New insights into genome folding by loop extrusion from inducible degron technologies

E de Wit, EP Nora - Nature Reviews Genetics, 2023 - nature.com
Chromatin folds into dynamic loops that often span hundreds of kilobases and physically
wire distant loci together for gene regulation. These loops are continuously created …

NIPBL and cohesin: new take on a classic tale

D Alonso-Gil, A Losada - Trends in cell biology, 2023 - cell.com
Cohesin folds the genome in dynamic chromatin loops and holds the sister chromatids
together. NIPBL Scc2 is currently considered the cohesin loader, a role that may need …

The multifaceted role of mitochondria in autism spectrum disorder

I Khaliulin, W Hamoudi, H Amal - Molecular psychiatry, 2024 - nature.com
Normal brain functioning relies on high aerobic energy production provided by
mitochondria. Failure to supply a sufficient amount of energy, seen in different brain …

BRD4 orchestrates genome folding to promote neural crest differentiation

R Linares-Saldana, W Kim, NA Bolar, H Zhang… - Nature Genetics, 2021 - nature.com
Higher-order chromatin structure regulates gene expression, and mutations in proteins
mediating genome folding underlie developmental disorders known as cohesinopathies …

[HTML][HTML] Rubinstein-Taybi syndrome: a model of epigenetic disorder

J Van Gils, F Magdinier, P Fergelot, D Lacombe - Genes, 2021 - mdpi.com
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual …

Cohesin subunit RAD21: From biology to disease

H Cheng, N Zhang, D Pati - Gene, 2020 - Elsevier
RAD21 (also known as KIAA0078, NXP1, HR21, Mcd1, Scc1, and hereafter called RAD21),
an essential gene, encodes a DNA double-strand break (DSB) repair protein that is …

[HTML][HTML] A therapeutic perspective of HDAC8 in different diseases: an overview of selective inhibitors

A Fontana, I Cursaro, G Carullo, S Gemma… - International Journal of …, 2022 - mdpi.com
Histone deacetylases (HDACs) are epigenetic enzymes which participate in transcriptional
repression and chromatin condensation mechanisms by removing the acetyl moiety from …

Physical nature of chromatin in the nucleus

K Maeshima, S Iida, S Tamura - Cold Spring Harbor …, 2021 - cshperspectives.cshlp.org
Genomic information is encoded on long strands of DNA, which are folded into chromatin
and stored in a tiny nucleus. Nuclear chromatin is a negatively charged polymer composed …

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

M Kaur, J Blair, B Devkota, S Fortunato… - American Journal of …, 2023 - Wiley Online Library
Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem
developmental disorder characterized by highly variable manifestations of growth and …

Context-dependent perturbations in chromatin folding and the transcriptome by cohesin and related factors

R Nakato, T Sakata, J Wang, LAE Nagai… - Nature …, 2023 - nature.com
Cohesin regulates gene expression through context-specific chromatin folding mechanisms
such as enhancer–promoter loo** and topologically associating domain (TAD) formation …