Evaluation of a 42-Gene Next-Generation Sequencing Panel for Detection of Acute Myeloid Leukemia Mutations for Clinical Use
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Clinical Pathology"
DOI: 10.1093/ajcp/aqz121.024
Abstract: Identification of genetic alterations by molecular and cytogenetic testing has an important role in the classification, risk stratification, and management of acute myeloid leukemia (AML). We evaluated a next-generation sequencing (NGS) panel that assesses IDH2,… read more here.
Keywords: myeloid leukemia; mutations clinical; acute myeloid; panel ... See more keywords
Reversion Mutations with Clinical Use of PARP Inhibitors: Many Genes, Many Versions.
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DOI: 10.1158/2159-8290.cd-17-0734
Abstract: Reversion mutations associated with PARP inhibitor resistance have been identified in tumors with RAD51C, RAD51D, and PALB2 as well as BRCA1 and BRCA2 mutations. Multiple different reversion mutations can occur in a single patient, and… read more here.
Keywords: parp inhibitors; clinical use; use parp; related article ... See more keywords
Human Secretary Phospholipase A2 Mutations and Their Clinical Implications
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DOI: 10.2147/jir.s269557
Abstract: Abstract Phospholipases A2 (PLA2s) belong to a superfamily of enzymes responsible for hydrolysis of the sn-2 fatty acids of membrane phospholipids to release arachidonic acid. PLA2s are the rate limiting enzyme for the downstream synthesis… read more here.
Keywords: clinical implications; secretary phospholipase; mutations clinical; spla2 ... See more keywords
Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2023.1077120
Abstract: Background and Aims The genetic and clinical characteristics of patients with distal renal tubular acidosis (dRTA) caused by SLC4A1 mutations have not been systematically recorded before. Here, we summarized the SLC4A1 mutations and clinical characteristics… read more here.
Keywords: drta caused; inheritance; mutations clinical; caused slc4a1 ... See more keywords