Published in Proc Natl Acad Sci U S A on April 01, 1982
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. Am J Hum Genet (2007) 2.14
A DNA end-binding factor involved in double-strand break repair and V(D)J recombination. Mol Cell Biol (1994) 2.05
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet (1997) 1.41
Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia. Am J Hum Genet (1988) 1.33
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet (1993) 1.31
Variant forms of ataxia telangiectasia. J Med Genet (1987) 1.19
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat (2008) 1.18
Rad21-cohesin haploinsufficiency impedes DNA repair and enhances gastrointestinal radiosensitivity in mice. PLoS One (2010) 1.16
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am J Hum Genet (1989) 1.11
The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor. Proc Natl Acad Sci U S A (1995) 1.10
Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region. Am J Hum Genet (1990) 1.10
Cloning of a candidate gene for ataxia-telangiectasia group D. Am J Hum Genet (1992) 1.09
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair (Amst) (2008) 1.06
Evidence for an elevated frequency of in vivo somatic cell mutations in ataxia telangiectasia. Am J Hum Genet (1989) 1.05
Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24. Am J Hum Genet (1997) 1.04
Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage. DNA Repair (Amst) (2007) 1.01
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. Am J Hum Genet (1998) 0.96
Abnormal pattern of post-gamma-ray DNA replication in radioresistant fibroblast strains from affected members of a cancer-prone family with Li-Fraumeni syndrome. Br J Cancer (1995) 0.90
Evidence that defective gamma interferon production in patients with primary immunodeficiencies is due to intrinsic incompetence of lymphocytes. Clin Exp Immunol (1988) 0.88
UV-induced histone H2AX phosphorylation and DNA damage related proteins accumulate and persist in nucleotide excision repair-deficient XP-B cells. DNA Repair (Amst) (2010) 0.88
Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons. Am J Hum Genet (1997) 0.87
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients. Hum Mutat (2010) 0.85
Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome. J Med Genet (1989) 0.76
Tumor cell complementation groups based on myogenic potential: evidence for inactivation of loci required for basic helix-loop-helix protein activity. Mol Cell Biol (1996) 0.76
Radiosensitivity in ataxia-telangiectasia: a new explanation. Proc Natl Acad Sci U S A (1980) 4.64
Defective excision repair of gamma-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts. Nature (1976) 1.90
Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells. Nucleic Acids Res (1980) 1.62
A seventh complementation group in excision-deficient xeroderma pigmentosum. Mutat Res (1979) 1.45
Ataxia telangiectasia: an inherited human disorder involving hypersensitivity to ionizing radiation and related DNA-damaging chemicals. Annu Rev Genet (1979) 1.25
Unusual levels of (ADP-ribose)n and DNA synthesis in ataxia telangiectasia cells following gamma-ray irradiation. Nature (1980) 1.18
Semi-conservative deoxyribonucleic acid synthesis in unirradiated and ultraviolet-irradiated xeroderma pigmentosum and normal human skin fibroblasts. Mutat Res (1977) 1.14
The rate of DNA synthesis in normal human and ataxia telangiectasia cells after exposure to X-irradiation. Mutat Res (1981) 0.97
Complement analysis of xeroderma pigmentosum variants. Exp Cell Res (1981) 0.91
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science (1995) 15.20
Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol Cell (1998) 9.41
Mammalian Cry1 and Cry2 are essential for maintenance of circadian rhythms. Nature (1999) 7.86
A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature (1982) 5.95
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell (1999) 5.44
Molecular mechanism of nucleotide excision repair. Genes Dev (1999) 5.27
ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell (1992) 4.80
Disruption of mouse RAD54 reduces ionizing radiation resistance and homologous recombination. Cell (1997) 4.78
Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Natl Acad Sci U S A (1975) 4.02
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature (1988) 3.82
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell (1996) 3.81
Molecular cloning of a human DNA repair gene. Nature (1984) 3.50
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell (1990) 3.48
Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. Nature (1984) 3.24
Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10. Cell (1986) 3.17
Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Curr Biol (1997) 2.99
Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J (1994) 2.94
Xeroderma pigmentosum: biochemical and genetic characteristics. Annu Rev Genet (1975) 2.69
International system for human gene nomenclature (1979) ISGN (1979). Cytogenet Cell Genet (1979) 2.58
Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6. Proc Natl Acad Sci U S A (1991) 2.53
RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6. EMBO J (1994) 2.46
Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F. EMBO J (1993) 2.45
Translocation of oncogene c-sis from chromosome 22 to chromosome 11 in a Ewing sarcoma-derived cell line. Mol Cell Biol (1985) 2.45
Regional mapping of the human immunoglobulin lambda light chain to the Philadelphia chromosome in chronic myeloid leukaemia. Leuk Res (1984) 2.44
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell (1997) 2.38
DNA-binding polarity of human replication protein A positions nucleases in nucleotide excision repair. Genes Dev (1998) 2.31
Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nat New Biol (1972) 2.28
Unique fusion of bcr and c-abl genes in Philadelphia chromosome positive acute lymphoblastic leukemia. Cell (1987) 2.27
DNA repair. Engagement with transcription. Nature (1993) 2.19
DNA structural elements required for ERCC1-XPF endonuclease activity. J Biol Chem (1998) 2.12
Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes male sterility associated with chromatin modification. Cell (1996) 2.08
Predominance of null mutations in ataxia-telangiectasia. Hum Mol Genet (1996) 2.06
Different inherited levels of DNA repair replication in xeroderma pigmentosum cell strains after exposure to ultraviolet irradiation. Mutat Res (1970) 2.03
The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex. EMBO J (1997) 1.97
Five complementation groups in xeroderma pigmentosum. Mutat Res (1975) 1.91
Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet (1988) 1.88
Loss of human genetic markers in man--Chinese hamster somatic cell hybrids. Nat New Biol (1971) 1.88
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A (1997) 1.87
Synchronization of mammalian cells in vitro by inhibition of the DNA synthesis. I. Optimal conditions. Exp Cell Res (1966) 1.70
Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. Hum Genet (1992) 1.68
Molecular genetics of eukaryotic DNA excision repair. Cancer Cells (1990) 1.65
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet (1994) 1.64
HHR23B, a human Rad23 homolog, stimulates XPC protein in nucleotide excision repair in vitro. Mol Cell Biol (1996) 1.63
Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH). EMBO J (1994) 1.60
Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein. Proc Natl Acad Sci U S A (1994) 1.59
Complementation analysis of ataxia-telangiectasia. Kroc Found Ser (1985) 1.58
Synchronization of mammalian cells in vitro by inhibition of the DNA synthesis. II. Population dynamics. Exp Cell Res (1966) 1.58
Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome. Cold Spring Harb Symp Quant Biol (1994) 1.57
Molecular cloning and biological characterization of the human excision repair gene ERCC-3. Mol Cell Biol (1990) 1.57
UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat Res (1973) 1.56
Mutational analysis of the human nucleotide excision repair gene ERCC1. Nucleic Acids Res (1996) 1.53
A third complementation group in xeroderma pigmentosum. Mutat Res (1974) 1.50
Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat Res (1991) 1.48
Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome. Mutat Res (1983) 1.46
A seventh complementation group in excision-deficient xeroderma pigmentosum. Mutat Res (1979) 1.45
A new chromosomal instability disorder confirmed by complementation studies. Clin Genet (1988) 1.45
Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. Oncogene (1995) 1.44
Dhr6, a Drosophila homolog of the yeast DNA-repair gene RAD6. Proc Natl Acad Sci U S A (1991) 1.43
Sequence conservation of the rad21 Schizosaccharomyces pombe DNA double-strand break repair gene in human and mouse. Genomics (1996) 1.43
The cloned human DNA excision repair gene ERCC-1 fails to correct xeroderma pigmentosum complementation groups A through I. Mutat Res (1989) 1.42
Identification and characterization of XPC-binding domain of hHR23B. Mol Cell Biol (1997) 1.42
Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts. Mutat Res (1999) 1.40
Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet Cell Genet (1977) 1.37
A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nat Genet (2001) 1.37
XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes. Nucleic Acids Res (1996) 1.36
Evolution and mutagenesis of the mammalian excision repair gene ERCC-1. Nucleic Acids Res (1988) 1.34
Molecular cloning of the human DNA excision repair gene ERCC-6. Mol Cell Biol (1990) 1.32
Tay-Sachs and Sandhoff's disease: intergenic complementation after somatic cell hybridization. Exp Cell Res (1974) 1.32
Genomic characterization of the human DNA excision repair gene ERCC-1. Nucleic Acids Res (1987) 1.31
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet (1993) 1.31
Two human homologs of Rad23 are functionally interchangeable in complex formation and stimulation of XPC repair activity. Mol Cell Biol (1997) 1.31
Mapping of interaction domains between human repair proteins ERCC1 and XPF. Nucleic Acids Res (1998) 1.28
A ninth complementation group in xeroderma pigmentosum, XP I. Mutat Res (1985) 1.26
Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B. Nucleic Acids Res (1993) 1.25
Incorporation of isolated chromosomes and induction of hypoxanthine phosphoribosyltransferase in Chinese hamster cells. Somatic Cell Genet (1975) 1.25
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. J Med Genet (1996) 1.22
Cloning, comparative mapping, and RNA expression of the mouse homologues of the Saccharomyces cerevisiae nucleotide excision repair gene RAD23. Genomics (1996) 1.22
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet (2001) 1.20
c-sis is translocated from chromosome 22 to chromosome 9 in chronic myelocytic leukemia. J Exp Med (1983) 1.19
Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas. Am J Hum Genet (1994) 1.13
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am J Hum Genet (1989) 1.11
Conserved pattern of antisense overlapping transcription in the homologous human ERCC-1 and yeast RAD10 DNA repair gene regions. Mol Cell Biol (1989) 1.10
Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene. Baillieres Clin Haematol (1992) 1.09
Mutational analysis of ERCC3, which is involved in DNA repair and transcription initiation: identification of domains essential for the DNA repair function. Mol Cell Biol (1994) 1.08
Cytological mapping of the genes assigned to the human A 1 chromosome by use of radiation-induced chromosome breakage in a human-Chinese hamster hybrid cell line. Humangenetik (1973) 1.06
Is the chromosomal region 9q34 always involved in variants of the Ph1 translocation? Cancer Genet Cytogenet (1984) 1.06
Cloning, tissue expression, and mapping of a human photolyase homolog with similarity to plant blue-light receptors. Genomics (1996) 1.04
Transfer of the human genes coding for thymidine kinase and galactokinase to Chinese hamster cells and human-Chinese hamster cell hybrids. Somatic Cell Genet (1977) 1.04
Transfection of the cloned human excision repair gene ERCC-1 to UV-sensitive CHO mutants only corrects the repair defect in complementation group-2 mutants. Mutat Res (1988) 1.03
Biological and biochemical consequences of the human ERCC-1 repair gene after transfection into a repair-deficient CHO cell line. Mutat Res (1987) 1.02
Clones of normal keratinocytes and a variety of simultaneously present epidermal neoplastic lesions contain a multitude of p53 gene mutations in a xeroderma pigmentosum patient. Cancer Res (1998) 1.02
Abnormal regulation of DNA replication and increased lethality in ataxia telangiectasia cells exposed to carcinogenic agents. Cancer Res (1982) 1.01
Xeroderma pigmentosum group A correcting protein from calf thymus. Mutat Res (1992) 1.00