Mammalian SWI/SNF chromatin remodeling complexes: emerging mechanisms and therapeutic strategies

RC Centore, GJ Sandoval, LMM Soares, C Kadoch… - Trends in Genetics, 2020 - cell.com
Small molecule-based targeting of chromatin regulatory factors has emerged as a promising
therapeutic strategy in recent years. The development and ongoing clinical evaluation of …

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 …

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries

ME Talkowski, JA Rosenfeld, I Blumenthal… - Cell, 2012 - cell.com
Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of
single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in …

H3K9 methyltransferase G9a and the related molecule GLP

Y Shinkai, M Tachibana - Genes & development, 2011 - genesdev.cshlp.org
The discovery of Suv39h1, the first SET domain-containing histone lysine methyltransferase
(HKMT), was reported in 2000. Since then, research on histone methylation has progressed …

EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex

H Ohno, K Shinoda, K Ohyama, LZ Sharp, S Kajimura - Nature, 2013 - nature.com
Brown adipose tissue (BAT) dissipates chemical energy in the form of heat as a defence
against hypothermia and obesity. Current evidence indicates that brown adipocytes arise …

Genetic and epigenetic networks in intellectual disabilities

H Van Bokhoven - Annual review of genetics, 2011 - annualreviews.org
Mutations in more than 450 different genes have been associated with intellectual disability
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …

[HTML][HTML] Molecular genetic contributions to social deprivation and household income in UK Biobank

WD Hill, SP Hagenaars, RE Marioni, SE Harris… - Current Biology, 2016 - cell.com
Individuals with lower socio-economic status (SES) are at increased risk of physical and
mental illnesses and tend to die at an earlier age [1–3]. Explanations for the association …

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

T Kleefstra, HG Brunner, J Amiel, AR Oudakker… - The American Journal of …, 2006 - cell.com
A clinically recognizable 9q subtelomeric deletion syndrome has recently been established.
Common features seen in these patients are severe mental retardation, hypotonia …

Histone methyltransferases in cancer

M Albert, K Helin - Seminars in cell & developmental biology, 2010 - Elsevier
Cancer is perceived as a heterogeneous group of diseases that is characterized by aberrant
patterns of gene expression. In the last decade, an increasing amount of data has pointed to …