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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 27 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
Synchronous glioblastoma and medulloblastoma in a child with mismatch repair mutation.
New
Bouffet et al., Al Jubayhah, Jordan. In Childs Nerv Syst, 21 Sep 2015
Both tumor samples had positive p53 stain and loss of PMS2 and MLH1 stains.
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
New
Stoffel et al., Ann Arbor, United States. In World J Gastroenterol, 21 Sep 2015
UNASSIGNED: 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).
Women with double primary cancers of the colorectum and endometrium: do they have Lynch syndrome?
New
Kim et al., Seoul, South Korea. In Eur J Obstet Gynecol Reprod Biol, 19 Sep 2015
If immunohistochemical (IHC) loss of expression of mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) or high microsatellite instability (MSI) was demonstrated in molecular testing, the case was considered 'suspected Lynch syndrome'.
MCM9 Is Required for Mammalian DNA Mismatch Repair.
New
Méchali et al., Montpellier, France. In Mol Cell, 19 Sep 2015
Here, we show that mammalian MCM9, a protein involved in replication and homologous recombination, forms a complex with MMR initiation proteins (MSH2, MSH3, MLH1, PMS1, and the clamp loader RFC) and is essential for MMR.
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.
New
Impact
Mathers et al., Tehrān, Iran. In J Clin Oncol, 17 Sep 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).
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.
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.
Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
Review
New
International BMMRD Consortium et al., Toronto, Canada. In Eur J Cancer, May 2015
Lynch syndrome, the most common inherited colorectal cancer syndrome in adults, is an autosomal dominant condition caused by heterozygous germ-line mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2.
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).
Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.
New
Scarpa et al., Verona, Italy. In Hered Cancer Clin Pract, Dec 2014
METHODS: A series of 16 probands for either familial adenomatous polyposis (FAP; 8 cases) or hereditary nonpolyposis colorectal cancer (HNPCC; 8 cases) were investigated for intragenic mutations in five CRC familial syndromes-associated genes (APC, MUTYH, MLH1, MSH2, MSH6) applying both a custom multigene Ion AmpliSeq NGS panel and conventional Sanger sequencing.
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.
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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