Results 71 to 80 of about 1,226,398 (302)

Down Syndrome and COVID-19: A Perfect Storm?

open access: yesCell 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

Rett Syndrome [PDF]

open access: yes, 2009
Rett syndrome is a thief! It robs little girls of their projected life. It lulls their families into a false sense of security while their little girls develop normally for 6 to 18 months.
Cox, Deborah Ann
core  

Assessing Specific Cognitive Deficits Associated with Dementia in Older Adults with Down Syndrome: Use and Validity of the Arizona Cognitive Test Battery (ACTB) [PDF]

open access: yes, 2013
BACKGROUND: Down syndrome is associated with specific cognitive deficits. Alongside this, older adults with Down syndrome are a high risk group for dementia. The Arizona Cognitive Test Battery (ACTB), a cognitive assessment battery specifically developed
Amanda Sinai   +50 more
core   +3 more sources

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

open access: yesFEBS 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   +3 more
wiley   +1 more source

A Right to Choose?: Sex Selection in the International Context [PDF]

open access: yes, 2007
While there is some debate among doctors, ethicists, and the general public about the level of medical necessity that should justify a sex-selection procedure, most accept that sex selection for medical reasons is beyond ethical reproach, and in some ...
Bumgarner, Ashley
core   +2 more sources

Cara Pembelajaran Anak Down Syndrome di Kelas B1 Tk Luar Biasa C Dharma Asih [PDF]

open access: yes, 2015
This research aimed to describe how learning Down syndrome children in the kindergarten class B1 Exceptional C Dharma Asih Pontianak. The method used is descriptive method with qualitative approach.
Farida, I. (Ida)   +2 more
core  

The newfound relationship between extrachromosomal DNAs and excised signal circles

open access: yesFEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

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

open access: yesAlzheimer’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   +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

open access: yesFEBS 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   +2 more
wiley   +1 more source

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

open access: yesiScience
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   +15 more
doaj   +1 more source

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