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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 31 Mar 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, HAD, PMS2, 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
Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.
Rodriguez-Quilichini et al., San Juan, United States. In Fam Cancer, 18 Apr 2015
Our results show that the mutation spectrum of Caribbean Hispanic LS patients was composed mostly of MSH2 (66.7 %) mutations, followed by MLH1 (25.0 %).
Abrupt Loss of MLH1 and PMS2 Expression in Endometrial Carcinoma: Molecular and Morphologic Analysis of 6 Cases.
Roma et al., Cleveland, United States. In Am J Surg Pathol, 16 Apr 2015
In these 6 cases, there was an abrupt loss of MLH1 and PMS2 expression in a portion of the tumor.
DNA methylation analysis of cancer-related genes in oral epithelial cells of healthy smokers.
De Oliveira et al., João Pessoa, Brazil. In Arch Oral Biol, 03 Apr 2015
AIM: The aim of this study was to investigate the smoking habit influence on DNA methylation status in the promoters of the cancer related-genes MLH1, hTERT and TP53 in oral epithelial cells of healthy subjects.
Polymorphism of DNA mismatch repair genes in endometrial cancer.
Blasiak et al., Łódź, Poland. In Exp Oncol, 31 Mar 2015
UNLABELLED: Endometrial cancer (EC) is the second most common malignancy associated with hereditary non-polyposis colorectal cancer (HNPCC) family.
Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum.
Park et al., Seoul, South Korea. In Obstet Gynecol Sci, 31 Mar 2015
Among 9 cases with immunohistochemical staining for MLH1 and MSH2, 6 were positive for the loss of mismatch repair protein.
Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis.
Win et al., Melbourne, Australia. In J Clin Oncol, 01 Mar 2015
RESULTS: We pooled estimates from analyses of 1,114 Lynch syndrome families (508 with MLH1 mutations and 606 with MSH2 mutations).
DNA mismatch repair enzymes: Genetic defects and autoimmunity.
Akiyama et al., Nagoya, Japan. In Clin Chim Acta, 22 Feb 2015
The human MutS enzymes consist of MSH2, MSH3 and MSH6, and the human MutL enzymes include MLH1, MLH3, PMS1 and PMS2.
Genomic assays for Epstein-Barr virus-positive gastric adenocarcinoma.
Gulley, Chapel Hill, United States. In Exp Mol Med, Dec 2014
The EBV-positive class has even more marked CpG methylation than does the MSI class, and viral cancers have a unique pattern of methylation linked to the downregulation of CDKN2A (p16) but not MLH1.
Muir-Torre syndrome.
Brown et al., Jackson, United States. In Arch Pathol Lab Med, Dec 2014
Because a subset of patients with phenotypic MTS will have germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, MTS is considered a phenotypic subtype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), in which inherited defects in DNA mismatch repair genes result in microsatellite instability.
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.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
InSiGHT et al., In Nat Genet, Feb 2014
The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2.
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
Spurdle et al., Adelaide, Australia. In J Clin Oncol, Feb 2014
Tumor MLH1 methylation was detected in 99 (89%) of 111 cases demonstrating MLH1/PMS2 IHC loss; all were germline MLH1 mutation negative.
Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).
Win et al., Melbourne, Australia. In Appl Clin Genet, 2013
However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter.
[Hereditary prostate cancer].
Haus et al., Laizhou, China. In Postepy Hig Med Dosw (online), 2013
According to literature data HPC is associated with genes involved in androgen metabolism, including androgen receptor gene--AR, SRD5A2 and CYP17, genes involved in the DNA damage repair, including BRCA1, BRCA2, NBS1 and MLH1 or some developmental genes as HOXB13.
Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.
Eng et al., Cleveland, United States. In J Clin Oncol, 2013
In approaches 2 and 3, patients were presumed to have sporadic CRC if the tumor lacked MLH1 expression and was also BRAF mutated or if the patient was diagnosed at age greater than 72 years and had no cancer family history.
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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