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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 02 Aug 2015.

MutL homolog 1, colon cancer, nonpolyposis type 2

MLH1, hMLH1
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.
Supplier
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
Supplier
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
Supplier
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
A case of early onset rectal cancer of Lynch syndrome with a novel deleterious PMS2 mutation.
New
Arai et al., Tokyo, Japan. In Jpn J Clin Oncol, 01 Sep 2015
However, the frequency of PMS2 mutation is rare compared with that of the other causative genes; MSH2, MLH1 and MSH6.
Mismatch repair status may predict response to adjuvant chemotherapy in resectable pancreatic ductal adenocarcinoma.
New
Schaeffer et al., Vancouver, Canada. In Mod Pathol, 31 Aug 2015
A tissue microarray with associated clinical outcome, comprising 254 resected pancreatic ductal adenocarcinoma patients was stained for four mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2).
Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease.
New
Impact
Genetic Modifiers of Huntington's Disease GeM-HD Consortium et al., In Cell, 30 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.
New
Lynch et al., Omaha, United States. In Qjm, 29 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.
Identification of methylation markers for the prediction of nodal metastasis in oral & oropharyngeal squamous cell carcinoma.
New
Schuuring et al., Groningen, Netherlands. In Epigenetics, 25 Aug 2015
Five out of 28 methylation markers (OCLN, CDKN2A, MGMT, MLH1, and DAPK1) were frequently differentially methylated in OOSCC.
A Genetic Incompatibility Accelerates Adaptation in Yeast.
New
Alani et al., Toronto, Canada. In Plos Genet, 31 Jul 2015
UNASSIGNED: During mismatch repair (MMR) MSH proteins bind to mismatches that form as the result of DNA replication errors and recruit MLH factors such as Mlh1-Pms1 to initiate excision and repair steps.
Advances in the study of Lynch syndrome in China.
Review
New
Sheng et al., Beijing, China. In World J Gastroenterol, 14 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.
PMS2 monoallelic mutation carriers: the known unknown.
Review
New
Lindor et al., Rochester, United States. In Genet Med, May 2015
UNASSIGNED: Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome.
DNA mismatch repair enzymes: genetic defects and autoimmunity.
Review
New
Akiyama et al., Nagoya, Japan. In Clin Chim Acta, Apr 2015
The human MutS enzymes consist of MSH2, MSH3 and MSH6, and the human MutL enzymes include MLH1, MLH3, PMS1 and PMS2.
Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis.
New
Impact
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).
Genomic assays for Epstein-Barr virus-positive gastric adenocarcinoma.
Review
New
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.
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
New
Impact
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.
New
Impact
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.
New
Impact
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.
The unstructured linker arms of Mlh1-Pms1 are important for interactions with DNA during mismatch repair.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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.
Review
Jonas et al., Rockville, United States. In Unknown Journal, 0001
We evaluated the following tests: microsatellite instability assessment by polymerase chain reaction (PCR) for colorectal cancer (CRC), MLH1 promoter methylation for CRC, KRAS mutation testing for CRC, BRAF mutation testing for CRC, Oncotype DX Colon mRNA expression for CRC, Oncotype DX Breast mRNA expression for breast cancer, MammaPrint mRNA expression for breast cancer, ALK cytogenetics for lung cancer, EGFR mutation testing for lung cancer, KRAS mutation testing for lung cancer, and UroVysion cytogenetics for urinary bladder cancer.
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