Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

scientific article

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3 is …
instance of (P31):
scholarly articleQ13442814

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P3181OpenCitations bibliographic resource ID4724873
P932PMC publication ID1918172
P698PubMed publication ID8304337

P50authorJan HoeijmakersQ15820773
P2093author name stringG Weeda
D Bootsma
W Vermeulen
C F Arlett
R J Scott
W J Kleijer
J Cole
S Rodgers
H J Müller
P2860cites workA Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair geneQ47071558
SSL2, a suppressor of a stem-loop mutation in the HIS4 leader encodes the yeast homolog of human ERCC-3Q48169666
Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset formQ48709124
Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patientsQ53438310
Mutagenic DNA repair in Escherichia coli. XXI. A stable SOS-inducing signal persisting after excision repair of ultraviolet damage.Q54257892
A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-CQ54275103
A further assessment of factors influencing measurements of thioguanine-resistant mutant frequency in circulating T-lymphocytes.Q54387822
Genetic complementation between UV-sensitive CHO mutants and xeroderma pigmentosum fibroblasts.Q54449044
Workshop on DNA repairQ56944716
Xeroderma pigmentosum complementation group H falls into complementation group DQ68016717
Transient correction of excision repair defects in fibroblasts of 9 xeroderma pigmentosum complementation groups by microinjection of crude human cell extractsQ68874149
The cloned human DNA excision repair gene ERCC-1 fails to correct xeroderma pigmentosum complementation groups A through IQ69949766
DNA repair. Engagement with transcriptionQ70683866
Three complementation groups in Cockayne syndromeQ72687806
Impaired immune function in patients with xeroderma pigmentosumQ93593143
DNA sequencing with chain-terminating inhibitorsQ22066207
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndromeQ24306514
Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6Q24337556
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemiaQ27861076
Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group CQ28115748
ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genesQ28213725
Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2Q28268594
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5Q28268603
Molecular cloning of a human DNA repair geneQ28268869
Purification of mouse immunoglobulin heavy-chain messenger RNAs from total myeloma tumor RNAQ29547801
DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factorQ29619833
The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.Q33640104
Defective Repair Replication of DNA in Xeroderma PigmentosumQ34054000
Cockayne syndrome: Review of 140 casesQ34232807
Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosumQ34291583
Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiationQ35067081
Xeroderma pigmentosum complementation group G associated with Cockayne syndromeQ35194613
The residual repair capacity of xeroderma pigmentosum complementation group C fibroblasts is highly specific for transcriptionally active DNAQ35907237
Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair geneQ36767352
RAD25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viabilityQ37323177
Gene specific DNA repairQ37431201
Heterogeneity of DNA repair at the gene levelQ37683397
Sunlight-induced cancer: some new aspects and implications of the xeroderma pigmentosum modelQ37922262
Nucleotide excision repair. II: From yeast to mammalsQ40828389
Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophyQ41914628
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repairQ42440575
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectxeroderma pigmentosumQ612693
P304page(s)191-200
P577publication date1994-02-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleClinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
P478volume54

Reverse relations

cites work (P2860)
Q40495288A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer
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Q73866479[Genetically induced hair diseases]