Results 91 to 100 of about 46,287 (264)

N‐terminus of hMLH1 confers interaction of hMutLα and hMutLβ with hMutSα [PDF]

open access: yes, 2006
Mismatch repair is a highly conserved system that ensures replication fidelity by repairing mispairs after DNA synthesis. In humans, the two protein heterodimers hMutSα (hMSH2‐hMSH6) and hMutLα (hMLH1‐hPMS2) constitute the centre of the repair reaction ...
Brieger, Angela   +4 more
core  

Correlation of MLH1 and MGMT expression and promoter methylation with genomic instability in patients with thyroid carcinoma [PDF]

open access: yes, 2013
Background: Gene silencing of the repair genes MLH1 and MGMT was shown to be a mechanism underlying the development of microsatellite instability (MSI), a phenotype frequently associated with various human malignancies.
Bastos, Andre Uchimura   +3 more
core   +2 more sources

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
RNA‐based fusion panels using targeted next‐generation sequencing of formalin‐fixed paraffin‐embedded (FFPE) tumour tissue specimens have been used for a few years from patients with various tumour types to detect rearrangements/fusions. Using the bioinformatic approaches the data obtained from RNA sequencing (RNAseq) can also be used for small ...
Pranav Dorwal   +14 more
wiley   +1 more source

Cloning of Rat MLH1 and Expression Analysis of MSH2, MSH3, MSH6, and MLH1 during Spermatogenesis

open access: yesGenomics, 1999
The mismatch repair system has been highly conserved in various species. In eukaryotic cells, the Mut S and Mut L homologues play crucial roles in both DNA mismatch repair and meiotic recombination. A full-length rat cDNA clone for rat MLH1 has been constructed using the RT-PCR method.
Vani, Geeta R, Varghese, CM, Rao, MRS
openaire   +2 more sources

UBR2 of the N-end rule pathway is required for chromosome stability via histone ubiquitylation in spermatocytes and somatic cells [PDF]

open access: yes, 2012
The N-end rule pathway is a proteolytic system in which its recognition components (N-recognins) recognize destabilizing N-terminal residues of short-lived proteins as an essential element of specific degrons, called N-degrons.
An, JY   +12 more
core   +1 more source

Compliance of Dermatology Screening Visits Among Patients With Skin Cancer‐Predisposing Pathogenic Variants

open access: yesJEADV Clinical Practice, EarlyView.
Patients with genetic variants that increase skin cancer risk are recommended to undergo regular dermatology screenings per National Comprehensive Cancer Network guidelines, but compliance is uncertain. In a retrospective study of 230 patients with such variants, compliance with screening visits significantly improved after visiting a Hereditary Cancer
Stephen J. Gadomski   +4 more
wiley   +1 more source

Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation [PDF]

open access: yesClinical Epigenetics, 2019
AbstractConstitutionalMLH1methylation (epimutation) is a rare cause of Lynch syndrome. Low-level methylation (≤ 10%) has occasionally been described. This study aimed to identify low-level constitutionalMLH1epimutations and determine its causal role in patients withMLH1-hypermethylated colorectal cancer.Eighteen patients withMLH1-hypermethylated ...
Estela Dámaso   +21 more
openaire   +7 more sources

The conserved XPF:ERCC1-like Zip2:Spo16 complex controls meiotic crossover formation through structure-specific DNA binding. [PDF]

open access: yes, 2019
In eukaryotic meiosis, generation of haploid gametes depends on the formation of inter-homolog crossovers, which enable the pairing, physical linkage, and eventual segregation of homologs in the meiosis I division.
Arora, Kanika, Corbett, Kevin D
core  

Estradiol regulates miR-135b and mismatch repair gene expressions via estrogen receptor-β in colorectal cells. [PDF]

open access: yes, 2012
Estrogen has anti-colorectal cancer effects which are thought to be mediated by mismatch repair gene (MMR) activity. Estrogen receptor (ER) expression is associated with microRNA (miRNA) expression in ER-positive tumors.
Fu, Lei   +6 more
core   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri   +7 more
wiley   +1 more source

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