Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship
about
Nucleotide excision repair is associated with the replisome and its efficiency depends on a direct interaction between XPA and PCNAReplication factor C recruits DNA polymerase delta to sites of nucleotide excision repair but is not required for PCNA recruitmentXeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patientsAdverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal developmentTrichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsCockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylaseInvolvement of nucleotide excision and mismatch repair mechanisms in double strand break repairDNA repair and aging: the impact of the p53 familyOxidative stress, bone marrow failure, and genome instability in hematopoietic stem cellsOxidative stress, DNA damage, and the telomeric complex as therapeutic targets in acute neurodegenerationBasal cell carcinoma - molecular biology and potential new therapiesCell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiencyPotential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disordersSystemic DNA damage responses in aging and diseasesMutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processingThe cerebro-morphological fingerprint of a progeroid syndrome: white matter changes correlate with neurological symptoms in xeroderma pigmentosumGammaH2AX and cancerAuditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degenerationHereditary genodermatoses with cancer predispositionMicroRNA-27a regulates basal transcription by targeting the p44 subunit of general transcription factor IIH.A community-based study of nucleotide excision repair polymorphisms in relation to the risk of non-melanoma skin cancer.Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.Sequential recruitment of the repair factors during NER: the role of XPG in initiating the resynthesis step.Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patientsThe 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair.Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapyNewly identified CHO ERCC3/XPB mutations and phenotype characterization.A functional analysis of G23A polymorphism and the alternative splicing in the expression of the XPA gene.Mechanisms controlling the smooth muscle cell death in progeria via down-regulation of poly(ADP-ribose) polymerase 1.Hydrogen peroxide induced genomic instability in nucleotide excision repair-deficient lymphoblastoid cellsOphthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literatureTargeting and processing of site-specific DNA interstrand crosslinks.Premature aging and cancer in nucleotide excision repair-disorders.Prenatal diagnosis of xeroderma pigmentosum group A in Japan.Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology
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P2860
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship
description
2007 nî lūn-bûn
@nan
2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@ast
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@en
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@nl
type
label
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@ast
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@en
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@nl
prefLabel
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@ast
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@en
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@nl
P2093
P2860
P3181
P1433
P1476
Xeroderma pigmentosum, trichot ...... enotype-phenotype relationship
@en
P2093
B P Brooks
J J DiGiovanna
K H Kraemer
N J Patronas
R Schiffmann
P2860
P304
P3181
P356
10.1016/J.NEUROSCIENCE.2006.12.020
P407
P577
2007-04-14T00:00:00Z