Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies

scientific article published in June 2011

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S10689-011-9431-4
P698PubMed publication ID21404117

P50authorPeter ProppingQ1634165
Hans Konrad SchackertQ40929188
Elke Holinski-FederQ43376219
Gabriela MösleinQ43376252
Brigitte Royer-PokoraQ43376295
Christoph EngelQ56261483
Magnus von Knebel DoeberitzQ87739754
Monika MorakQ88115609
Verena Steinke-LangeQ89459811
Nils RahnerQ114515679
Timm GoeckeQ117235137
Beate BetzQ117255561
Christian P PoxQ117255562
P2093author name stringJohannes H Hegemann
Karin Hardt
Kati Servan
Haniyeh Yazdanparast
Sven Boris Heick
German HNPCC consortium
Robin Küppers
P2860cites workThe interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2Q24596494
A novel genetic system to detect protein-protein interactionsQ27860915
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancerQ28137782
DNA mismatch repairQ28256190
The distribution of the numbers of mutants in bacterial populationsQ29620123
A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.Q31146866
Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations.Q33957827
DNA mismatch repair and genetic instabilityQ34090778
The selection for mismatch repair defects in hereditary nonpolyposis colorectal cancer: revising the mutator hypothesis.Q34405031
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.Q34547820
Functional analysis of human MutSalpha and MutSbeta complexes in yeastQ34693488
The UvrD helicase and its modulation by the mismatch repair protein MutL.Q35100583
Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repairQ35537125
Mutations in DNA mismatch repair genes: implications for DNA damage signaling and drug sensitivity (review).Q35686587
Genetic predisposition to colorectal cancerQ35930688
Mechanisms in eukaryotic mismatch repairQ36564560
Hypermutability of homonucleotide runs in mismatch repair and DNA polymerase proofreading yeast mutants.Q36568353
Functional domains of the Saccharomyces cerevisiae Mlh1p and Pms1p DNA mismatch repair proteins and their relevance to human hereditary nonpolyposis colorectal cancer-associated mutationsQ36570003
Structure of the MutL C-terminal domain: a model of intact MutL and its roles in mismatch repairQ37592729
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repairQ39695410
Stabilized, long-term expression of heterodimeric proteins from tricistronic mRNA.Q40856640
The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch repair proteinQ40963280
MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeastQ42427955
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severityQ42698843
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression systemQ43847787
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).Q44498341
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiaeQ47713981
Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1Q59273262
Mediating mismatch repairQ73311211
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?Q77299844
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancerQ77495184
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutationsQ79518237
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assaysQ80352228
P433issue2
P921main subjectLynch syndromeQ783644
P304page(s)273-284
P577publication date2011-06-01
P1433published inFamilial CancerQ15761917
P1476titleMissense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies
P478volume10

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cites work (P2860)
Q39389539Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
Q34163755C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins
Q45718448Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
Q88009101Evaluation of MLH1 variants of unclear significance
Q92093286Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes
Q38932044Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis
Q47177393Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
Q38029584Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future
Q30413890Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families
Q34533276The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome

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