Error‐prone repair of DNA double‐strand breaks

K Rodgers, M McVey - Journal of cellular physiology, 2016 - Wiley Online Library
Preserving the integrity of the DNA double helix is crucial for the maintenance of genomic
stability. Therefore, DNA double‐strand breaks represent a serious threat to cells. In this …

Cornelia de Lange syndrome

MI Boyle, C Jespersgaard, K Brøndum‐Nielsen… - Clinical …, 2015 - Wiley Online Library
Cornelia de Lange syndrome (CdLS; MIM# 122470, 300590, 610759, 614701, 300882) is a
rare and clinically variable disorder that affects multiple organs. It is characterized by …

Selective recruitment of nuclear factors to productively replicating herpes simplex virus genomes

JA Dembowski, NA DeLuca - PLoS pathogens, 2015 - journals.plos.org
Much of the HSV-1 life cycle is carried out in the cell nucleus, including the expression,
replication, repair, and packaging of viral genomes. Viral proteins, as well as cellular factors …

Ribosomopathies: Global process, tissue specific defects

PC Yelick, PA Trainor - Rare Diseases, 2015 - Taylor & Francis
Disruptions in ribosomal biogenesis would be expected to have global and in fact lethal
effects on a developing organism. However, mutations in ribosomal protein genes have …

Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes

A Latorre-Pellicer, Á Ascaso, L Trujillano… - International journal of …, 2020 - mdpi.com
Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated
with a recognisable facial pattern. However, the heterogeneity in causal genes and the …

A review of fasting effects on the response of cancer to chemotherapy

M Sadeghian, S Rahmani, S Khalesi, E Hejazi - Clinical nutrition, 2021 - Elsevier
Background & aims Studies suggest that fasting before or during chemotherapy may induce
differential stress resistance, reducing the adverse effects of chemotherapy and enhancing …

The genetics of cognitive epigenetics

T Kleefstra, A Schenck, JM Kramer, H Van Bokhoven - Neuropharmacology, 2014 - Elsevier
Cognitive disorders (CDs) are a heterogeneous group of disorders for which the genetic
foundations are rapidly being uncovered. The large number of CD-associated gene …

Chromatinopathies: A focus on Cornelia de Lange syndrome

L Avagliano, I Parenti, P Grazioli, E Di Fede… - Clinical …, 2020 - Wiley Online Library
In recent years, many genes have been associated with chromatinopathies classified as
“Cornelia de Lange Syndrome‐like.” It is known that the phenotype of these patients …

The expanding phenotypes of cohesinopathies: one ring to rule them all!

J Piché, PP Van Vliet, M Pucéat, G Andelfinger - Cell Cycle, 2019 - Taylor & Francis
Preservation and development of life depend on the adequate segregation of sister
chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit …

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

I Parenti, ME Teresa-Rodrigo, J Pozojevic, S Ruiz Gil… - Human genetics, 2017 - Springer
The coordinated tissue-specific regulation of gene expression is essential for the proper
development of all organisms. Mutations in multiple transcriptional regulators cause a group …