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) …
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 …
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 …
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 …
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
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 …
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 …
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
Down syndrome (DS) is a common genetic condition caused by trisomy of chromosome 21.
Among their complex clinical features, including musculoskeletal, neurological, and …
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 …
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 …
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 …
susceptible to SARS-CoV-2 infection and have higher rates of hospitalization and mortality …