Leveraging the replication stress response to optimize cancer therapy

E Cybulla, A Vindigni - Nature Reviews Cancer, 2023 - nature.com
High-fidelity DNA replication is critical for the faithful transmission of genetic information to
daughter cells. Following genotoxic stress, specialized DNA damage tolerance pathways …

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart

A Ciccia, AL Bredemeyer, ME Sowa… - Genes & …, 2009 - genesdev.cshlp.org
The integrity of genomic DNA is continuously challenged by the presence of DNA base
lesions or DNA strand breaks. Here we report the identification of a new DNA damage …

Incomplete penetrance in primary immunodeficiency: a skeleton in the closet

C Gruber, D Bogunovic - Human genetics, 2020 - Springer
Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders
that result in clinically apparent immune dysfunction. Although PIDs are classically …

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis—a review

MM Löwik, PJ Groenen, EN Levtchenko… - European journal of …, 2009 - Springer
This review deals with podocyte proteins that play a significant role in the structure and
function of the glomerular filter. Genetic linkage studies has identified several genes …

Hereditary dentin defects with systemic diseases

T Su, Y Zhu, X Wang, Q Zhu, X Duan - Oral Diseases, 2023 - Wiley Online Library
Objective This review aimed to summarize recent progress on syndromic dentin defects,
promoting a better understanding of systemic diseases with dentin malformations, the …

Unwinding and rewinding: double faces of helicase?

Y Wu - Journal of nucleic acids, 2012 - Wiley Online Library
Helicases are enzymes that use ATP‐driven motor force to unwind double‐stranded DNA or
RNA. Recently, increasing evidence demonstrates that some helicases also possess …

Monogenic focal segmental glomerulosclerosis: a conceptual framework for identification and management of a heterogeneous disease

M Sambharia, P Rastogi… - American Journal of …, 2022 - Wiley Online Library
Focal segmental glomerulosclerosis (FSGS) is not a disease, rather a pattern of histological
injury occurring from a variety of causes. The exact pathogenesis has yet to be fully …

High-affinity DNA-binding domains of replication protein A (RPA) direct SMARCAL1-dependent replication fork remodeling

KP Bhat, R Bétous, D Cortez - Journal of Biological Chemistry, 2015 - ASBMB
SMARCAL1 catalyzes replication fork remodeling to maintain genome stability. It is recruited
to replication forks via an interaction with replication protein A (RPA), the major ssDNA …

Time for remodeling: SNF2-family DNA translocases in replication fork metabolism and human disease

SA Joseph, A Taglialatela, G Leuzzi, JW Huang… - DNA repair, 2020 - Elsevier
Over the course of DNA replication, DNA lesions, transcriptional intermediates and protein-
DNA complexes can impair the progression of replication forks, thus resulting in replication …