Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription

scientific article published on 31 January 2013

Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/JID.2013.54
P698PubMed publication ID23370536
P5875ResearchGate publication ID235391322

P50authorToshio MoriQ60617573
Alexei GratchevQ39804739
Michael R SchönQ43008843
Lars HofmannQ51361431
P2093author name stringSteffen Schubert
Steffen Emmert
Nobuhiko Kobayashi
Andreas Ohlenbusch
Anke Schürer
Annika Schäfer
Petra Laspe
Christina Seebode
Antje Apel
P2860cites workThe founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activityQ55670948
Xeroderma pigmentosum complementation group G--report of two casesQ69200444
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigreeQ74107895
A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi familyQ79775744
Structure of the DNA repair and replication endonuclease and exonuclease FEN-1: coupling DNA and PCNA binding to FEN-1 activityQ22003979
Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repairQ22008786
Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosomeQ24290949
Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repairQ24304166
Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damageQ24306173
The DNA repair endonuclease XPG binds to proliferating cell nuclear antigen (PCNA) and shares sequence elements with the PCNA-binding regions of FEN-1 and cyclin-dependent kinase inhibitor p21Q24313616
Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) proteinQ24317182
The comings and goings of nucleotide excision repair factors on damaged DNAQ24672395
Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG functionQ24678938
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase etaQ28115711
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patientQ28240020
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophyQ28272049
Sequential assembly of the nucleotide excision repair factors in vivoQ28610121
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancyQ32067170
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophyQ33333583
Dissociation of CAK from core TFIIH reveals a functional link between XP-G/CS and the TFIIH disassembly stateQ33603063
Cockayne syndrome and xeroderma pigmentosumQ34143455
The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphismsQ35085116
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.Q35834957
Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG.Q37031123
Coordination of dual incision and repair synthesis in human nucleotide excision repairQ37196140
Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damageQ37684033
Cyclosporin A, but not everolimus, inhibits DNA repair mediated by calcineurin: implications for tumorigenesis under immunosuppressionQ39591754
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patientsQ40139706
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.Q40725971
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cellsQ41927657
A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneityQ42436316
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patientsQ42443501
The spacer region of XPG mediates recruitment to nucleotide excision repair complexes and determines substrate specificityQ45345104
P4510describes a project that usesXP165MAQ54994889
XP40GOQ54994943
XP72MAQ54994963
XP3BRQ54838159
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectcell lineQ21014462
P304page(s)1841-1849
P577publication date2013-01-31
P1433published inJournal of Investigative DermatologyQ3186921
P1476titleCharacterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription
P478volume133

Reverse relations

described by source (P1343)
Q54994889XP165MA
Q54838159XP3BR
Q54994943XP40GO
Q54994963XP72MA

cites work (P2860)
Q35417945A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype
Q27312602Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency
Q40589950Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients
Q33765183Clinical utility gene card for: Xeroderma pigmentosum
Q42112224Crystal structure of the catalytic core of Rad2: insights into the mechanism of substrate binding
Q36658965Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect
Q36226501Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population
Q35277406Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population
Q36098651Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
Q64264181Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype
Q53469897Identification of a novel mutation confirms phenotypic variability of mutant XPG truncations.
Q39321303Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree
Q49473342Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine
Q39393194Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Q38719028XPF knockout via CRISPR/Cas9 reveals that ERCC1 is retained in the cytoplasm without its heterodimer partner XPF.
Q37736827Xeroderma pigmentosum-Cockayne syndrome complex

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