Results 41 to 50 of about 568,561 (211)

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

iScience, 2023
Summary: 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.
Congwu Chi, Walter E. Knight, Andrew S. Riching, Zhen Zhang, Roubina Tatavosian, Yonghua Zhuang, Radu Moldovan, Angela L. Rachubinski, Dexiang Gao, Hongyan Xu, Joaquin M. Espinosa, Kunhua Song   +11 more
doaj   +1 more source

Down Syndrome and Parity

Public Health Genomics, 1999
<i>Objective:</i> To investigate the effect of parity on Down syndrome (DS). <i>Methods:</i> The study was conducted on data from Northeast Italy (NEI) (1981–1996) and Sicily (ISMAC) (1991–1996) Congenital Malformation Registries.
CLEMENTI, MAURIZIO, Bianca S, Benedicenti F, Tenconi R, Working Group on Down Syndrome   +4 more
openaire   +4 more sources

Trisomy 21 consistently activates the interferon response

eLife, 2016
Although it is clear that trisomy 21 causes Down syndrome, the molecular events acting downstream of the trisomy remain ill defined. Using complementary genomics analyses, we identified the interferon pathway as the major signaling cascade consistently ...
Kelly D Sullivan, Hannah C Lewis, Amanda A Hill, Ahwan Pandey, Leisa P Jackson, Joseph M Cabral, Keith P Smith, L Alexander Liggett, Eliana B Gomez, Matthew D Galbraith, James DeGregori, Joaquín M Espinosa   +11 more
doaj   +1 more source

Down Syndrome and COVID-19: A Perfect Storm?

Cell Reports Medicine, 2020
People with Down syndrome show signs of chronic immune dysregulation, including a higher prevalence of autoimmune disorders, increased rates of hospitalization during respiratory viral infections, and higher mortality rates from pneumonia and sepsis.
Joaquin M. Espinosa
doaj   +1 more source

JAK inhibition decreases the autoimmune burden in Down syndrome

eLife
Background: Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections. Although it is well established
Angela L Rachubinski, Elizabeth Wallace, Emily Gurnee, Belinda A Enriquez-Estrada, Kayleigh R Worek, Keith P Smith, Paula Araya, Katherine A Waugh, Ross E Granrath, Eleanor Britton, Hannah R Lyford, Micah G Donovan, Neetha Paul Eduthan, Amanda A Hill, Barry Martin, Kelly D Sullivan, Lina Patel, Deborah J Fidler, Matthew D Galbraith, Cory A Dunnick, David A Norris, Joaquín M Espinosa   +21 more
doaj   +1 more source

Monoaminergic impairment in Down syndrome with Alzheimer's disease compared to early‐onset Alzheimer's disease

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018
Introduction People with Down syndrome (DS) are at high risk for Alzheimer's disease (AD). Defects in monoamine neurotransmitter systems are implicated in DS and AD but have not been comprehensively studied in DS.
Alain D. Dekker, Yannick Vermeiren, Maria Carmona‐Iragui, Bessy Benejam, Laura Videla, Ellen Gelpi, Tony Aerts, Debby Van Dam, Susana Fernández, Alberto Lleó, Sebastian Videla, Anne Sieben, Jean‐Jacques Martin, Netherlands Brain Bank, Rafael Blesa, Juan Fortea, Peter P. De Deyn   +16 more
doaj   +1 more source

Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase

Alzheimer’s Research & Therapy, 2020
Background Down syndrome (DS) is the most common genetic cause of Alzheimer’s disease (AD), but diagnosis of AD in DS is challenging due to the intellectual disability which accompanies DS.
David Mengel, Wen Liu, Robert J. Glynn, Dennis J. Selkoe, Andre Strydom, Florence Lai, H. Diana Rosas, Amy Torres, Vasiliki Patsiogiannis, Brian Skotko, Dominic M. Walsh   +10 more
doaj   +1 more source

Down's Syndrome [PDF]

BMJ, 1970
Measurement of the Facies A Study in Down's Syndrome. By Michael Joseph and Carol Dawbarn. (SIMP Research Monograph, No. 3.) Pp. xii + 114. (Spastics International Medical Publications in association with Heinemann (Medical): London, 1970.) 50s; $7.50.
openaire   +4 more sources

Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model

iScience
Summary: Individuals with Down syndrome (DS), caused by trisomy of chromosome 21 (chr21, T21), are strongly predisposed to Alzheimer’s disease (AD), due to triplication of the APP gene, with ∼100% penetrance of AD brain pathology by age 40 and variable ...
Paula Araya, Brian Niemeyer, Kyndal Schade, Lauren N. Dunn, Katherine Waugh, Nicolas Busquet, Connie Brindley, Chrisstopher Brown, Caitlin Winkler, Hannah R. Lyford, Eleanor C. Britton, Michael Ludwig, Julie Siegenthaler, Matthew D. Galbraith, Joaquin M. Espinosa, Kelly D. Sullivan   +15 more
doaj   +1 more source

Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders

Frontiers in Genetics, 2019
Evidence from multiple laboratories has accumulated to show that mosaic neuronal aneuploidy and consequent apoptosis characterizes and may underlie neuronal loss in many neurodegenerative diseases, particularly Alzheimer’s disease and frontotemporal ...
Huntington Potter, Huntington Potter, Heidi J. Chial, Heidi J. Chial, Julbert Caneus, Mihret Elos, Mihret Elos, Nina Elder, Nina Elder, Sergiy Borysov, Antoneta Granic, Antoneta Granic, Antoneta Granic   +12 more
doaj   +1 more source