Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain

scientific article

Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/NAR/GKH855
P932PMC publication ID524276
P698PubMed publication ID15475387
P5875ResearchGate publication ID8241247

P2093author name stringAaron R Ellison
Grant A Bitter
Joan Lofing
P2860cites workThe tyrosine kinase c-Abl regulates p73 in apoptotic response to cisplatin-induced DNA damageQ22010200
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instabilityQ22010995
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The evolutionarily conserved zinc finger motif in the largest subunit of human replication protein A is required for DNA replication and mismatch repair but not for nucleotide excision repairQ24321288
Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindredsQ24535557
Transformation of intact yeast cells treated with alkali cationsQ24672708
N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalphaQ24679608
Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repairQ27617873
Crystal structure and ATPase activity of MutL: implications for DNA repair and mutagenesisQ27766073
A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiaeQ27860636
Functional studies on the candidate ATPase domains of Saccharomyces cerevisiae MutLalpha.Q27929951
The Saccharomyces cerevisiae MLH3 gene functions in MSH3-dependent suppression of frameshift mutationsQ27935158
exo1-Dependent mutator mutations: model system for studying functional interactions in mismatch repairQ27935389
Differential ATP binding and intrinsic ATP hydrolysis by amino-terminal domains of the yeast Mlh1 and Pms1 proteinsQ27937399
Separation-of-function mutations in Saccharomyces cerevisiae MSH2 that confer mismatch repair defects but do not affect nonhomologous-tail removal during recombinationQ27938377
Evidence for involvement of yeast proliferating cell nuclear antigen in DNA mismatch repairQ27938608
Eukaryotic DNA mismatch repairQ27939116
Functional specificity of MutL homologs in yeast: evidence for three Mlh1-based heterocomplexes with distinct roles during meiosis in recombination and mismatch correctionQ27939611
Requirement for PCNA in DNA mismatch repair at a step preceding DNA resynthesisQ27939891
Mutation of a mutL homolog in hereditary colon cancerQ28114939
A ten-minute DNA preparation from yeast efficiently releases autonomous plasmids for transformation of Escherichia coliQ28131613
Regulatable promoters of Saccharomyces cerevisiae: comparison of transcriptional activity and their use for heterologous expressionQ28131772
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancerQ28137782
Proliferating cell nuclear antigen and Msh2p-Msh6p interact to form an active mispair recognition complexQ28142999
Mutations predisposing to hereditary nonpolyposis colorectal cancerQ28235642
The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switchQ28258968
Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancerQ28294774
MSH2 deficient mice are viable and susceptible to lymphoid tumoursQ28508486
Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repairQ28508905
Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymesQ28585862
Mutation in the mismatch repair gene Msh6 causes cancer susceptibilityQ28592583
The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switchQ28610649
Partial reconstitution of human DNA mismatch repair in vitro: characterization of the role of human replication protein AQ28610670
Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repairQ29615027
Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repairQ29618879
The distribution of the numbers of mutants in bacterial populationsQ29620123
Role of DNA mismatch repair and p53 in signaling induction of apoptosis by alkylating agents.Q30454407
A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.Q31146866
Genetic susceptibility to non-polyposis colorectal cancerQ33764029
Mismatch repair defects in cancerQ33885063
Interactions of Exo1p with components of MutLalpha in Saccharomyces cerevisiaeQ33933718
Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations.Q33957827
Mismatch repair processing of carcinogen-DNA adducts triggers apoptosisQ33960642
Isolation and characterization of point mutations in mismatch repair genes that destabilize microsatellites in yeastQ34012877
DNA mismatch repair and genetic instabilityQ34090778
Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalphaQ34123282
Deficient DNA mismatch repair: a common etiologic factor for colon cancerQ34189020
Systematic mutagenesis of the Saccharomyces cerevisiae MLH1 gene reveals distinct roles for Mlh1p in meiotic crossing over and in vegetative and meiotic mismatch repairQ34463536
Analysis of conditional mutations in the Saccharomyces cerevisiae MLH1 gene in mismatch repair and in meiotic crossing over.Q34614513
Functional analysis of human MutSalpha and MutSbeta complexes in yeastQ34693488
Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE reviewQ34990750
Mitotic crossovers between diverged sequences are regulated by mismatch repair proteins in Saccaromyces cerevisiaeQ36557503
Saccharomyces cerevisiae pms2 mutations are alleles of MLH1, and pms2-2 corresponds to a hereditary nonpolyposis colorectal carcinoma-causing missense mutationQ36560284
Functional domains of the Saccharomyces cerevisiae Mlh1p and Pms1p DNA mismatch repair proteins and their relevance to human hereditary nonpolyposis colorectal cancer-associated mutationsQ36570003
Dual requirement in yeast DNA mismatch repair for MLH1 and PMS1, two homologs of the bacterial mutL geneQ36643609
Mutator phenotype may be required for multistage carcinogenesisQ37732904
Mlh1 is unique among mismatch repair proteins in its ability to promote crossing-over during meiosisQ38344945
Dominant negative mutator mutations in the mutL gene of Escherichia coliQ39716760
Mammalian p53 can function as a transcription factor in yeastQ40421511
Mismatch repair, genetic stability, and cancerQ40556409
Reporter gene regulation in Saccharomyces cerevisiae by the human p53 tumor suppressor proteinQ40689935
Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repairQ40744193
Deficiency in Msh2 affects the efficiency and local sequence specificity of immunoglobulin class-switch recombination: parallels with somatic hypermutation.Q42676262
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic StatesQ43075069
Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.Q46001047
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiaeQ47713981
Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiaeQ47962525
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancerQ48084125
Defects in mismatch repair promote telomerase-independent proliferationQ48361396
Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.Q50627228
Function of hybrid human-yeast cyclin-dependent kinases in Saccharomyces cerevisiae.Q52532719
Mutator phenotypes of common polymorphisms and missense mutations in MSH2.Q54360036
Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal CancerQ57591274
Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer familiesQ58862127
Screening patients for heterozygous p53 mutations using a functional assay in yeastQ72635302
Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniquesQ73555188
A human compound heterozygote for two MLH1 missense mutationsQ73777232
P433issue18
P407language of work or nameEnglishQ1860
P921main subjectDNA mismatch repairQ2984243
P304page(s)5321-5338
P577publication date2004-10-08
P1433published inNucleic Acids ResearchQ135122
P1476titleHuman MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain
P478volume32

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cites work (P2860)
Q34584251A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient.
Q47449157Comprehensive functional assessment of MLH1 variants of unknown significance
Q45718448Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
Q39581441Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays
Q36670109Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis
Q35869772Functional analyses of human DNA repair proteins important for aging and genomic stability using yeast genetics
Q36190208Interaction between polymorphisms of DNA repair genes significantly modulated bladder cancer risk
Q26774627Mouse models for the discovery of colorectal cancer driver genes
Q33817381MutLα heterodimers modify the molecular phenotype of Friedreich ataxia
Q36296744Role of mismatch repair proteins in the processing of cisplatin interstrand cross-links
Q34167290Single nucleotide polymorphisms of DNA mismatch repair genes MSH2 and MLH1 confer susceptibility to esophageal cancer
Q57177032Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

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