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 …
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 …
(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 …
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 …
(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 …
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
Repair of DNA interstrand crosslinks requires action of multiple DNA repair pathways,
including homologous recombination. Here, we report a de novo heterozygous T131P …
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 …
(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 …
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 …
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 …
crosslinks (ICL s) and regulates cellular responses to replication stress. Homologous …