model of Down syndrome (DS) as a prelude to the investigation of recurrent …

Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer's disease fold

U Ghosh, E Tse, H Yang, M Shi, CD Caro… - Acta Neuropathologica …, 2024 - Springer
Down syndrome (DS) is a common genetic condition caused by trisomy of chromosome 21.
Among their complex clinical features, including musculoskeletal, neurological, and …

Type-I-interferon-responsive microglia shape cortical development and behavior

CC Escoubas, LC Dorman, PT Nguyen… - Cell, 2024 - cell.com
Microglia are brain-resident macrophages that shape neural circuit development and are
implicated in neurodevelopmental diseases. Multiple microglial transcriptional states have …

Trisomy silencing by XIST: translational prospects and challenges

K Gupta, JT Czerminski, JB Lawrence - Human Genetics, 2024 - Springer
XIST RNA is heavily studied for its role in fundamental epigenetics and X-chromosome
inactivation; however, the translational potential of this singular RNA has been much less …

SARS-CoV-2 Infection Causes Heightened Disease Severity and Mortality in a Mouse Model of Down Syndrome

RD Pechous, PA Malaviarachchi, Z Xing, A Douglas… - Biomedicines, 2024 - mdpi.com
Recent epidemiological studies suggest that individuals with Down syndrome are more
susceptible to SARS-CoV-2 infection and have higher rates of hospitalization and mortality …