The plasticity of DNA replication forks in response to clinically relevant genotoxic stress

M Berti, D Cortez, M Lopes - Nature reviews Molecular cell biology, 2020 - nature.com
Complete and accurate DNA replication requires the progression of replication forks through
DNA damage, actively transcribed regions, structured DNA and compact chromatin. Recent …

[HTML][HTML] The DNA damage response: making it safe to play with knives

A Ciccia, SJ Elledge - Molecular cell, 2010 - cell.com
Damage to our genetic material is an ongoing threat to both our ability to faithfully transmit
genetic information to our offspring as well as our own survival. To respond to these threats …

Exploring the genetic basis of early-onset chronic kidney disease

A Vivante, F Hildebrandt - Nature Reviews Nephrology, 2016 - nature.com
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

Whole exome sequencing of patients with steroid-resistant nephrotic syndrome

JK Warejko, W Tan, A Daga, D Schapiro… - Clinical Journal of the …, 2018 - journals.lww.com
Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …

ATR phosphorylates SMARCAL1 to prevent replication fork collapse

FB Couch, CE Bansbach, R Driscoll… - Genes & …, 2013 - genesdev.cshlp.org
The DNA damage response kinase ataxia telangiectasia and Rad3-related (ATR)
coordinates much of the cellular response to replication stress. The exact mechanisms by …

Nephrotic syndrome in childhood

AA Eddy, JM Symons - The lancet, 2003 - thelancet.com
Childhood nephrotic syndromes are most commonly caused by one of two idiopathic
diseases: minimal-change nephrotic syndrome (MCNS) and focal segmental …

Primary immunodeficiencies

LD Notarangelo - Journal of Allergy and Clinical Immunology, 2010 - Elsevier
In the last years, advances in molecular genetics and immunology have resulted in the
identification of a growing number of genes causing primary immunodeficiencies (PIDs) in …

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

M Le Gallo, AJ O'Hara, ML Rudd, ME Urick… - Nature …, 2012 - nature.com
Endometrial cancer is the sixth most commonly diagnosed cancer in women worldwide,
causing∼ 74,000 deaths annually. Serous endometrial cancers are a clinically aggressive …

Identification of multiple distinct Snf2 subfamilies with conserved structural motifs

A Flaus, DMA Martin, GJ Barton… - Nucleic acids …, 2006 - academic.oup.com
The Snf2 family of helicase-related proteins includes the catalytic subunits of ATP-
dependent chromatin remodelling complexes found in all eukaryotes. These act to regulate …

[HTML][HTML] DNA replication stress: causes, resolution and disease

A Mazouzi, G Velimezi, JI Loizou - Experimental cell research, 2014 - Elsevier
DNA replication is a fundamental process of the cell that ensures accurate duplication of the
genetic information and subsequent transfer to daughter cells. Various pertubations …