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) …

CNS disease associated with enhanced type I interferon signalling

YJ Crow - The Lancet Neurology, 2024 - thelancet.com
The ability to mount an interferon-mediated innate immune response is essential in
protection against neurotropic viruses, but antiviral type I interferons also have neurotoxic …

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 …

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 …

Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome

MG Donovan, AL Rachubinski, KP Smith, P Araya… - Cell reports, 2024 - cell.com
Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), is characterized by
delayed neurodevelopment, accelerated aging, and increased risk of many co-occurring …

Integrated analysis of immunometabolic interactions in Down syndrome

LA Gillenwater, MD Galbraith, AL Rachubinski… - Science …, 2024 - science.org
Down syndrome (DS), caused by trisomy 21 (T21), results in immune and metabolic
dysregulation. People with DS experience co-occurring conditions at higher rates than the …

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

SP Barwe, EA Kolb, A Gopalakrishnapillai - Blood Reviews, 2024 - 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 …

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 …

A Pathway-Level Information ExtractoR (PLIER) framework to gain mechanistic insights into obesity in Down syndrome

S Nandi, Y Zhu, LA Gillenwater… - … 2025: Proceedings of …, 2024 - World Scientific
Down syndrome (DS), caused by the triplication of chromosome 21 (T21), is a prevalent
genetic disorder with a higher incidence of obesity. Traditional approaches have struggled …

A human fetal cerebellar map of the late second trimester reveals developmental molecular characteristics and abnormality in trisomy 21

H Yu, Y Liu, F Xu, Y Fu, M Yang, L Ding, Y Wu, F Tang… - Cell Reports, 2024 - cell.com
Our understanding of human fetal cerebellum development during the late second trimester,
a critical period for the generation of astrocytes, oligodendrocytes, and unipolar brush cells …