MLH1 gene

Katabuchi H et al. (1995) Mutations in DNA mismatch repair genes are not responsible for microsatellite instability in most sporadic endometrial carcinomas.

Green RC et al. (1994) Hereditary nonpolyposis colon cancer: analysis of linkage to 2p15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families.

Bronner CE et al. (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.

Papadopoulos N et al. (1994) Mutation of a mutL homolog in hereditary colon cancer.

Lindblom A et al. (1993) Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer.

Li GM et al. (1995) Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs.

Han HJ et al. (1995) Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)

Paraf F et al. (1995) Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome.

Liu B et al. (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.

Hamilton SR et al. (1995) The molecular basis of Turcot's syndrome.

Maliaka YK et al. (1996) CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.

Nyström-Lahti M et al. (1995) Founding mutations and Alu-mediated recombination in hereditary colon cancer.

Lynch HT et al. (1985) Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome.

Vasen HF et al. (1991) The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC).

Clyne M et al. (2009) The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.

Tournier I et al. (2008) A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Avdievich E et al. (2008) Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.

Morak M et al. (2008) Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.

Poley JW et al. (2007) Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.

Jäger AC et al. (1997) Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression.

Wang Q et al. (1999) Neurofibromatosis and early onset of cancers in hMLH1-deficient children.

Ricciardone MD et al. (1999) Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Yuan ZQ et al. (1998) I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer.

Ban C et al. (1998) Crystal structure and ATPase activity of MutL: implications for DNA repair and mutagenesis.

Shimodaira H et al. (1998) Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.

Veigl ML et al. (1998) Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers.

Herman JG et al. (1998) Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma.

Genuardi M et al. (1998) Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.

Wang Y et al. (1997) Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue.

Simpkins SB et al. (1999) MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers.

Kane MF et al. (1997) Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines.

Moisio AL et al. (1996) Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.

Sasaki S et al. (1996) Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers.

Bapat B et al. (1996) The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.

Baker SM et al. (1996) Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over.

Miyaki M et al. (1995) Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients.

Liu B et al. (1996) Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.

Wijnen J et al. (1996) Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

Stella A et al. (2001) A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.

Trimbath JD et al. (2001) Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

Gorlov IP et al. (2003) Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers.

Wei SC et al. (2003) Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer.

Green RC et al. (2003) Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred.

Froenicke L et al. (2002) Male mouse recombination maps for each autosome identified by chromosome painting.

Viel A et al. (2002) Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.

Gazzoli I et al. (2002) A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor.

Bisgaard ML et al. (2002) Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.

Trojan J et al. (2002) Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.

Hitchins MP et al. (2007) Inheritance of a cancer-associated MLH1 germ-line epimutation.

Ellison AR et al. (2001) Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.

Chan TL et al. (2001) A novel germline 1.8-kb deletion of hMLH1 mimicking alternative splicing: a founder mutation in the Chinese population.

Vilkki S et al. (2001) Extensive somatic microsatellite mutations in normal human tissue.

Huang SC et al. (2001) Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer.

Wheeler JM et al. (2000) The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers.

Wang Y et al. (2000) BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.

Liu T et al. (1999) Missense mutations in hMLH1 associated with colorectal cancer.

Wang Q et al. (2003) Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Suter CM et al. (2004) Germline epimutation of MLH1 in individuals with multiple cancers.

Gosden RG et al. (2007) Genetics and epigenetics--nature's pen-and-pencil set.

Kadyrov FA et al. (2006) Endonucleolytic function of MutLalpha in human mismatch repair.

Barnetson RA et al. (2006) Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

Kurzawski G et al. (2006) Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Pagenstecher C et al. (2006) Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

Guillon H et al. (2005) Crossover and noncrossover pathways in mouse meiosis.

Ostergaard JR et al. (2005) Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

Quehenberger F et al. (2005) Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment.

McVety S et al. (2006) Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

Rey JM et al. (2004) Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.

Alazzouzi H et al. (2005) Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.

Oliveira C et al. (2004) Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.

Bjornsson HT et al. (2004) An integrated epigenetic and genetic approach to common human disease.

Mangold E et al. (2004) A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

Lipkin SM et al. (2004) The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.

Raevaara TE et al. (2004) HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

Taylor CF et al. (2003) Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

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