Regulation, functions and transmission of bivalent chromatin during mammalian development

TA Macrae, J Fothergill-Robinson… - … reviews Molecular cell …, 2023 - nature.com
Cells differentiate and progress through development guided by a dynamic chromatin
landscape that mediates gene expression programmes. During development, mammalian …

Pathophysiological mechanisms and therapeutic approaches in obstructive sleep apnea syndrome

R Lv, X Liu, Y Zhang, N Dong, X Wang, Y He… - Signal transduction and …, 2023 - nature.com
Obstructive sleep apnea syndrome (OSAS) is a common breathing disorder in sleep in
which the airways narrow or collapse during sleep, causing obstructive sleep apnea. The …

Autism genes converge on asynchronous development of shared neuron classes

B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …

Histone lysine methyltransferases in biology and disease

D Husmann, O Gozani - Nature structural & molecular biology, 2019 - nature.com
The precise temporal and spatial coordination of histone lysine methylation dynamics across
the epigenome regulates virtually all DNA-templated processes. A large number of histone …

COMPASS and SWI/SNF complexes in development and disease

BK Cenik, A Shilatifard - Nature Reviews Genetics, 2021 - nature.com
Abstract The Trithorax group (TrxG) of proteins is a large family of epigenetic regulators that
form multiprotein complexes to counteract repressive developmental gene expression …

Roles and regulation of histone methylation in animal development

A Jambhekar, A Dhall, Y Shi - Nature reviews Molecular cell biology, 2019 - nature.com
Histone methylation can occur at various sites in histone proteins, primarily on lysine and
arginine residues, and it can be governed by multiple positive and negative regulators, even …

Management of functional neurological disorder

GS Gilmour, G Nielsen, T Teodoro, M Yogarajah… - Journal of …, 2020 - Springer
Functional neurological disorder (FND) is a common cause of persistent and disabling
neurological symptoms. These symptoms are varied and include abnormal control of …

Quantifying the contribution of recessive coding variation to developmental disorders

HC Martin, WD Jones, R McIntyre, G Sanchez-Andrade… - Science, 2018 - science.org
We estimated the genome-wide contribution of recessive coding variation in 6040 families
from the Deciphering Developmental Disorders study. The proportion of cases attributable to …

Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects

JA Fahrner, HT Bjornsson - Human Molecular Genetics, 2019 - academic.oup.com
The epigenetic machinery in conjunction with the transcriptional machinery is responsible
for maintaining genome-wide chromatin states and dynamically regulating gene expression …

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela… - Brain, 2020 - academic.oup.com
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and
often complex dystonia (DYT28). Key characteristics of typical disease include focal motor …