[HTML][HTML] Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22. 11 locus

M Scala, CA Bradley, JL Howe, B Trost, NB Salazar… - medRxiv, 2023 - ncbi.nlm.nih.gov
Summary Autism Spectrum Disorder (ASD) exhibits an~ 4: 1 male-to-female sex bias and is
characterized by early-onset impairment of social/communication skills, restricted interests …

Genome-wide association study between copy number variation and feeding behavior, feed efficiency, and growth traits in Nellore cattle

LF Benfica, LF Brito, RD do Bem, HA Mulim, J Glessner… - BMC genomics, 2024 - Springer
Background Feeding costs represent the largest expenditures in beef production. Therefore,
the animal efficiency in converting feed in high-quality protein for human consumption plays …

Genomics of Brain Disorders 4.0

R Cacabelos - International Journal of Molecular Sciences, 2024 - mdpi.com
Several historic, scientific events have occurred in the decade 2013–2023, in particular the
COVID-19 pandemic. This massive pathogenic threat, which has affected the world's …

Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study

DA Baribeau, J Arneja, X Wang, J Howe… - Autism …, 2023 - Wiley Online Library
Whether genetic testing in autism can help understand longitudinal health outcomes and
health service needs is unclear. The objective of this study was to determine whether …

The Role of SNAP-25 in Autism Spectrum Disorders Onset Patterns

E Bolognesi, FR Guerini, A Carta, M Chiappedi… - International Journal of …, 2023 - mdpi.com
Autism spectrum disorders (ASD) can present with different onset and timing of symptom
development; children may manifest symptoms early in their first year of life, ie, early onset …

[HTML][HTML] Combining Off‐flow, a Nextflow‐coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs

C Shum, SY Han, B Thiruvahindrapuram… - Computational and …, 2024 - Elsevier
Abstract Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas
nucleases and human induced pluripotent stem cell (iPSC) technology can reveal deep …

[HTML][HTML] Gut microbiome and metabolic profiles of mouse model for MeCP2 duplication syndrome

J Wu, Q Hu, X Rao, H Zhao, H Tang, Y Wang - Brain Research Bulletin, 2024 - Elsevier
The extra copy of the methyl-CpG-binding protein 2 (MeCp2) gene causes MeCP2
duplication syndrome (MDS), a neurodevelopmental disorder characterized by intellectual …

A foundational atlas of autism protein interactions reveals molecular convergence

B Wang, R Vartak, Y Zaltsman, ZZC Naing, K Hennick… - 2023 - papers.ssrn.com
Translating high-confidence (hc) autism spectrum disorder (ASD) genes into viable
treatment targets remains elusive. We constructed a foundational protein-protein interaction …

Comparative analyses of the Smith− Magenis syndrome protein RAI1 in mice and common marmoset monkeys

YT Chang, YJ Lee, M Haque, HC Chang… - Journal of …, 2024 - Wiley Online Library
Abstract Retinoic acid‐induced 1 (RAI1) encodes a transcriptional regulator critical for brain
development and function. RAI1 haploinsufficiency in humans causes a syndromic autism …

[HTML][HTML] New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19

Z Kravetz, R Schmidt-Kastner - IBRO Neuroscience Reports, 2023 - Elsevier
Hartnup disease is an autosomal recessive, metabolic disorder caused by mutations of the
neutral amino acid transporter, SLC6A19/B0AT1. Reduced absorption in the intestine and …