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 …
Transcriptome profiling in human diseases: new advances and perspectives
In the last decades, transcriptome profiling has been one of the most utilized approaches to
investigate human diseases at the molecular level. Through expression studies, many …
investigate human diseases at the molecular level. Through expression studies, many …
Accelerated epigenetic aging in Down syndrome
Down Syndrome (DS) entails an increased risk of many chronic diseases that are typically
associated with older age. The clinical manifestations of accelerated aging suggest that …
associated with older age. The clinical manifestations of accelerated aging suggest that …
Trisomy 21 consistently activates the interferon response
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 …
downstream of the trisomy remain ill defined. Using complementary genomics analyses, we …
Domains of genome-wide gene expression dysregulation in Down's syndrome
Trisomy 21 is the most frequent genetic cause of cognitive impairment. To assess the
perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic …
perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic …
RNA-Seq and human complex diseases: recent accomplishments and future perspectives
The availability of the human genome sequence has allowed identification of disease-
causing mutations in many Mendelian disorders, and detection of significant associations of …
causing mutations in many Mendelian disorders, and detection of significant associations of …
Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome
Clinical manifestations typical of mitochondrial diseases are often present in various genetic
syndromes associated with intellectual disability, a condition leading to deficit in cognitive …
syndromes associated with intellectual disability, a condition leading to deficit in cognitive …
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 …
Next‐generation sequencing: ready for the clinics?
AN Desai, A Jere - Clinical genetics, 2012 - Wiley Online Library
Desai AN, Jere A. Next‐generation sequencing: ready for the clinics? Next‐generation
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …
Trisomy of a Down syndrome critical region globally amplifies transcription via HMGN1 overexpression
Summary Down syndrome (DS, trisomy 21) is associated with developmental abnormalities
and increased leukemia risk. To reconcile chromatin alterations with transcriptome changes …
and increased leukemia risk. To reconcile chromatin alterations with transcriptome changes …