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 …
Down syndrome: the brain in trisomic mode
M Dierssen - Nature Reviews Neuroscience, 2012 - nature.com
Down syndrome is the most common form of intellectual disability and results from one of the
most complex genetic perturbations that is compatible with survival, trisomy 21. The study of …
most complex genetic perturbations that is compatible with survival, trisomy 21. The study of …
[HTML][HTML] Mettl1/Wdr4-mediated m7G tRNA methylome is required for normal mRNA translation and embryonic stem cell self-renewal and differentiation
Summary tRNAs are subject to numerous modifications, including methylation. Mutations in
the human N 7-methylguanosine (m 7 G) methyltransferase complex METTL1/WDR4 cause …
the human N 7-methylguanosine (m 7 G) methyltransferase complex METTL1/WDR4 cause …
OLIG2 drives abnormal neurodevelopmental phenotypes in human iPSC-based organoid and chimeric mouse models of down syndrome
Down syndrome (DS) is a common neurodevelopmental disorder, and cognitive defects in
DS patients may arise from imbalances in excitatory and inhibitory neurotransmission …
DS patients may arise from imbalances in excitatory and inhibitory neurotransmission …
Internal m7G methylation: a novel epitranscriptomic contributor in brain development and diseases
In recent years, N7-methylguanosine (m7G) methylation, originally considered as
messenger RNA (mRNA) 5′ caps modifications, has been identified at defined internal …
messenger RNA (mRNA) 5′ caps modifications, has been identified at defined internal …
THRONE: a new approach for accurate prediction of human RNA N7-methylguanosine sites
Abstract N 7-methylguanosine (m7G) is an essential, ubiquitous, and positively charged
modification at the 5′ cap of eukaryotic mRNA, modulating its export, translation, and …
modification at the 5′ cap of eukaryotic mRNA, modulating its export, translation, and …
Mouse models of Down syndrome: gene content and consequences
Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), is challenging to model in
mice. Not only is it a contiguous gene syndrome spanning 35 Mb of the long arm of Hsa21 …
mice. Not only is it a contiguous gene syndrome spanning 35 Mb of the long arm of Hsa21 …
Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome
A Duchon, M Raveau, C Chevalier, V Nalesso… - Mammalian …, 2011 - Springer
Down syndrome (DS) is the most frequent genetic disorder leading to intellectual disabilities
and is caused by three copies of human chromosome 21. Mouse models are widely used to …
and is caused by three copies of human chromosome 21. Mouse models are widely used to …
A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions
Down syndrome (DS) is caused by the presence of an extra copy of human chromosome 21
(Hsa21) and is the most common genetic cause for developmental cognitive disability. The …
(Hsa21) and is the most common genetic cause for developmental cognitive disability. The …
tRNA-derived small RNAs: biogenesis, modification, function and potential impact on human disease development
V Oberbauer, MR Schaefer - Genes, 2018 - mdpi.com
Transfer RNAs (tRNAs) are abundant small non-coding RNAs that are crucially important for
decoding genetic information. Besides fulfilling canonical roles as adaptor molecules during …
decoding genetic information. Besides fulfilling canonical roles as adaptor molecules during …