Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Sex and gender in neurodevelopmental conditions
Health-related conditions often differ qualitatively or quantitatively between individuals of
different birth-assigned sexes and gender identities, and/or with different gendered …
different birth-assigned sexes and gender identities, and/or with different gendered …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications
CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …
Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders
S Bizzotto, CA Walsh - Nature Reviews Neuroscience, 2022 - nature.com
Genetic mosaicism is the result of the accumulation of somatic mutations in the human
genome starting from the first postzygotic cell generation and continuing throughout the …
genome starting from the first postzygotic cell generation and continuing throughout the …
5-methylcytosine RNA methyltransferases and their potential roles in cancer
M Li, Z Tao, Y Zhao, L Li, J Zheng, Z Li… - Journal of translational …, 2022 - Springer
Abstract In recent years, 5-methylcytosine (m5C) RNA modification has emerged as a key
player in regulating RNA metabolism and function through coding as well as non-coding …
player in regulating RNA metabolism and function through coding as well as non-coding …
The RNA methyltransferase NSUN2 and its potential roles in cancer
A Chellamuthu, SG Gray - Cells, 2020 - mdpi.com
5-methylcytosine is often associated as an epigenetic modifier in DNA. However, it is also
found increasingly in a plethora of RNA species, predominantly transfer RNAs, but …
found increasingly in a plethora of RNA species, predominantly transfer RNAs, but …
RNA methylations in human cancers
RNA methylations, as the prevalent post-transcriptional modifications, are critical in
regulating various biological processes, such as RNA transcription, splicing, structure …
regulating various biological processes, such as RNA transcription, splicing, structure …
Genetic contributions to autism spectrum disorder
A Havdahl, M Niarchou, A Starnawska… - Psychological …, 2021 - cambridge.org
Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental
conditions characterized by early childhood-onset impairments in communication and social …
conditions characterized by early childhood-onset impairments in communication and social …