Transcription regulation by long non-coding RNAs: mechanisms and disease relevance

J Ferrer, N Dimitrova - Nature Reviews Molecular Cell Biology, 2024 - nature.com
Long non-coding RNAs (lncRNAs) outnumber protein-coding transcripts, but their functions
remain largely unknown. In this Review, we discuss the emerging roles of lncRNAs in the …

Genetics and genomics of autism spectrum disorder: embracing complexity

S De Rubeis, JD Buxbaum - Human molecular genetics, 2015 - academic.oup.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by
impairments in social communication and social interaction and the presence of repetitive …

A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies

Y Kang, Y Zhou, Y Li, Y Han, J Xu, W Niu, Z Li… - Nature …, 2021 - nature.com
Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein
(FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this …

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

KL Helbig, KD Farwell Hagman, DN Shinde… - Genetics in …, 2016 - nature.com
Purpose: To assess the yield of diagnostic exome sequencing (DES) and to characterize the
molecular findings in characterized and novel disease genes in patients with epilepsy …

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

BJ O'roak, HA Stessman, EA Boyle… - Nature …, 2014 - nature.com
Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we
report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in …

Advancing epilepsy genetics in the genomic era

CT Myers, HC Mefford - Genome medicine, 2015 - Springer
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

B Mossink, M Negwer, D Schubert… - Cellular and Molecular …, 2021 - Springer
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

[HTML][HTML] Seizing the moment: Zebrafish epilepsy models

K Gawel, M Langlois, T Martins, W van der Ent… - Neuroscience & …, 2020 - Elsevier
Zebrafish are now widely accepted as a valuable animal model for a number of different
central nervous system (CNS) diseases. They are suitable both for elucidating the origin of …

De novo mutations in CHD4, an ATP-dependent chromatin remodeler gene, cause an intellectual disability syndrome with distinctive dysmorphisms

K Weiss, PA Terhal, L Cohen, M Bruccoleri… - The American Journal of …, 2016 - cell.com
Chromodomain helicase DNA-binding protein 4 (CHD4) is an ATP-dependent chromatin
remodeler involved in epigenetic regulation of gene transcription, DNA repair, and cell cycle …

Essential genetic findings in neurodevelopmental disorders

AR Cardoso, M Lopes-Marques, RM Silva, C Serrano… - Human genomics, 2019 - Springer
Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern
societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a …