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Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes

scientific article published on May 15, 2003

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Europe PubMed Central

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6 August 2017

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Europe PubMed Central

Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes (English)

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Europe PubMed Central

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6 August 2017

genetic predisposition to disease

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12714187

27 December 2023

amino acid replacement

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27 December 2023

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27 December 2023

genetic variation

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based on heuristic

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Harvey W. Mohrenweiser

1

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Europe PubMed Central

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27 December 2023

David M. Wilson

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27 December 2023

Irene M. Jones

3

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1 May 2003

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6 August 2017

15 May 2003

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27 December 2023

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10.1016/S0027-5107(03)00049-6

https://api.crossref.org/works/10.1016/S0027-5107(03)00049-6

27 December 2023

https://api.elsevier.com/content/article/PII:S0027510703000496?httpAccept=text/plain

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10.1016/S0027-5107(03)00049-6

https://api.crossref.org/works/10.1016/S0027-5107(03)00049-6

27 December 2023

Mutation Research

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6 August 2017

526

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6 August 2017

1-2

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6 August 2017

93-125

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Europe PubMed Central

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6 August 2017

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

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A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1

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Sequence diversity in 36 candidate genes for cardiovascular disorders

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Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population

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Familial aggregation: sorting susceptibility from shared environment

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Polygenic susceptibility to breast cancer and implications for prevention

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7 January 2021

Genome maintenance mechanisms for preventing cancer

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7 January 2021

Quality control by DNA repair

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7 January 2021

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1 reference

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7 January 2021

Human DNA repair genes

1 reference

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7 January 2021

DNA repair/pro-apoptotic dual-role proteins in five major DNA repair pathways: fail-safe protection against carcinogenesis

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7 January 2021

Human DNA repair genes

1 reference

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O6-alkylguanine-DNA alkyltransferase: role in carcinogenesis and chemotherapy

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7 January 2021

Clinical relevance of MGMT in the treatment of cancer

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7 January 2021

Functional interactions and signaling properties of mammalian DNA mismatch repair proteins

1 reference

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7 January 2021

Molecular mechanisms of DNA mismatch repair

1 reference

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7 January 2021

DNA mismatch repair and mutation avoidance pathways

1 reference

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7 January 2021

Strand-specific Mismatch Repair in Mammalian Cells

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7 January 2021

Human exonuclease I is required for 5' and 3' mismatch repair

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7 January 2021

Mismatch repair and the hereditary non-polyposis colorectal cancer syndrome (HNPCC)

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7 January 2021

Mismatch repair defects as a cause of resistance to cytotoxic drugs

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7 January 2021

Instability and decay of the primary structure of DNA

1 reference

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7 January 2021

Recent progress in the biology, chemistry and structural biology of DNA glycosylases

1 reference

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7 January 2021

The major human abasic endonuclease: formation, consequences and repair of abasic lesions in DNA.

1 reference

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7 January 2021

XRCC1 keeps DNA from getting stranded

1 reference

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7 January 2021

Structure and function of mammalian DNA ligases

1 reference

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7 January 2021

Mammalian base excision repair and DNA polymerase beta

1 reference

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7 January 2021

Molecular mechanism of PCNA-dependent base excision repair

1 reference

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7 January 2021

Suppression of spontaneous mutagenesis in human cells by DNA base excision-repair

1 reference

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7 January 2021

Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents

1 reference

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7 January 2021

Interaction between PCNA and DNA ligase I is critical for joining of Okazaki fragments and long-patch base-excision repair

1 reference

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7 January 2021

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

1 reference

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7 January 2021

How nucleotide excision repair protects against cancer

1 reference

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7 January 2021

Damage recognition in nucleotide excision repair of DNA.

1 reference

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7 January 2021

Nucleotide excision repair and human syndromes

1 reference

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7 January 2021

Nucleotide excision repair: from E. coli to man.

1 reference

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7 January 2021

Effect of DNA lesions on transcription elongation

1 reference

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7 January 2021

Mechanisms of transcription-coupled DNA repair

1 reference

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7 January 2021

Genomic heterogeneity of nucleotide excision repair

1 reference

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7 January 2021

UV damage, DNA repair and skin carcinogenesis

1 reference

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7 January 2021

Xeroderma pigmentosum--bridging a gap between clinic and laboratory.

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7 January 2021

Recombination at double-strand breaks and DNA ends: conserved mechanisms from phage to humans.

1 reference

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7 January 2021

Partners and pathwaysrepairing a double-strand break.

1 reference

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7 January 2021

Double-strand breaks and tumorigenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

DNA double-strand break repair by homologous recombination

1 reference

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7 January 2021

Role of the human RAD51 protein in homologous recombination and double-stranded-break repair

1 reference

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7 January 2021

Homologous DNA recombination in vertebrate cells

1 reference

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7 January 2021

Homologous recombinational repair of DNA ensures mammalian chromosome stability

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Binding of double-strand breaks in DNA by human Rad52 protein

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Tethering on the brink: the evolutionarily conserved Mre11-Rad50 complex

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

DNA double-strand break repair from head to tail

1 reference

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7 January 2021

New glimpses of an old machine

1 reference

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7 January 2021

The RAD2 domain of human exonuclease 1 exhibits 5' to 3' exonuclease and flap structure-specific endonuclease activities

1 reference

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7 January 2021

Human Mus81-associated endonuclease cleaves Holliday junctions in vitro

1 reference

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7 January 2021

Cancer susceptibility and the functions of BRCA1 and BRCA2

1 reference

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7 January 2021

Recombinational DNA repair and human disease

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7 January 2021

DNA repair: how Ku makes ends meet.

1 reference

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7 January 2021

The biochemistry and biological significance of nonhomologous DNA end joining: an essential repair process in multicellular eukaryotes

1 reference

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7 January 2021

Reconstitution of the mammalian DNA double-strand break end-joining reaction reveals a requirement for an Mre11/Rad50/NBS1-containing fraction

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7 January 2021

Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity

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7 January 2021

DNA structure dependent checkpoints as regulators of DNA repair

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7 January 2021

Sensing and repairing DNA double-strand breaks

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7 January 2021

Toward maintaining the genome: DNA damage and replication checkpoints

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7 January 2021

The Mre11 complex: at the crossroads of dna repair and checkpoint signalling

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7 January 2021

Replication of damaged DNA in mammalian cells: new solutions to an old problem

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7 January 2021

The Mre11 complex and ATM: collaborating to navigate S phase

1 reference

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7 January 2021

Eukaryotic DNA polymerases: proposal for a revised nomenclature.

1 reference

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7 January 2021

Specialized DNA polymerases, cellular survival, and the genesis of mutations

1 reference

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7 January 2021

Error-prone repair DNA polymerases in prokaryotes and eukaryotes

1 reference

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7 January 2021

Translesion DNA synthesis in eukaryotes: a one- or two-polymerase affair

1 reference

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7 January 2021

Single nucleotide polymorphism analyses of the human proliferating cell nuclear antigen (pCNA) and flap endonuclease (FEN1) genes

1 reference

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7 January 2021

Global analysis of ATM polymorphism reveals significant functional constraint

1 reference

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7 January 2021

DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene

1 reference

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7 January 2021

Sequence variation in the human angiotensin converting enzyme

1 reference

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7 January 2021

Benzo[a]pyrene diol epoxide and bleomycin sensitivity and susceptibility to cancer of upper aerodigestive tract

1 reference

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7 January 2021

Inherited susceptibility to bleomycin-induced chromatid breaks in cultured peripheral blood lymphocytes

1 reference

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7 January 2021

Heritability of cellular radiosensitivity: a marker of low-penetrance predisposition genes in breast cancer?

1 reference

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7 January 2021

Markers of DNA repair and susceptibility to cancer in humans: an epidemiologic review

1 reference

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7 January 2021

The challenges of translating knockout phenotypes into gene function

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7 January 2021

Importance of DNA repair in carcinogenesis: evidence from transgenic and gene targeting studies

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7 January 2021

Transgenic systems in studies on genotoxicity of alkylating agents: critical lesions, thresholds and defense mechanisms.

1 reference

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7 January 2021

Cancer predisposition in mutant mice defective in multiple genetic pathways: uncovering important genetic interactions

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7 January 2021

Enhanced tumor formation in mice heterozygous for Blm mutation

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7 January 2021

Haploinsufficiency of Flap endonuclease (Fen1) leads to rapid tumor progression

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7 January 2021

Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer.

1 reference

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7 January 2021

Atm heterozygous mice are more sensitive to radiation-induced cataracts than are their wild-type counterparts.

1 reference

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7 January 2021

Predisposition to lung tumorigenesis

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7 January 2021

Complexity of lung cancer modifiers: mapping of thirty genes and twenty-five interactions in half of the mouse genome.

1 reference

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7 January 2021

Manipulation of the mouse germline in the study of Min-induced neoplasia

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7 January 2021

A resistant genetic background leading to incomplete penetrance of intestinal neoplasia and reduced loss of heterozygosity in ApcMin/+ mice

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7 January 2021

Identification of the modifier of Min 2 (Mom2) locus, a new mutation that influences Apc-induced intestinal neoplasia.

1 reference

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7 January 2021

Genetic regulation of ionizing radiation sensitivity and breast cancer risk.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity

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7 January 2021

Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

1 reference

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7 January 2021

Predicting deleterious amino acid substitutions

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7 January 2021

Accounting for human polymorphisms predicted to affect protein function

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7 January 2021

SNP frequencies in human genes

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7 January 2021

SNPs, protein structure, and disease.

1 reference

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7 January 2021

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation

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7 January 2021

Prediction of deleterious human alleles

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7 January 2021

Human non-synonymous SNPs: server and survey

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Functional characterization of Ape1 variants identified in the human population

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7 January 2021

Effect of single mutations in the OGG1 gene found in human tumors on the substrate specificity of the Ogg1 protein

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7 January 2021

Excision of oxidatively damaged DNA bases by the human alpha-hOgg1 protein and the polymorphic alpha-hOgg1(Ser326Cys) protein which is frequently found in human populations

1 reference

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7 January 2021

Polymorphisms in DNA repair and environmental interactions

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7 January 2021

Second pathway for completion of human DNA base excision-repair: reconstitution with purified proteins and requirement for DNase IV (FEN1).

1 reference

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7 January 2021

Reconstitution of proliferating cell nuclear antigen-dependent repair of apurinic/apyrimidinic sites with purified human proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Reconstitution of human base excision repair with purified proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Reconstitution of the base excision repair pathway for 7,8-dihydro-8-oxoguanine with purified human proteins

1 reference

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7 January 2021

Long patch base excision repair with purified human proteins. DNA ligase I as patch size mediator for DNA polymerases delta and epsilon

1 reference

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7 January 2021

Mammalian abasic site base excision repair. Identification of the reaction sequence and rate-determining steps

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Mammalian DNA nucleotide excision repair reconstituted with purified protein components.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Reconstitution of damage DNA excision reaction from SV40 minichromosomes with purified nucleotide excision repair proteins.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Reconstitution of human DNA repair excision nuclease in a highly defined system

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Microelectrophoretic study of radiation-induced DNA damages in individual mammalian cells

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7 January 2021

A simple technique for quantitation of low levels of DNA damage in individual cells

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7 January 2021

The involvement of mammalian and plant FK506-binding proteins (FKBPs) in development

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Sequence analysis using logic regression.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Modeling cancer in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Mouse models for sporadic cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Technologically advanced cancer modeling in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Cancer modeling in the modern era: progress and challenges

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Comparison of the role of dopamine, serotonin, and noradrenaline genes in ADHD, ODD and conduct disorder: multivariate regression analysis of 20 genes

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

D2 dopamine receptor and GABAA receptor β3 subunit genes and alcoholism

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Statistical Modeling: The Two Cultures (with comments and a rejoinder by the author)

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Biobanks. Population databases boom, from Iceland to the U.S.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900049-6

7 January 2021

Common nonsense mutations in RAD52

77

1 reference

10.1016/S0027-5107(03)00049-6

https://api.crossref.org/works/10.1016/S0027-5107(03)00049-6

27 December 2023

Elevated breast cancer risk in irradiated BALB/c mice associates with unique functional polymorphism of the Prkdc (DNA-dependent protein kinase catalytic subunit) gene

99

1 reference

10.1016/S0027-5107(03)00049-6

https://api.crossref.org/works/10.1016/S0027-5107(03)00049-6

27 December 2023

Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: genotype-specific effects on cancer predisposition and pathology of tumors

101

1 reference

10.1016/S0027-5107(03)00049-6

https://api.crossref.org/works/10.1016/S0027-5107(03)00049-6

27 December 2023

Polymorphisms in DNA repair genes and associations with cancer risk

107

1 reference

10.1016/S0027-5107(03)00049-6

https://api.crossref.org/works/10.1016/S0027-5107(03)00049-6

27 December 2023

Identifiers

10.1016/S0027-5107(03)00049-6

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

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