A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, Complementation group A, cells [PDF]
Nucleic Acids Research, 1993 A DNA binding protein with specificity for DNA containing interstrand cross-links induced by 4,5',8-trimethylpsoralen (TMP) plus long wavelength ultraviolet (UVA) light has been identified in normal human chromatin. Protein binding to DNA was determined using a gel mobility shift assay and an oligonucleotide containing a hot spot for formation of ...
B, Hang, A T, Yeung, M W, Lambert
openaire +2 more sources
Frontiers in Genetics, 2020 Pulmonary arterial hypertension (PAH) is a rare but fatal disease characterized by vascular cell proliferation; the pathogenesis of PAH has yet to be fully elucidated. Publicly available genetic data were downloaded from the Gene Expression Omnibus (GEO)
Qing Li +3 more
doaj +1 more source
Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients [PDF]
, 2012 © 2012 Joksic et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium ...
Guc-Scekic, M +11 more
core +3 more sources
Preclinical correction of human Fanconi anemia complementation group A bone marrow cells using a safety-modified lentiviral vector. [PDF]
, 2010 One of the major hurdles for the development of gene therapy for Fanconi anemia (FA) is the increased sensitivity of FA stem cells to free radical-induced DNA damage during ex vivo culture and manipulation.
Adair, J +10 more
core +2 more sources
Brazilian Journal of Medical and Biological Research, 2014 Fanconi anemia complementation group F protein (FANCF) is a key factor, which maintains the function of FA/BRCA, a DNA damage response pathway. However, the functional role of FANCF in breast cancer has not been elucidated.
L. Zhao +10 more
doaj +1 more source
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing [PDF]
, 2012 Fanconi anemia (FA) is a rare inherited disease characterized by developmental defects, short stature, bone marrow failure, and a high risk of malignancies. FA is heterogeneous: 15 genetic subtypes have been distinguished so far.
Ameziane, N. +5 more
core +3 more sources
Chromosomal integrity after UV irradiation requires FANCD2-mediated repair of double strand breaks [PDF]
, 2016 Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork ...
Bocco, Jose Luis +7 more
core +7 more sources
DNA repair biomarkers XPF and phospho-MAPKAP kinase 2 correlate with clinical outcome in advanced head and neck cancer. [PDF]
, 2014 BackgroundInduction chemotherapy is a common therapeutic option for patients with locoregionally-advanced head and neck cancer (HNC), but it remains unclear which patients will benefit. In this study, we searched for biomarkers predicting the response of
Cohen, Ezra EW +13 more
core +6 more sources
Identification of the Fanconi Anemia Complementation Group I Gene, FANCI
Cellular Oncology, 2007 To identify the gene underlying Fanconi anemia (FA) complementation group I we studied informative FA-I families by a genome-wide linkage analysis, which resulted in 4 candidate regions together encompassing 351 genes.
Josephine C. Dorsman +16 more
doaj +1 more source
Acquisition of Relative Interstrand Crosslinker Resistance and PARP Inhibitor Sensitivity in Fanconi Anemia Head and Neck Cancers [PDF]
, 2015 PURPOSE: Fanconi anemia is an inherited disorder associated with a constitutional defect in the Fanconi anemia DNA repair machinery that is essential for resolution of DNA interstrand crosslinks.
Andreassen, Paul R. +11 more
core +1 more source