REPAIRtoire - a database of DNA repair pathways

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First author	Title	PubMed ID
Matsubara M	Mutational analysis of the damage-recognition and catalytic mechanism of human SMUG1 DNA glycosylase.	15466595
Kobayashi K	Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.	8609062
Garcia MJ	Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.	19737859
Laugel V	Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.	19894250
Heikkinen K	Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.	14684699
Laroche T	Mutation of yeast Ku genes disrupts the subnuclear organization of telomeres.	9635192
Budzowska M	Mutation of the mouse Rad17 gene leads to embryonic lethality and reveals a role in DNA damage-dependent recombination.	15297881
Hudson G	Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.	17420318
Sung P	Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP.	2846277
Sung P	Mutation of cysteine-88 in the Saccharomyces cerevisiae RAD6 protein abolishes its ubiquitin-conjugating activity and its various biological functions.	2157209
Papadopoulos N	Mutation of a mutL homolog in hereditary colon cancer.	8128251
Ross-Macdonald P	Mutation of a meiosis-specific MutS homolog decreases crossing over but not mismatch correction.	8001134
He X	Mutation of a conserved active site residue converts tyrosyl-DNA phosphodiesterase I into a DNA topoisomerase I-dependent poison.	17707402
Takashima H	Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.	12244316
Bourdon A	Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.	17486094
Yee NS	Mutation of RNA Pol III subunit rpc2/polr3b Leads to Deficiency of Subunit Rpc11 and disrupts zebrafish digestive development.	18044988
Van Goethem G	Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.	11431686
Edelmann W	Mutation in the mismatch repair gene Msh6 causes cancer susceptibility.	9390556
Bronner CE	Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.	8145827
Wang Y	Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice.	15965476
Ogi T	Mutation enhancement by DINB1, a mammalian homologue of the Escherichia coli mutagenesis protein dinB.	10620008
Nishijo K	Mutation analysis of the RECQL4 gene in sporadic osteosarcomas.	15221963
Cederquist K	Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.	14961575
Verlander PC	Mutation analysis of the Fanconi anemia gene FACC.	8128956
Allinen M	Mutation analysis of the CHK2 gene in families with hereditary breast cancer.	11461078

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