REPAIRtoire - a database of DNA repair pathways

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First author	Title	PubMed ID
Crow YJ	Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus.	16845398
Lee-Kirsch MA	Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.	17660818
Coin F	Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.	9771713
Kobayashi T	Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.	9101292
Lombard DB	Mutations in the WRN gene in mice accelerate mortality in a p53-null background.	10757812
Nahari D	Mutations in the Trp53 gene of UV-irradiated Xpc mutant mice suggest a novel Xpc-dependent DNA repair process.	15010313
Matsuda M	Mutations in the RAD54 recombination gene in primary cancers.	10362365
Varon R	Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).	11325820
Barnes DE	Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.	1581963
Castilla LH	Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.	7894491
Katagiri T	Mutations in the BRCA1 gene in Japanese breast cancer patients.	8723683
Crone TM	Mutations in human O6-alkylguanine-DNA alkyltransferase imparting resistance to O6-benzylguanine.	7954470
Glick E	Mutations in human DNA polymerase eta motif II alter bypass of DNA lesions.	11743006
Ivanov EL	Mutations in XRS2 and RAD50 delay but do not prevent mating-type switching in Saccharomyces cerevisiae.	8164689
Schimenti JC	Mutations in Serac1 or Synj2 cause proximal t haplotype-mediated male mouse sterility but not transmission ratio distortion.	15722415
Chevillard S	Mutations in OGG1, a gene involved in the repair of oxidative DNA damage, are found in human lung and kidney tumours.	9662341
Dong X	Mutations in CHEK2 associated with prostate cancer risk.	12533788
Li A	Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.	10817650
McConville CM	Mutations associated with variant phenotypes in ataxia-telangiectasia.	8755918
Couch FJ	Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core.	8807330
Hsu IC	Mutational hotspot in the p53 gene in human hepatocellular carcinomas.	1849234
Montera M	Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.	10882759
Miyamoto I	Mutational analysis of the structure and function of the xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair.	1601884
Mary JL	Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.	7874129
Sasaki S	Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system.	9067757

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