Transposable elements in human genetic disease

LM Payer, KH Burns - Nature Reviews Genetics, 2019 - nature.com
Transposable elements are abundant in the human genome, and great strides have been
made in pinpointing variations in these repetitive sequences using whole-genome …

The Fanconi anemia pathway in cancer

J Niraj, A Färkkilä, AD D'Andrea - Annual review of cancer …, 2019 - annualreviews.org
Fanconi anemia (FA) is a complex genetic disorder characterized by bone marrow failure
(BMF), congenital defects, inability to repair DNA interstrand cross-links (ICLs), and cancer …

The Fanconi anaemia pathway: new players and new functions

R Ceccaldi, P Sarangi, AD D'Andrea - Nature reviews Molecular cell …, 2016 - nature.com
The Fanconi anaemia pathway repairs DNA interstrand crosslinks (ICLs) in the genome. Our
understanding of this complex pathway is still evolving, as new components continue to be …

Fanconi anaemia and cancer: an intricate relationship

G Nalepa, DW Clapp - Nature Reviews Cancer, 2018 - nature.com
Fanconi anaemia (FA) is a genetic disorder that is characterized by bone marrow failure
(BMF), developmental abnormalities and predisposition to cancer. Together with other …

The Fanconi anemia pathway maintains genome stability by coordinating replication and transcription

RA Schwab, J Nieminuszczy, F Shah, J Langton… - Molecular cell, 2015 - cell.com
DNA replication stress can cause chromosomal instability and tumor progression. One key
pathway that counteracts replication stress and promotes faithful DNA replication consists of …

A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination

AT Wang, T Kim, JE Wagner, BA Conti, FP Lach… - Molecular cell, 2015 - cell.com
Repair of DNA interstrand crosslinks requires action of multiple DNA repair pathways,
including homologous recombination. Here, we report a de novo heterozygous T131P …

A novel UBE2T inhibitor suppresses Wnt/β-catenin signaling hyperactivation and gastric cancer progression by blocking RACK1 ubiquitination

Z Yu, X Jiang, L Qin, H Deng, J Wang, W Ren, H Li… - Oncogene, 2021 - nature.com
Dysregulation of the Wnt/β-catenin signaling pathway is critically involved in gastric cancer
(GC) progression. However, current Wnt pathway inhibitors being studied in preclinical or …

Our conflict with transposable elements and its implications for human disease

KH Burns - Annual Review of Pathology: Mechanisms of …, 2020 - annualreviews.org
Our genome is a historic record of successive invasions of mobile genetic elements. Like
other eukaryotes, we have evolved mechanisms to limit their propagation and minimize the …

Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics

M Bogliolo, J Surralles - Current opinion in genetics & development, 2015 - Elsevier
Fanconi anemia (FA) is characterized by bone marrow failure, malformations, and
chromosome fragility. We review the recent discovery of FA genes and efforts to develop …

Interplay between Fanconi anemia and homologous recombination pathways in genome integrity

J Michl, J Zimmer, M Tarsounas - The EMBO journal, 2016 - embopress.org
The Fanconi anemia (FA) pathway plays a central role in the repair of DNA interstrand
crosslinks (ICL s) and regulates cellular responses to replication stress. Homologous …