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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 11 Nov 2015.

MutL homolog 1, colon cancer, nonpolyposis type 2

This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009] (from NCBI)
Top mentioned proteins: MSH2, MSH6, PMS2, HAD, AGE
Papers using MLH1 antibodies
Long-term stability of large insert genomic DNA episomal shuttle vectors in human cells.
Navarro Alfons, In PLoS ONE, 1998
... For MLH1 and C1S2 methylation analysis, cells were treated with 34, 67 or 134 nM gemcitabine (Eli Lilly) or 43 nM etoposide (Sigma Aldrich) for 18 h or with ...
Chromosomal influence on meiotic spindle assembly: abnormal meiosis I in female Mlh1 mutant mice
Schulz Rüdiger W. et al., In Cell and Tissue Research, 1998
... For MLH1 detection, a mouse monoclonal anti-human MLH1 antibody (BD Biosciences Pharmingen, Franklin Lake, N.J.) ...
A drying-down technique for the spreading of mammalian meiocytes from the male and female germline
Hawley R Scott, In PLoS Genetics, 1996
... (γ-H2AX) (Upstate, 05–636) at a 1:3,000 dilution; rabbit anti-RAD51 (Calbiochem, PC130) at a 1:50 dilution; mouse monoclonal anti-MLH1 (Pharmingen, 551091 ) at a 1:10 dilution; and a human anti-centromere serum that recognizes centromeric proteins (Antibodies Incorporated, 15–235) at a 1:100 dilution ...
Papers on MLH1
Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.
Mutch et al., Houston, United States. In J Clin Oncol, 09 Dec 2015
We sought to determine whether tumor microsatellite instability (MSI) typing along with immunohistochemistry (IHC) and MLH1 methylation analysis can help identify women with LS.
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Levi et al., Haifa, Israel. In Pediatr Blood Cancer, 06 Dec 2015
BACKGROUND: Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome conferring a high risk of colorectal, endometrial, and other cancers in adulthood.
CDX2 downregulation is associated with poor differentiation and MMR deficiency in colon cancer.
Troelsen et al., Roskilde, Denmark. In Exp Mol Pathol, 06 Dec 2015
FFPE sections were stained for MLH1, MSH2, MSH6, PMS2, and CDX2.
SWI/SNF Complex-deficient Undifferentiated/Rhabdoid Carcinomas of the Gastrointestinal Tract: A Series of 13 Cases Highlighting Mutually Exclusive Loss of SMARCA4 and SMARCA2 and Frequent Co-inactivation of SMARCB1 and SMARCA2.
Hartmann et al., Plzeň, Czech Republic. In Am J Surg Pathol, 05 Dec 2015
We herein analyzed 13 cases for expression of 4 SWI/SNF complex subunits SMARCB1, SMARCA2, SMARCA4, and ARID1A and the mismatch-repair proteins MLH1, MSH2, MSH6, and PMS2 by immunohistochemistry. Patients included 12 men and 1 woman aged 32 to 81 years (median, 57 y).
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.
Mathers et al., Tehrān, Iran. In J Clin Oncol, 01 Dec 2015
In subgroup analysis, obesity was associated with 3.72× (95% CI, 1.41 to 9.81) greater CRC risk in patients with LS with MLH1 mutation, but no excess risk was observed in those with MSH2 or MSH6 mutation (P = .5).
Mismatch repair protein deficient endometrioid adenocarcinomas, metastasizing to adrenal gland and lymph nodes: Unusual cases with diagnostic implications.
Rekhi, Mumbai, India. In Indian J Pathol Microbiol, 31 Oct 2015
By immunohistochemistry, tumor cells were positive for cytokeratin 7, epithelial membrane antigen, PAX8, MLH1 and PMS2 while negative for estrogen receptor (ER), progesterone receptor (PR), MSH2 and MSH6.
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Stoffel et al., Ann Arbor, United States. In World J Gastroenterol, Sep 2015
Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC).
Clinicopathologic and molecular characteristics of gastric cancer showing gastric and intestinal mucin phenotype.
Yasui et al., Hiroshima, Japan. In Cancer Sci, Aug 2015
TP53 mutation, allelic deletion of the APC gene and nuclear staining of β-catenin are frequently detected in the intestinal phenotype of GC, whereas CDH1 gene mutation, microsatellite instability and DNA hypermethylation of MLH1 are common events in the gastric phenotype of GC.
Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease.
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium, In Cell, Aug 2015
Association at MLH1 and pathway analysis of the full GWA results support a role for DNA handling and repair mechanisms in altering the course of HD.
Lynch Syndrome in the 21st Century: Clinical Perspectives.
Lynch et al., Omaha, United States. In Qjm, Aug 2015
At genetic level, it is caused by a defective mismatch repair (MMR) system due to presence of germline defects in at least one of the MMR genes- MLH1, MSH2, MSH6, PMS2 or EPCAM.
Advances in the study of Lynch syndrome in China.
Sheng et al., Beijing, China. In World J Gastroenterol, Jul 2015
In addition to frequently altered MMR genes, such as MLH1, MSH2, MSH6, and MLH3, other MMR-associated genes, such as those encoding human exonuclease 1, transforming growth factor β receptor 2, and alanine aminopeptidase, metastasis-associated protein 2, adenomatosis polyposis coli down-regulated 1, and hepatic and glial cell adhesion molecule have also been implicated in Chinese Lynch syndrome.
Molecular and histologic considerations in the assessment of serrated polyps.
Sepulveda et al., New York City, United States. In Arch Pathol Lab Med, Jun 2015
CpG methylation of MLH1 often leads to reduced or lost expression in dysplastic foci and carcinomas arising in sessile serrated adenomas/polyps.
Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis.
Win et al., Melbourne, Australia. In J Clin Oncol, Mar 2015
RESULTS: We pooled estimates from analyses of 1,114 Lynch syndrome families (508 with MLH1 mutations and 606 with MSH2 mutations).
No Evidence that Infection Alters Global Recombination Rate in House Mice.
Singh et al., Raleigh, United States. In Plos One, Dec 2014
We applied MLH1 mapping to assay global crossover rates in male mice infected with the pathogenic bacterium Borrelia burgdorferi, the causative agent of Lyme Disease, and uninfected control animals.
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
Ford et al., San Francisco, United States. In J Clin Oncol, Aug 2014
Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations.
The unstructured linker arms of Mlh1-Pms1 are important for interactions with DNA during mismatch repair.
Alani et al., Ithaca, United States. In J Mol Biol, 2012
Cleavage of the Mlh1 linker arm in vitro resulted in a defect in Mlh1-Pms1 DNA binding activity, and in vivo proteolytic cleavage resulted in a complete defect in DNA mismatch repair .
Evaluation of microsatellite instability, MLH1 expression and hMLH1 promoter hypermethylation in colorectal carcinomas among Tunisians patients.
Bouraoui et al., Tunis, Tunisia. In Tunis Med, 2012
Our study showed that MSI-H phenotype was mucinous, right-side and exhibit stade III of TNM. The relative correlation of MLH1 expression and promotor hypermethylation of hMLH1 for the MSI status is similar to that reported for several study
Case-case study of factors associated to hMLH1, hMSH2, and hMSH6 protein expression among endometrial cancer patients of the University District Hospital of San Juan, Puerto Rico.
Cruz-Correa et al., San Juan, Puerto Rico. In Int J Gynecol Cancer, 2012
Loss of hMLH1 is associated with endometrial cancer.
Novel germline MLH1 and MSH2 mutations in Latvian Lynch syndrome families.
Miklaševičs et al., Rīga, Latvia. In Exp Oncol, 2011
The mutations in the MLH1 and MSH2 genes in Latvian Lynch syndrome high-risk families are highly heterogeneous.
Association between p16, hMLH1 and E-cadherin promoter hypermethylation and intake of local hot salted tea and sun-dried foods in Kashmiris with gastric tumors.
Aejaz et al., India. In Asian Pac J Cancer Prev, 2011
MLH1 promoter hypermethylation and intake of local hot salted tea and sun-dried foods are associated with gastric tumors.
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