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Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
Publication Type: Academic Journal
Source(s): Journal of clinical laboratory analysis [J Clin Lab Anal] 2023 Jan; Vol. 37 (1), pp. e24827. Date of Electronic Publication: 2022 Dec 29.
Abstract: Objectives: Numerous diseases and disorders are associated with mitochondrial DNA (mtDNA) mutations, among which m.1555A > G and m.1494C > T mutations in the 12 S ribosomal RNA gene contribute to aminoglycoside-induced and nonsyndromic hearing loss wor...
Performance evaluation of the Biocartis Idylla EGFR Mutation Test using pre-extracted DNA from a cohort of highly characterised mutation positive samples.
Publication Type: Academic Journal
Source(s): Journal of clinical pathology [J Clin Pathol] 2022 Apr; Vol. 75 (4), pp. 241-249. Date of Electronic Publication: 2021 Jan 29.
Abstract: Aims: Targeted therapies for non-small cell lung carcinoma (NSCLC) rely on the detection of specific genomic lesions, such as mutations within the epidermal growth factor receptor ( EGFR ) gene. The Biocartis Idylla platform and single-use EGFR mutatio...
Technical in-depth comparison of two massive parallel DNA-sequencing methods for formalin-fixed paraffin-embedded tissue from victims of sudden cardiac death.
Publication Type: Academic Journal
Source(s): Forensic science international. Genetics [Forensic Sci Int Genet] 2021 Jul; Vol. 53, pp. 102522. Date of Electronic Publication: 2021 Apr 26.
Abstract: Sudden cardiac death (SCD) is a tragic and traumatic event. SCD is often associated with hereditary genetic disease and in such cases, sequencing of stored formalin fixed paraffin embedded (FFPE) tissue is often crucial in trying to find a causal genet...
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
Publication Type: Academic Journal
Source(s): International journal of molecular sciences [Int J Mol Sci] 2021 Sep 08; Vol. 22 (18). Date of Electronic Publication: 2021 Sep 08.
Abstract: Factor V is an essential clotting factor that plays a key role in the blood coagulation cascade on account of its procoagulant and anticoagulant activity. Eighty percent of circulating factor V is produced in the liver and the remaining 20% originates ...
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
Publication Type: Academic Journal
Source(s): European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Sep; Vol. 30 (9), pp. 1051-1059. Date of Electronic Publication: 2022 Jun 09.
Abstract: Over 20% of the DNA mismatch repair (MMR) germline variants in suspected Lynch syndrome patients are classified as variants of uncertain significance (VUS). Well-established functional assays are pivotal for assessing the biological impact of these var...
Clinical validation and implementation of droplet digital PCR for the detection of BRAF mutations from cell-free DNA.
Publication Type: Academic Journal
Source(s): Pathology [Pathology] 2022 Oct; Vol. 54 (6), pp. 772-778. Date of Electronic Publication: 2022 May 23.
Abstract: Droplet digital PCR (ddPCR) has been demonstrated in many research studies to be a sensitive method in the analysis of circulating tumour DNA (ctDNA) for identifying mutations and tracking disease. The transition of ddPCR into the diagnostic setting re...
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus.
Publication Type: Academic Journal
Source(s): Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 2279-2294. Date of Electronic Publication: 2022 Nov 09.
Abstract: Retinitis pigmentosa (RP) is a monogenic disease characterized by irreversible degeneration of the retina. PRPF31, the second most common causative gene of autosomal dominant RP, frequently harbors copy number variations (CNVs), but the underlying mech...
A quantification method of somatic mutations in normal tissues and their accumulation in pediatric patients with chemotherapy.
Publication Type: Academic Journal
Source(s): Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Aug 02; Vol. 119 (31), pp. e2123241119. Date of Electronic Publication: 2022 Jul 27.
Abstract: Somatic mutations are accumulated in normal human tissues with aging and exposure to carcinogens. If we can accurately count any passenger mutations in any single DNA molecule, since their quantity is much larger than driver mutations, we can sensitive...
Dried blood spot sampling for hepatitis B virus quantification, sequencing and mutation detection.
Publication Type: Academic Journal
Source(s): Scientific reports [Sci Rep] 2022 Jan 31; Vol. 12 (1), pp. 1651. Date of Electronic Publication: 2022 Jan 31.
Abstract: Hepatitis B virus (HBV) diagnosis is performed on serum samples, but the access to this diagnosis is difficult in low-income regions. The use of dried blood spot (DBS) samples does not require special structure for collection, storage or transport. Thi...
Comparison of High-Resolution Melting (HRM) Analysis with Direct Sequencing for the Detection of DNMT3A Mutations in AML Patients.
Publication Type: Academic Journal
Source(s): Asian Pacific journal of cancer prevention : APJCP [Asian Pac J Cancer Prev] 2022 Jul 01; Vol. 23 (7), pp. 2185-2190. Date of Electronic Publication: 2022 Jul 01.
Abstract: Objective: Acute myeloid leukemia (AML) is caused by abnormal gene expression following mutations. Many of the mutations in AML lead to gene instability and poor response to treatment. Among these mutations, DNMT3A mutation is exceedingly important due...