Standout Papers

Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's sy... 1988 2026 2000 2013 84
  1. Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome. (1988)
    Alan R. Lehmann, Anne E. Willis et al. PubMed
  2. Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene (1992)
    Anthony Webster, Deborah E. Barnes et al. The Lancet

Citation Impact

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1978
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1996
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1994
Specific Function of DNA Ligase I in Simian Virus 40 DNA Replication by Human Cell-free Extracts Is Mediated by the Amino-terminal Non-catalytic Domain
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1998
Defects in a cell cycle checkpoint may be responsible for the genomic instability of cancer cells
1992 StandoutNobel
Increased Radiosensitivity and the Basic Defect in Ataxia Telangiectasia
1989
A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
1998
Replication Fork Bypass of a Pyrimidine Dimer Blocking Leading Strand DNA Synthesis
1997
Phenotypic correction of a human cell line (46BR) with aberrant DNA ligase I activity
1993
Creative blocks: cell-cycle checkpoints and feedback controls
1992 Nature
Telomere states and cell fates
2000 StandoutNatureNobel
(6-4) Photoproducts and not cyclobutane pyrimidine dimers are the main UV-induced mutagenic lesions in Chinese hamster cells
1992
Feedback controls and G2 checkpoints: Fission yeast as a model system
1993
When Checkpoints Fail
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Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents
1992 StandoutNobel
Radioresistant DNA synthesis and human genetic disease
1989
Degradation of Cdc25A by β-TrCP during S phase and in response to DNA damage
2003 StandoutNatureNobel
TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1
1995
Cancer Risk and the ATM Gene: a Continuing Debate
2000
Chromosomal stability and the DNA double-stranded break connection
2001
Relationship of CDK-activating kinase and RNA polymerase II CTD kinase TFIIH/TFIIK
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The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
1995
Transcription factor b (TFIIH) is required during nucleotide-excision repair in yeast
1994 StandoutNatureNobel
Telomere Dysfunction Increases Mutation Rate and Genomic Instability
2001 StandoutNobel
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The controlling role of ATM in homologous recombinational repair of DNA damage
2000
Overexpression of a kinase-inactive ATR protein causes sensitivity to DNA-damaging agents and defects in cell cycle checkpoints
1998
Molecular Structure of Human TFIIH
2000
Structures of Human Exonuclease 1 DNA Complexes Suggest a Unified Mechanism for Nuclease Family
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A temperature-sensitive disorder in basal transcription and DNA repair in humans
2001
Cockayne syndrome – a primary defect in DNA repair, transcription, both or neither?
1996
Different forms of TFIIH for transcription and DNA repair: Holo-TFIIH and a nucleotide excision repairosome
1995 StandoutNobel
Codominance associated with overexpression of certain XPD mutations
2001
Human nucleotide excision repair syndromes: Molecular clues to unexpected intricacies
1994
Problems and paradigms: Fine tuning of DNA repair in transcribed genes: Mechanisms, prevalence and consequences
1993
Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH
1998
Mechanism of open complex and dual incision formation by human nucleotide excision repair factors
1997
Cdk1-Dependent Phosphorylation of Cdc13 Coordinates Telomere Elongation during Cell-Cycle Progression
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ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
1992
Cockayne syndrome: Review of 140 cases
1992
XPG endonuclease makes the 3′ incision in human DNA nucleotide excision repair
1994 Nature
XPD Helicase Structures and Activities: Insights into the Cancer and Aging Phenotypes from XPD Mutations
2008
DNA Repair capacity and cisplatin sensitivity of human testis tumour cells
1997
DNA double-strand breaks: signaling, repair and the cancer connection
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Genome maintenance mechanisms for preventing cancer
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1999
Mutational Heterogeneity in Human Cancers: Origin and Consequences
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A Yeast Four-hybrid System Identifies Cdk-activating Kinase as a Regulator of the XPD Helicase, a Subunit of Transcription Factor IIH
2001
γH2AX and cancer
2008
The XPD complementation group
1992
Where transcription meets repair
1994 StandoutNobel
Structure of the human DNA ligast I gene
1992 StandoutNobel
Complementation of the xeroderma pigmentosum DNA repair synthesis defect withEscherichia coliUvrABC proteins in a cell-free system
1990 StandoutNobel
Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH
1999
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
2000
TFIIH with Inactive XPD Helicase Functions in Transcription Initiation but Is Defective in DNA Repair
2000
The Shortest Telomere, Not Average Telomere Length, Is Critical for Cell Viability and Chromosome Stability
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The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response
1998
DNA-PKcs has KU-dependent function in rRNA processing and haematopoiesis
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Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia
1991
DNA ligase I is required for fetal liver erythropoiesis but is not essential for mammalian cell viability
1996
Two Types of DNA Ligase I Activity in Lymphoblastoid Cells from Patients with Bloom's Syndrome
1991
The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene
1995
Identification of Saccharomyces cerevisiae DNA ligase IV: involvement in DNA double-strand break repair
1997
Reconstitution of the Transcription Factor TFIIH
1999
DNA double strand break repair in mammalian cells
2000
Xeroderma pigmentosum complementation group H falls into complementation group D
1991
The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases
2001
Flow cytometric analysis of X-ray sensitivity in ataxia telangiectasia
1989
Molecular mechanism of nucleotide excision repair
1999
AID is required to initiate Nbs1/γ-H2AX focus formation and mutations at sites of class switching
2001 StandoutNatureNobel
Structure of the DNA Repair Helicase XPD
2008
The effects of ionizing radiation on cell cycle progression in ataxia telangiectasia
1984
Genetic complementation between UV-sensitive CHO mutants and xeroderma pigmentosum fibroblasts
1985
Repair of ultraviolet radiation damage in xeroderma pigmentosum cells belonging to complementation group F
1981
Failure of RNA synthesis to recover after UV irradiation; An early defect in cells from individuals with Cockayne syndrome and xeroderma pigmentosum
1982
Three complementation groups in Cockayne syndrome
1982
Microinjection of Micrococcus luteus UV-endonuclease restores UV-induced unscheduled DNA synthesis in cells of 9 xeroderma pigmentosum complementation groups
1985
Effects of X-irradiation on cell-cycle progression, induction of chromosomal aberrations and cell killing in ataxia telangiectasia (AT) fibroblasts
1985
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
1996
The ATM homologue MEC1 is required for phosphorylation of replication protein A in yeast
1996
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
1992
Genetics and cancer
1980
The intracellular signal for induction of resistance to alkylating agents in E. coli
1986 StandoutNobel
Architecture of an RNA Polymerase II Transcription Pre-Initiation Complex
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Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I
1994 StandoutNobel
Checkpoints: Controls That Ensure the Order of Cell Cycle Events
1989 StandoutScienceNobel
DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.
1993 StandoutNobel
Restoration of Nucleotide Excision Repair in a Helicase-Deficient XPD Mutant from Intragenic Suppression by a Trichothiodystrophy Mutation
2001 StandoutNobel
Cell Death, Chromosome Damage and Mitotic Delay in Normal Human, Ataxia Telangiectasia and Retinoblastoma Fibroblasts after X-irradiation
1981
Near-ultraviolet sensitivity of skin fibroblasts of patients with bloom's syndrome
1981
Mechanism by which caffeine potentiates lethality of nitrogen mustard.
1982
Different substrate specificities of the two DNA ligases of mammalian cells.
1986 StandoutNobel
DNA ligase I deficiency in Bloom's syndrome
1987 StandoutNatureNobel
Abnormal sensitivity to UV‐radiation in cultured skin ibroblasts from patients with hereditary cutaneous malignant melanoma and dysplastic nevus syndrome
1982
Quality Control by DNA Repair
1999 StandoutScienceNobel
Mechanisms of DNA Excision Repair
1994 StandoutScienceNobel
Specific association between the human DNA repair proteins XPA and ERCC1.
1994
Expression of a Retrovirus Encoding Human HPRT in Mice
1984 Science
Genetic complementation groups in Cockayne syndrome
1981
Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH).
1994
Ataxia-telangiectasia and cellular responses to DNA damage.
1995
Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe.
1993
Molecular Cloning and Expression of Human cDNAs Encoding a Novel DNA Ligase IV and DNA Ligase III, an Enzyme Active in DNA Repair and Recombination
1995 StandoutNobel
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
1987 Standout
Response to RAG-Mediated V(D)J Cleavage by NBS1 and γ-H2AX
2000 Science
Cell Cycle Control and Cancer
1994 StandoutScienceNobel
On the Nature of a Defect in Cells from Individuals with Ataxia-Telangiectasia
1985 Science
Induction and autoregulation of ada, a positively acting element regulating the response of Escherichia coli K-12 to methylating agents
1985
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
1999
The RAD9 Gene Controls the Cell Cycle Response to DNA Damage in Saccharomyces cerevisiae
1988 StandoutScienceNobel
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.
1998
Impaired Translesion Synthesis in Xeroderma Pigmentosum Variant Extracts
1999
Repair of alkylated DNA in Escherichia coli. Physical properties of O6-methylguanine-DNA methyltransferase.
1982 StandoutNobel
ERCC4 (XPF) Encodes a Human Nucleotide Excision Repair Protein with Eukaryotic Recombination Homologs
1996 StandoutNobel
Hypersensitivity of Bloom's syndrome fibroblasts to N-ethyl-N-nitrosourea
1987
Evidence for Replicative Repair of DNA Double-Strand Breaks Leading to Oncogenic Translocation and Gene Amplification
2002
The cloned human DNA excision repair gene ERCC-1 fails to correct xeroderma pigmentosum complementation groups A through I.
1989
The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.
1990
Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins.
1994
The Role of DNA Repair and Somatic Mutation in Carcinogenesis
1975
Host-cell reactivation of cis-diamminedichloroplatinum(II)-treated SV40 DNA in normal human, Fanconi anaemia and xeroderma pigmentosum fibroblasts
1984
A potential animal model for Lesch–Nyhan syndrome through introduction of HPRT mutations into mice
1987 StandoutNatureNobel
Viruses in Human Cancers
1991 StandoutScienceNobel
Perturbations of cell-cycle progression in γ-irradiated ataxia telangiectasia and Huntington's disease cells detected by DNA flow cytometric analysis
1983
The expression of the Escherichia coli uvrA gene in human cells
1988
The N-terminal domain of human DNA ligase I contains the nuclear localization signal and directs the enzyme to sites of DNA replication.
1995
Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.
1994 StandoutNobel
The Molecular Genetics of Cancer
1987 StandoutScienceNobel
Reconstitution of complete SV40 DNA replication with purified replication factors.
1994
Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker
1986
3 Xeroderma pigmentosum and related disorders: Defects in DNA repair and transcription
2001
Genetic diversity of UV-sensitive DNA repair mutants of Chinese hamster ovary cells.
1981
Radiosensitivity in ataxia-telangiectasia: a new explanation.
1980
Rejoining Kinetics of DNA Single- and Double-Strand Breaks in Normal and DNA Ligase-Deficient Cells after Exposure to Ultraviolet C and Gamma Radiation: An Evaluation of Ligating Activities Involved in Different DNA Repair Processes
1999
Functional Intersection of ATM and DNA-Dependent Protein Kinase Catalytic Subunit in Coding End Joining during V(D)J Recombination
2013
Testing the Role of p53 in the Expression of Genetic Instability and Apoptosis in Ataxia-telangiectasia
1994
Integrating Genetic Approaches into the Discovery of Anticancer Drugs
1997 StandoutScienceNobel
The Primary Immunodeficiencies
1984
De novo methylation of the MyoD1 CpG island during the establishment of immortal cell lines.
1990
Mammalian DNA Ligase III: Molecular Cloning, Chromosomal Localization, and Expression in Spermatocytes Undergoing Meiotic Recombination
1995
DNA Ligase I Mediates Essential Functions in Mammalian Cells
1995
Validation of conditions for efficient detection of HPRT and APRT mutations in suspension-cultured chinese hamster ovary cells
1980
De novo design of protein logic gates
2020 StandoutScienceNobel
Defective Lymphoid Development in Mice Lacking Jak3
1995 StandoutScienceNobel
A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells.
1991
Xeroderma pigmentosum patients from the federal Republic of Germany: Decrease in post-UV colony-forming ability in 30 xeroderma pigmentosum fibroblast strains is quantitatively correlated with a decrease in DNA-incising capacity
1985
Cockayne syndrome group B protein enhances elongation by RNA polymerase II
1997 StandoutNobel

Works of C.F. Arlett being referenced

Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.
1988 StandoutNobel
Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia
1999
A seventh complementation group in excision-deficient xeroderma pigmentosum
1979
Ethyl methanesulphonate mutagenesis with L5178Y mouse lymphoma cells: A comparison of ouabain, thioguanine and excess thymidine resistance
1976
The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet-light irradiation
1975
Expression time and spontaneous mutability in the estimation of induced mutation frequency following treatment of chinese hamster cells by ultraviolet light
1972
Molecular analysis of ultraviolet-induced mutations in a xeroderma pigmentosum cell line
1991
Differential Sensitivities to Gamma Radiation of Human Bladder and Testicular Tumour Cell Lines
1988
DNA double-strand break repair defects in syndromes associated with acute radiation response: At least two different assays to predict intrinsic radiosensitivity?
2008
Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene
1992 StandoutNobel
Comparative Human Cellular Radiosensitivity: II. The Survival Following Gamma-irradiation of Unstimulated (G0) T-lymphocytes, T-lymphocyte Lines, Lymphoblastoid Cell Lines and Fibroblasts from Normal Donors, from Ataxia-telangiectasia Patients and from Ataxia-telangiectasia Heterozygotes
1988
Radiation-induced DNA double-strand breaks and the radiosensitivity of human cells: A closer look
1997
Three Unusual Repair Deficiencies Associated with Transcription Factor BTF2(TFIIH): Evidence for the Existence of a Transcription Syndrome
1994
Comparative Human Cellular Radiosensitivity: I. The Effect of SV40 Transformation and Immortalisation on the Gamma-irradiation Survival of Skin Derived Fibroblasts from Normal Individuals and from Ataxia-telangiectasia Patients and Heterozygotes
1988
Immune Function, Mutant Frequency, and Cancer Risk in the DNA Repair Defective Genodermatoses Xeroderma Pigmentosum, Cockayne's Syndrome, and Trichothiodystrophy
1990
Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient
1999
Xeroderma Pigmentosum Variant: 5 Years of Tumour Suppression by Etretinate
1993
Ultraviolet-B-Induced Apoptosis and Cytokine Release in Xeroderma Pigmentosum Keratinocytes
2000
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair
1992
A Gamma-Ray-Resistant Derivative of an Ataxia Telangiectasia Cell Line Obtained Following DNA-Mediated Gene Transfer
1987
Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: Studies using cells from patients with trichothiodystrophy
1990
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of slun tumors despite severe deficiency of DNA excision repair
1993
Abnormal erythemal response and elevated T lymphocyte HRPT mutant frequency in Cockayne's syndrome
1991
Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation
1980
Use of Fluorescencein SituHybridization to Determine the Relationship between Chromosome Aberrations and Cell Survival in Eight Human Fibroblast Strains
1995
Dose-rate effect on induction and repair rate of radiation-induced DNA double-strand breaks in a normal and an ataxia telangiectasia human fibroblast cell line
1995
Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light
1980
Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immuno-deficiencies
1983
Normal cellular immunity in Cockayne's syndrome: evidence for the role of defective immunosurveillance in the causation of skin cancer
1988
An adaptive response to the cytotoxic effects of N-methyl-N-nitrosourea is apparently absent in normal human fibroblasts
1982
V(D)J recombination in ataxia telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder.
1993
A Human Subject with A New Defect in Repair of Ultraviolet Damage
1978
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
1986
The response of a variety of human fibroblast cell strains to the lethal effects of alkylating agents
1982
Defective Recovery from Potentially Lethal Damage in Some Human Fibroblast Cell Strains
1983
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD ( ERCC 2) repair/transcription gene
1997
Survey of radiosensitivity in a variety of human cell strains.
1980
A Derivative of an Ataxia-telangiectasia (A-T) Cell Line with Normal Radiosensitivity but A-T-like Inhibition of DNA Synthesis
1985
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
1977
Cells from an immunodeficient patient (46BR) with a defect in DNA ligation are hypomutable but hypersensitive to the induction of sister chromatid exchanges.
1985
Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity
1975 Nature
Inactivation of a Transfected Gene in Human Fibroblasts Can Occur by Deletion, Amplification, Phenotypic Switching, or Methylation
1987
Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals
1997
Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light.
1988
Induction of cyclobutane pyrimidine dimers, pyrimidine(6-4)pyrimidone photoproducts, and Dewar valence isomers by natural sunlight in normal human mononuclear cells.
1995
Observations on the growth in vitro of myeloid progenitor cells and fibroblasts from hemizygotes and heterozygotes for “complete” and “partial” hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, and their relevance to the pathogenesis of brain damage in the Lesch-Nyhan syndrome
1974
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.
1993
Inactivation of a transfected gene in human fibroblasts can occur by deletion, amplification, phenotypic switching, or methylation.
1987
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