Alzheimer's disease associated with Down syndrome: a genetic form of dementia

J Fortea, SH Zaman, S Hartley, MS Rafii… - The Lancet …, 2021 - thelancet.com
Adults with Down syndrome develop the neuropathological hallmarks of Alzheimer's
disease and are at very high risk of developing early-onset dementia, which is now the …

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 …

Undulating changes in human plasma proteome profiles across the lifespan

B Lehallier, D Gate, N Schaum, T Nanasi, SE Lee… - Nature medicine, 2019 - nature.com
Aging is a predominant risk factor for several chronic diseases that limit healthspan.
Mechanisms of aging are thus increasingly recognized as potential therapeutic targets …

POSREG: proteomic signature discovered by simultaneously optimizing its reproducibility and generalizability

F Li, Y Zhou, Y Zhang, J Yin, Y Qiu… - Briefings in …, 2022 - academic.oup.com
Mass spectrometry-based proteomic technique has become indispensable in current
exploration of complex and dynamic biological processes. Instrument development has …

Blood and immune development in human fetal bone marrow and Down syndrome

L Jardine, S Webb, I Goh, M Quiroga Londoño… - Nature, 2021 - nature.com
Haematopoiesis in the bone marrow (BM) maintains blood and immune cell production
throughout postnatal life. Haematopoiesis first emerges in human BM at 11–12 weeks after …

[HTML][HTML] Microbiota-driven tonic interferon signals in lung stromal cells protect from influenza virus infection

KC Bradley, K Finsterbusch, D Schnepf, S Crotta… - Cell reports, 2019 - cell.com
Type I interferon (IFNα/β) pathways are fine-tuned to elicit antiviral protection while
minimizing immunopathology; however, the initiating stimuli, target tissues, and underlying …

[HTML][HTML] Non-IgE-mediated gastrointestinal food allergies in children: an update

R Labrosse, F Graham, JC Caubet - Nutrients, 2020 - mdpi.com
Non-immunoglobulin E-mediated gastrointestinal food allergic disorders (non-IgE-GI-FA)
include food protein-induced enterocolitis syndrome (FPIES), food protein-induced …

[HTML][HTML] Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model

KA Waugh, R Minter, J Baxter, C Chi, MD Galbraith… - Nature …, 2023 - nature.com
Down syndrome (DS), the genetic condition caused by trisomy 21, is characterized by
variable cognitive impairment, immune dysregulation, dysmorphogenesis and increased …

Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition

MD Galbraith, AL Rachubinski, KP Smith, P Araya… - Science …, 2023 - science.org
Individuals with Down syndrome (DS) display chronic hyperactivation of interferon signaling.
However, the clinical impacts of interferon hyperactivity in DS are ill-defined. Here, we …

[HTML][HTML] Individuals with Down syndrome hospitalized with COVID-19 have more severe disease

L Malle, C Gao, C Hur, HQ Truong, NM Bouvier… - Genetics in …, 2021 - nature.com
Purpose Rare genetic conditions like Down syndrome (DS) are historically understudied.
Infection is a leading cause of mortality in DS, along with cardiac anomalies. Currently, it is …