Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia
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DNA Damage: A Main Determinant of Vascular AgingInterplay between Fanconi anemia and homologous recombination pathways in genome integrityPhotosensitive human syndromesMechanism and regulation of incisions during DNA interstrand cross-link repairFanconi anemia and the cell cycle: new perspectives on aneuploidyCell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiencyThe Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 PhosphorylationThe MHF complex senses branched DNA by binding a pair of crossover DNA duplexesA Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous RecombinationXPF-ERCC1 acts in Unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4DNA repair diseases: What do they tell us about cancer and aging?Advances in understanding the complex mechanisms of DNA interstrand cross-link repairThe Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF ComplexA never-ending story: the steadily growing family of the FA and FA-like genesThe genomics of inherited bone marrow failure: from mechanism to the clinic.ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome.The histone-fold complex MHF is remodeled by FANCM to recognize branched DNA and protect genome stability.A concomitant loss of dormant origins and FANCC exacerbates genome instability by impairing DNA replication fork progression.Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.Cellular Repair of DNA-DNA Cross-Links Induced by 1,2,3,4-Diepoxybutane.Hypersensitivity of primordial germ cells to compromised replication-associated DNA repair involves ATM-p53-p21 signalingTumor suppressor RecQL5 controls recombination induced by DNA crosslinking agentsCSB interacts with SNM1A and promotes DNA interstrand crosslink processingEndogenous Formaldehyde Is a Hematopoietic Stem Cell Genotoxin and Metabolic Carcinogen.Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient miceIncreased meiotic crossovers and reduced genome stability in absence of Schizosaccharomyces pombe Rad16 (XPF).Coordinate nuclear targeting of the FANCD2 and FANCI proteins via a FANCD2 nuclear localization signal.The Fanconi anemia group C protein interacts with uncoordinated 5A and delays apoptosis.The ERCC1 and ERCC4 (XPF) genes and gene productsCharacterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroupComparison of mice with accelerated aging caused by distinct mechanismsPrimary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation in a Mouse Model.Dearth and Delayed Maturation of Testicular Germ Cells in Fanconi Anemia E Mutant Male MiceDeep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectNuclear lamins in cancerMutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer.The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.Xeroderma pigmentosum-Cockayne syndrome complex.
P2860
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P2860
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia
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2013 nî lūn-bûn
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2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2013 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@ast
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@en
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@nl
type
label
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@ast
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@en
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@nl
prefLabel
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@ast
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@en
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@nl
P2093
P2860
P50
P3181
P1476
Malfunction of nuclease ERCC1- ...... igmentosum, and Fanconi anemia
@en
P2093
Akiyoshi Hirano
Alan R Lehmann
Atsushi Utani
Chaowan Guo
Daniela T Pilz
Danielle Greenblatt
David McGibbon
Heather Fawcett
Hiva Fassihi
Jonathan F Wing
P2860
P304
P3181
P356
10.1016/J.AJHG.2013.04.007
P407
P577
2013-05-02T00:00:00Z