Genome folding through loop extrusion by SMC complexes

IF Davidson, JM Peters - Nature reviews Molecular cell biology, 2021 - nature.com
Genomic DNA is folded into loops and topologically associating domains (TADs), which
serve important structural and regulatory roles. It has been proposed that these genomic …

[HTML][HTML] Spatial and temporal organization of the genome: Current state and future aims of the 4D nucleome project

J Dekker, F Alber, S Aufmkolk, BJ Beliveau… - Molecular cell, 2023 - cell.com
The four-dimensional nucleome (4DN) consortium studies the architecture of the genome
and the nucleus in space and time. We summarize progress by the consortium and highlight …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours

X Ma, YU Liu, Y Liu, LB Alexandrov, MN Edmonson… - Nature, 2018 - nature.com
Abstract Analysis of molecular aberrations across multiple cancer types, known as pan-
cancer analysis, identifies commonalities and differences in key biological processes that …

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

AD Kline, JF Moss, A Selicorni, AM Bisgaard… - Nature Reviews …, 2018 - nature.com
Abstract Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is
characterized by intellectual disability, well-defined facial features, upper limb anomalies …

WAPL maintains a cohesin loading cycle to preserve cell-type-specific distal gene regulation

NQ Liu, M Maresca, T van den Brand, L Braccioli… - Nature …, 2021 - nature.com
The cohesin complex has an essential role in maintaining genome organization. However,
its role in gene regulation remains largely unresolved. Here we report that the cohesin …

A mechanism of cohesin‐dependent loop extrusion organizes zygotic genome architecture

J Gassler, HB Brandão, M Imakaev, IM Flyamer… - The EMBO …, 2017 - embopress.org
Fertilization triggers assembly of higher‐order chromatin structure from a condensed
maternal and a naïve paternal genome to generate a totipotent embryo. Chromatin loops …

Genetics of cleft lip and cleft palate

EJ Leslie, ML Marazita - … Journal of Medical Genetics Part C …, 2013 - Wiley Online Library
Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …

[HTML][HTML] Control of the embryonic stem cell state

RA Young - Cell, 2011 - cell.com
Embryonic stem cells and induced pluripotent stem cells hold great promise for regenerative
medicine. These cells can be propagated in culture in an undifferentiated state but can be …

Mediator and cohesin connect gene expression and chromatin architecture

MH Kagey, JJ Newman, S Bilodeau, Y Zhan… - Nature, 2010 - nature.com
Transcription factors control cell-specific gene expression programs through interactions
with diverse coactivators and the transcription apparatus. Gene activation may involve DNA …