Human sebaceous tumors harbor inactivating mutations in LEF1

H Takeda, S Lyle, AJF Lazar, CC Zouboulis, I Smyth… - Nature medicine, 2006 - nature.com
We found that one-third of human sebaceous tumors examined had double-nucleotide
substitutions in the same LEF1 allele, irrespective of DNA mismatch repair status. The …

Multiple but dissectible functions of FEN‐1 nucleases in nucleic acid processing, genome stability and diseases

B Shen, P Singh, R Liu, J Qiu, L Zheng, LD Finger… - …, 2005 - Wiley Online Library
Abstract Flap EndoNuclease‐1 (FEN‐1) is a multifunctional and structure‐specific nuclease
involved in nucleic acid processing pathways. It plays a critical role in maintaining human …

Disruption of the FEN-1/PCNA interaction results in DNA replication defects, pulmonary hypoplasia, pancytopenia, and newborn lethality in mice

L Zheng, H Dai, J Qiu, Q Huang… - Molecular and cellular …, 2007 - Am Soc Microbiol
The interaction between flap endonuclease 1 (FEN-1) and proliferation cell nuclear antigen
(PCNA) is critical for faithful and efficient Okazaki fragment maturation. In a living cell, this …

Mechanism whereby proliferating cell nuclear antigen stimulates flap endonuclease 1

S Tom, LA Henricksen, RA Bambara - Journal of Biological Chemistry, 2000 - ASBMB
Human flap endonuclease 1 (FEN1), an essential DNA replication protein, cleaves
substrates with unannealed 5′-tails. FEN1 apparently tracks along the flap from the 5 …

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

P Huppke, S Weissbach, JA Church, R Schnur… - Nature …, 2017 - nature.com
Transcription factor NRF2, encoded by NFE2L2, is the master regulator of defense against
stress in mammalian cells. Somatic mutations of NFE2L2 leading to NRF2 accumulation …

[HTML][HTML] The flexible loop of human FEN1 endonuclease is required for flap cleavage during DNA replication and repair

F Storici, G Henneke, E Ferrari, DA Gordenin… - The EMBO …, 2002 - embopress.org
The conserved, structure‐specific flap endonuclease FEN1 cleaves 5′ DNA flaps that arise
during replication or repair. To address in vivo mechanisms of flap cleavage, we developed …

Cancer related mutations in NRF2 impair its recognition by Keap1-Cul3 E3 ligase and promote malignancy

T Shibata, T Ohta, KI Tong, A Kokubu… - Proceedings of the …, 2008 - National Acad Sciences
The nuclear factor E2-related factor 2 (Nrf2) is a master transcriptional activator of genes
encoding numerous cytoprotective enzymes that are induced in response to environmental …

Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer

ALH Webster, MA Sanders, K Patel, R Dietrich… - Nature, 2022 - nature.com
Fanconi anaemia (FA), a model syndrome of genome instability, is caused by a deficiency in
DNA interstrand crosslink repair resulting in chromosome breakage,–. The FA repair …

Effect of flap modifications on human FEN1 cleavage

CJ Bornarth, TA Ranalli, LA Henricksen, AF Wahl… - Biochemistry, 1999 - ACS Publications
The flap endonuclease, FEN1, plays a critical role in DNA replication and repair. Human
FEN1 exhibits both a 5 'to 3 'exonucleolytic and a structure-specific endonucleolytic activity …

Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death

GG Hicks, N Singh, A Nashabi, S Mai, G Bozek… - Nature …, 2000 - nature.com
The gene FUS (also known as TLS (for translocated in liposarcoma) and hnRNP P 2) is
translocated with the gene encoding the transcription factor ERG-1 in human myeloid …