Results 71 to 80 of about 609,367 (314)

Web access experiences of people with Down syndrome

, 2022
Social integration is now the norm for many children and adults with Down syndrome. Many persons with Down syndrome are interested in being active members of society.
Rodríguez Baena, Luis, González-Crespo, Rubén, Alonso-Virgós, Lucía, Pascual Espada, Jordán   +3 more
core  

On the origin of trisomy 21 Down syndrome [PDF]

, 2008
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Nikos Papadogiannakis, Maj A Hultén, Papadogiannakis, Nikos, Westgren, Magnus, Jonsson, Anna Maria, Tankimanova, Maira, Patel, Suketu D., Iwarsson, Erik, Maira Tankimanova, Anna Jonsson, Magnus Westgren, Erik Iwarsson, Hultén, Maj A., Suketu D Patel   +13 more
core   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +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

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Another side to their story: including people with Down syndrome in an initial exploration of the social fabric of their emotional well-being [PDF]

, 2016
The project ran as part of the Community Academic Research Links CARL programme in University College Cork. Down Syndrome Cork were the community organisation. They provide support and services to adults and children with Down syndrome and their families
Dunphy, Sarah
core  

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

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

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

“Down Syndrome is Not a Curse”: parent Perspectives on the Medicalization of Down Syndrome

AJOB Empirical Bioethics
Potential clinical interventions to mitigate or eliminate symptoms of Down syndrome (DS) continue to be an active area of pre-clinical and clinical research. However, views of members of the DS community have yet to be fully explored.We conducted a survey with parents/caregivers of people with DS (n = 532) to explore interest in potential therapeutic ...
Kirsten A. Riggan, Marsha Michie, Megan Allyse   +2 more
openaire   +2 more sources