Down syndrome and the complexity of genome dosage imbalance
SE Antonarakis - Nature Reviews Genetics, 2017 - nature.com
Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …
gain dosage imbalances, including microduplications. The functional genomic exploration of …
The GABAergic hypothesis for cognitive disabilities in down syndrome
A Contestabile, S Magara, L Cancedda - Frontiers in cellular …, 2017 - frontiersin.org
Down syndrome (DS) is a genetic disorder caused by the presence of a third copy of
chromosome 21. DS affects multiple organs, but it invariably results in altered brain …
chromosome 21. DS affects multiple organs, but it invariably results in altered brain …
Timing of therapies for Down syndrome: the sooner, the better
Intellectual disability (ID) is the unavoidable hallmark of Down syndrome (DS), with a heavy
impact on public health. Accumulating evidence shows that DS is characterized by …
impact on public health. Accumulating evidence shows that DS is characterized by …
The association of antidepressant drug usage with cognitive impairment or dementia, including Alzheimer disease: A systematic review and meta‐analysis
Objective To determine if antidepressant drug usage is associated with cognitive impairment
or dementia, including Alzheimer disease (AD). Method We conducted a systematic search …
or dementia, including Alzheimer disease (AD). Method We conducted a systematic search …
Down syndrome: Neurobiological alterations and therapeutic targets
Down syndrome (DS) is a genetic disease that occurs due to an aneuploidy of human
chromosome 21. Trisomy of chromosome 21 is a primary genetic cause of developmental …
chromosome 21. Trisomy of chromosome 21 is a primary genetic cause of developmental …
HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder
S Trazzi, C Fuchs, R Viggiano… - Human molecular …, 2016 - academic.oup.com
Abstract Cyclin-dependent kinase-like 5 (CDKL5) is a Ser/Thr protein kinase predominantly
expressed in the brain. Mutations of the CDKL5 gene lead to CDKL5 disorder, a …
expressed in the brain. Mutations of the CDKL5 gene lead to CDKL5 disorder, a …
Luteolin treatment ameliorates brain development and behavioral performance in a mouse model of CDKL5 deficiency disorder
M Tassinari, N Mottolese, G Galvani, D Ferrara… - International Journal of …, 2022 - mdpi.com
CDKL5 deficiency disorder (CDD), a rare and severe neurodevelopmental disease caused
by mutations in the X-linked CDKL 5 gene, is characterized by early-onset epilepsy …
by mutations in the X-linked CDKL 5 gene, is characterized by early-onset epilepsy …
Aerobic exercise and a BDNF-mimetic therapy rescue learning and memory in a mouse model of Down syndrome
Down syndrome (DS) is caused by the triplication of human chromosome 21 and represents
the most frequent genetic cause of intellectual disability. The trisomic Ts65Dn mouse model …
the most frequent genetic cause of intellectual disability. The trisomic Ts65Dn mouse model …
Short-and long-term effects of neonatal pharmacotherapy with epigallocatechin-3-gallate on hippocampal development in the Ts65Dn mouse model of Down …
Cognitive disability is an unavoidable feature of Down syndrome (DS), a genetic disorder
due to the triplication of human chromosome 21. DS is associated with alterations of …
due to the triplication of human chromosome 21. DS is associated with alterations of …
Prenatal pharmacotherapy rescues brain development in a Down's syndrome mouse model
Intellectual impairment is a strongly disabling feature of Down's syndrome, a genetic
disorder of high prevalence (1 in 700–1000 live births) caused by trisomy of chromosome …
disorder of high prevalence (1 in 700–1000 live births) caused by trisomy of chromosome …