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Transcription dosage compensation does not occur in Down syndrome
BackgroundThe increase in DNA copy number in Down syndrome (DS; caused by trisomy 21) has led to the DNA dosage hypothesis, which posits that the...
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Trisomy 21-driven metabolite alterations are linked to cellular injuries in Down syndrome
Down syndrome (DS) arises from a genetic anomaly characterized by an extra copy of chromosome 21 (exCh21). Despite high incidence of congenital...
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Cryo-EM structures of amyloid-β and tau filaments in Down syndrome
Adult individuals with Down syndrome (DS) develop Alzheimer disease (AD). Whether there is a difference between AD in DS and AD regarding the...
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Analysis of Specific Serum Markers for Early Prediction of Alzheimer's Disease in Adolescents with Down Syndrome
Down syndrome (DS) is accompanied by cognitive manifestations resulting from full or partial extra chromosome 21. Amyloid precursor protein...
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Transcriptional profiling upon T cell stimulation reveals down-regulation of inflammatory pathways in T and B cells in SLE versus Sjögren’s syndrome
Systemic lupus erythematosus (SLE) and primary Sjögren’s syndrome (pSS) share clinical as well as pathogenic similarities. Although previous studies...
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Embryonic organizer formation disorder leads to multiorgan dysplasia in Down syndrome
Despite the high prevalence of Down syndrome (DS) and early identification of the cause (trisomy 21), its molecular pathogenesis has been poorly...
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The role of the mitochondrial trans-sulfuration in cerebro-cardio renal dysfunction during trisomy down syndrome
One in 700 children is born with the down syndrome (DS). In DS, there is an extra copy of X chromosome 21 (trisomy). Interestingly, the chromosome 21...
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Generation of Urine-Derived Induced Pluripotent Stem Cells and Cerebral Organoids for Modeling Down Syndrome
Down syndrome (DS, or trisomy 21, T21), is the most common genetic cause of intellectual disability. Alterations in the complex process of cerebral...
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Shaking up the silence: consequences of HMGN1 antagonizing PRC2 in the Down syndrome brain
Intellectual disability is a well-known hallmark of Down Syndrome (DS) that results from the triplication of the critical region of human chromosome...
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Prenatal treatment with preimplantation factor improves early postnatal neurogenesis and cognitive impairments in a mouse model of Down syndrome
Down syndrome (DS) is a genetic disease characterized by a supernumerary chromosome 21. Intellectual deficiency (ID) is one of the most prominent...
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Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome
BackgroundGrowing evidence has suggested that Type I Interferon (I-IFN) plays a potential role in the pathogenesis of Down Syndrome (DS). This work...
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Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion
Aneuploidies, such as Down syndrome (DS), are the leading cause of pregnancy loss. Abnormalities in aurora kinase proteins result in genomic...
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Single-nucleus RNA sequencing reveals cell type-specific transcriptome alterations of Down syndrome hippocampus using the Dp16 mouse model
BackgroundDown syndrome (DS), the most frequently occurring human chromosomal disorder, is caused by trisomy 21. The exact molecular effects of...
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Transcriptomic analysis of stem cells from chorionic villi uncovers the impact of chromosomes 2, 6 and 22 in the clinical manifestations of Down syndrome
BackgroundDown syndrome (DS) clinical multisystem condition is generally considered the result of a genetic imbalance generated by the extra copy of...
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Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte
The aim of the present work was to explore the intriguing association of maternal folate regulator gene polymorphisms and mutations with the...
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Migration deficits of the neural crest caused by CXADR triplication in a human Down syndrome stem cell model
Down syndrome (DS) is the most common chromosomal abnormality in live-born infants and is caused by trisomy of chromosome 21. Most individuals with...
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