Inactivating frameshift mutation of putative tumor suppressor genes PLA2R1 and SRPK1 in gastric and colorectal cancers.
Sign Up to like & getrecommendations! Published in 2017 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2016.11.005
Abstract: To the Editor: Phospholipase A2 receptor 1 (PLA2R1) encodes a transmembrane receptor that plays a role in clearance of phospholipase A2, thereby inhibiting the action of phospholipaseA2 (1). Activation of PLAR1 leads to cellular senescence,… read more here.
Keywords: pla2r1 srpk1; msi; frameshift mutations; cancer ... See more keywords
CALR frameshift mutations in MPN patient-derived iPSCs accelerate maturation of megakaryocytes.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell reports"
DOI: 10.1016/j.stemcr.2021.09.019
Abstract: Calreticulin (CALR) mutations are driver mutations in myeloproliferative neoplasms (MPNs), leading to activation of the thrombopoietin receptor and causing abnormal megakaryopoiesis. Here, we generated patient-derived CALRins5- or CALRdel52-positive induced pluripotent stem cells (iPSCs) to establish… read more here.
Keywords: derived ipscs; frameshift mutations; calr frameshift; mpn patient ... See more keywords
Bart’s Syndrome with Novel Frameshift Mutations in the COL7A1 Gene
Sign Up to like & getrecommendations! Published in 2019 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2018.1543370
Abstract: Abstract Introduction: Bart’s syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently. Case report: A full-term female neonate had well-demarcated absence of skin on… read more here.
Keywords: novel frameshift; bart syndrome; frameshift mutations; mutations col7a1 ... See more keywords
Species-Wide Phylogenomics of the Staphylococcus aureus Agr Operon Revealed Convergent Evolution of Frameshift Mutations
Sign Up to like & getrecommendations! Published in 2022 at "Microbiology Spectrum"
DOI: 10.1128/spectrum.01334-21
Abstract: Staphylococcus aureus is a globally pervasive pathogen that produces a plethora of toxic molecules that can harm host immune cells. Production of these toxins is mainly controlled by an active agr quorum-sensing system, which senses… read more here.
Keywords: staphylococcus aureus; agr; species wide; agr operon ... See more keywords
Somatic Mutation of NLRP Genes in Gastric and Colonic Cancers
Sign Up to like & getrecommendations! Published in 2021 at "Pathology and Oncology Research"
DOI: 10.3389/pore.2021.607385
Abstract: Nucleotide-binding and leucine-rich repeat protein (NLRP) genes are involved in inflammasome formation that plays a role in inflammation/host defense and cell death. Both cell death and inflammation are crucial for cancer development, but the roles… read more here.
Keywords: somatic mutation; nlrp genes; frameshift mutations; colonic cancers ... See more keywords
Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12050650
Abstract: Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. FOXC2 mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases FOXC2 mRNA stability. No studies have… read more here.
Keywords: lymphedema distichiasis; frameshift mutations; expression; foxc2 ... See more keywords
Exploring the Potential of Symmetric Exon Deletion to Treat Non-Ischemic Dilated Cardiomyopathy by Removing Frameshift Mutations in TTN
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13061093
Abstract: Non-ischemic dilated cardiomyopathy (DCM) is one of the most frequent pathologies requiring cardiac transplants. Even though the etiology of this disease is complex, frameshift mutations in the giant sarcomeric protein Titin could explain up to… read more here.
Keywords: deletion; non ischemic; ischemic dilated; frameshift mutations ... See more keywords
On the efficiency of the genetic code after frameshift mutations
Sign Up to like & getrecommendations! Published in 2018 at "PeerJ"
DOI: 10.7717/peerj.4825
Abstract: Statistical and biochemical studies of the standard genetic code (SGC) have found evidence that the impact of mistranslations is minimized in a way that erroneous codes are either synonymous or code for an amino acid… read more here.
Keywords: amino acid; code; polarity; frameshift mutations ... See more keywords