First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
about
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPANew RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishAnalysis of the XPA and ssDNA-binding surfaces on the central domain of human ERCC1 reveals evidence for subfunctionalizationA tale of tails: insights into the coordination of 3' end processing during homologous recombinationHow the fanconi anemia pathway guards the genomeMechanisms of interstrand DNA crosslink repair and human disordersDiseases associated with defective responses to DNA damageMammalian transcription-coupled excision repairDNA repair endonuclease ERCC1-XPF as a novel therapeutic target to overcome chemoresistance in cancer therapyCell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiencyPhysiological consequences of defects in ERCC1-XPF DNA repair endonucleaseThe ERCC1/XPF endonuclease is required for efficient single-strand annealing and gene conversion in mammalian cellsERCC1-XPF endonuclease facilitates DNA double-strand break repairMutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemiaMalfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemiaERCC1 and XRCC1 as biomarkers for lung and head and neck cancerThe Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF ComplexThe XPA-binding domain of ERCC1 is required for nucleotide excision repair but not other DNA repair pathways.Repair of laser-localized DNA interstrand cross-links in G1 phase mammalian cellsMislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patientsPrognostic significance of ERCC1 expression in postoperative patients with gastric cancer.Role of interaction of XPF with RPA in nucleotide excision repair.Premature aging and cancer in nucleotide excision repair-disorders.Hyper telomere recombination accelerates replicative senescence and may promote premature aging.Multiple DNA binding domains mediate the function of the ERCC1-XPF protein in nucleotide excision repair.Nucleotide excision repair deficiency is intrinsic in sporadic stage I breast cancerReduced proficiency in homologous recombination underlies the high sensitivity of embryonal carcinoma testicular germ cell tumors to Cisplatin and poly (adp-ribose) polymerase inhibition.The ERCC1 N118N polymorphism does not change cellular ERCC1 protein expression or platinum sensitivityTranscriptional profiling reveals progeroid Ercc1(-/Δ) mice as a model system for glomerular aging.XPF expression correlates with clinical outcome in squamous cell carcinoma of the head and neck.Diagnosis of Xeroderma Pigmentosum and Related DNA Repair-Deficient Cutaneous DiseasesThe ERCC1 and ERCC4 (XPF) genes and gene productsComparison of mice with accelerated aging caused by distinct mechanismsDownregulation of cholesterol biosynthesis genes in the forebrain of ERCC1-deficient miceHuman RECQL5: guarding the crossroads of DNA replication and transcription and providing backup capabilityFluorescence-based incision assay for human XPF-ERCC1 activity identifies important elements of DNA junction recognition.Comparison of ERCC1/XPF genetic variation, mRNA and protein levels in women with advanced stage ovarian cancer treated with intraperitoneal platinum.Regulation and disregulation of mammalian nucleotide excision repair: a pathway to nongermline breast carcinogenesis.Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.DNA interstrand crosslink repair and cancer.
P2860
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P2860
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
description
2007 nî lūn-bûn
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2007 թուականի Մարտին հրատարակուած գիտական յօդուած
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2007 թվականի մարտին հրատարակված գիտական հոդված
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2007年の論文
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2007年論文
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2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
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2007年論文
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2007年论文
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name
First reported patient with hu ...... d severe developmental failure
@ast
First reported patient with hu ...... d severe developmental failure
@en
First reported patient with hu ...... d severe developmental failure
@nl
type
label
First reported patient with hu ...... d severe developmental failure
@ast
First reported patient with hu ...... d severe developmental failure
@en
First reported patient with hu ...... d severe developmental failure
@nl
prefLabel
First reported patient with hu ...... d severe developmental failure
@ast
First reported patient with hu ...... d severe developmental failure
@en
First reported patient with hu ...... d severe developmental failure
@nl
P2093
P2860
P50
P3181
P356
P1476
First reported patient with hu ...... d severe developmental failure
@en
P2093
Andria Rasile Robinson
Anja Raams
Jan H J Hoeijmakers
Laura J Niedernhofer
Nicolaas G J Jaspers
Wim J Kleijer
P2860
P304
P3181
P356
10.1086/512486
P407
P577
2007-03-01T00:00:00Z