Mutations in the genome are responsible for several fatal genetic disorders. The default DNA repair mechanism restores the malfunction of the gene caused by mutation to maintain functional regularity and sequential integrity of the cell. Here, we have elucidated the NMR structure and the dynamics of GC mismatched DNA (PDB code: 2MJX) and found that the mismatched DNA still retains the typical B-type helical form, but in the process introduces backbone distortion resulting from frame-shifted base pairs.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1002/cmdc.201402238 | DOI Listing |
Biosensors (Basel)
December 2024
Department of Biomedical-Chemical Engineering, The Catholic University of Korea, Bucheon 14662, Republic of Korea.
In the biosensor field, the accurate detection of contagious disease has become one of the most important research topics in the post-pandemic period. However, conventional contagious viral biosensors normally require chemical modifications to introduce the probe molecules to nucleic acids such as a redox indicator, fluorescent dye, or quencher for biosensing. To avoid this complex chemical modification, in this research, mismatched DNA with an intercalated metal ion complex (MIMIC) is employed as the probe sequence.
View Article and Find Full Text PDFDermatopathology (Basel)
December 2024
Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX 77030, USA.
Malignant proliferating trichilemmal tumors (MPTTs), arising from the external root sheath of hair follicles, are exceptionally rare, with limited documentation of their genetic alterations. We present a case of a 64-year-old African American woman who initially presented with a gradually enlarging nodule on her posterior scalp. An initial biopsy at an outside hospital suggested metastatic adenocarcinoma or squamous cell carcinoma (SCC) of an uncertain origin.
View Article and Find Full Text PDFTumori
December 2024
Hereditary Digestive Tract Tumors Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Background: Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.
View Article and Find Full Text PDFGut
December 2024
Biotech Research and Innovation Center (BRIC), Department of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Background And Objective: Ampullary carcinoma (AMPAC) taxonomy is based on morphology and immunohistochemistry. This classification lacks prognostic reliability and unique genetic associations. We applied an approach of integrative genomics characterising patients with AMPAC exploring molecular subtypes that may guide personalised treatments.
View Article and Find Full Text PDFPathol Res Pract
December 2024
Department of Medicine - DIMED, University of Padova, Padova, Italy; Department of Pathology, Azienda ULSS2 Marca Trevigiana, Treviso, Italy. Electronic address:
Background: RAS/BRAF mutations, mismatch DNA repair complex deficiency (MMRd)/microsatellite instability (MSI), and CpG methylator phenotype (CIMP) are key molecular actors in colorectal carcinogenesis. To date, conflicting evidence about the correlations between these molecular features has been reported.
Materials And Methods: A retrospectively selected cohort of 123 CRCs was divided into 3 groups based on the molecular characteristics: MMR proficient (MMRp)/BRAF p.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!