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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) …
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 …
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
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 …
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 …
Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome
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 …
delayed neurodevelopment, accelerated aging, and increased risk of many co-occurring …
Integrated analysis of immunometabolic interactions in Down syndrome
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 …
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 …
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
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 …
A Pathway-Level Information ExtractoR (PLIER) framework to gain mechanistic insights into obesity in Down syndrome
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 …
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
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 …
a critical period for the generation of astrocytes, oligodendrocytes, and unipolar brush cells …