FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385655481> ?p ?o ?g. }

• W4385655481 endingPage "e702455d" @default.
• W4385655481 startingPage "e702455d" @default.
• W4385655481 abstract "Topic: 15. Myeloproliferative neoplasms - Biology & Translational Research Background: Polycythemia vera (PV) disease is an acquired and clonal stem cell disorder characterized by abnormal erythropoiesis. Identifying a unique mutation of increased activity in the Janus kinase 2 (JAK2) gene in patients with chronic myeloproliferative disorders has provided a beneficial diagnostic method. Aims: The present study evaluated exon 12 mutations in the JAK2 gene in patients with PV who had no V617F mutation. Methods: This cross-sectional study was conducted on adult patients with PV who were referred to the blood department of Shariati Hospital (Tehran, Iran) between 2013 and 2016. All samples were sent for flow cytometry to check cells for leukemia and cell line. Further, chromosomal karyotype was checked by the metaphase culture method on all samples. In this study, cDNA was isolated from the samples of PV patients without the V617F mutation. Sequencing was performed using the BigDye Terminator Sequencing Kit (Applied Biosystems), version 1.1. The identified sequence was then confirmed by Sanger sequencing. Finally, the presence of the mutation in the determined sequence was examined by DNASIS software. Ultimately, the data were statistically analyzed using SPSS software, version 22. Results: In general, 150 patients with an average age of 46.30±19.50 years were included in this study. In 12 patients (eight percent), mutations were detected in the exon 12 of the JAK2 gene, including two novel genetic mutations (NG_009904.1:g.89793T>G and NG_009904.1 (JAK2_i001)) that had not been reported previously (Figure1). A significant decrease was observed in the platelet count, while a significant increase was found in the hemoglobin level in patients with mutations compared to patients without mutations (P<0.001, P=0.023). Among 23 patients, the average percentage of the bone blast was 1.78±0.95, and out of 25 patients, three cases had mutations in exon 12, and all of them had increased erythropoiesis.Figure 1. Electropherogram of a patient with a newly identified mutation in the JAK2 gene exon 12. The top and bottom pictures show the sample without and with mutations, respectively. The result of sequencing in this patient was the substitution of G nucleotide acid instead of T nucleotide at position 89793, resulting in the substitution of amino acid lysine instead of asparagine at position 542 (Asn542Lys). Summary/Conclusion: Overall, a relationship was found between hemoglobin and platelet levels with mutations in exon 12. In terms of polymorphism, heterozygote was the most common type, and the JAK2 gene mutation in exon 12 was observed in all patients with erythrocytosis. These findings can help better diagnose and find better treatment methods for PV patients in future studies. Keywords: Gene mutation, Mutation, Kinase domain mutant, Polycythemia vera" @default.
• W4385655481 created "2023-08-09" @default.
• W4385655481 creator A5019889649 @default.
• W4385655481 creator A5025144088 @default.
• W4385655481 creator A5040348288 @default.
• W4385655481 creator A5057403432 @default.
• W4385655481 creator A5080013459 @default.
• W4385655481 creator A5088314873 @default.
• W4385655481 date "2023-08-01" @default.
• W4385655481 modified "2023-09-27" @default.
• W4385655481 title "PB2178: EVALUATION OF JAK2 EXON 12 MUTATIONS IN PATIENTS WITH JAK2 (V617F)-NEGATIVE POLYCYTHEMIA VERA" @default.
• W4385655481 doi "https://doi.org/10.1097/01.hs9.0000975464.70245.5d" @default.
• W4385655481 hasPublicationYear "2023" @default.
• W4385655481 type Work @default.
• W4385655481 citedByCount "0" @default.
• W4385655481 crossrefType "journal-article" @default.
• W4385655481 hasAuthorship W4385655481A5019889649 @default.
• W4385655481 hasAuthorship W4385655481A5025144088 @default.
• W4385655481 hasAuthorship W4385655481A5040348288 @default.
• W4385655481 hasAuthorship W4385655481A5057403432 @default.
• W4385655481 hasAuthorship W4385655481A5080013459 @default.
• W4385655481 hasAuthorship W4385655481A5088314873 @default.
• W4385655481 hasBestOaLocation W43856554811 @default.
• W4385655481 hasConcept C104317684 @default.
• W4385655481 hasConcept C126322002 @default.
• W4385655481 hasConcept C153911025 @default.
• W4385655481 hasConcept C2778837598 @default.
• W4385655481 hasConcept C2781057849 @default.
• W4385655481 hasConcept C2910079294 @default.
• W4385655481 hasConcept C32465701 @default.
• W4385655481 hasConcept C36823959 @default.
• W4385655481 hasConcept C501734568 @default.
• W4385655481 hasConcept C54355233 @default.
• W4385655481 hasConcept C71924100 @default.
• W4385655481 hasConcept C76818968 @default.
• W4385655481 hasConcept C86803240 @default.
• W4385655481 hasConceptScore W4385655481C104317684 @default.
• W4385655481 hasConceptScore W4385655481C126322002 @default.
• W4385655481 hasConceptScore W4385655481C153911025 @default.
• W4385655481 hasConceptScore W4385655481C2778837598 @default.
• W4385655481 hasConceptScore W4385655481C2781057849 @default.
• W4385655481 hasConceptScore W4385655481C2910079294 @default.
• W4385655481 hasConceptScore W4385655481C32465701 @default.
• W4385655481 hasConceptScore W4385655481C36823959 @default.
• W4385655481 hasConceptScore W4385655481C501734568 @default.
• W4385655481 hasConceptScore W4385655481C54355233 @default.
• W4385655481 hasConceptScore W4385655481C71924100 @default.
• W4385655481 hasConceptScore W4385655481C76818968 @default.
• W4385655481 hasConceptScore W4385655481C86803240 @default.
• W4385655481 hasIssue "S3" @default.
• W4385655481 hasLocation W43856554811 @default.
• W4385655481 hasLocation W43856554812 @default.
• W4385655481 hasOpenAccess W4385655481 @default.
• W4385655481 hasPrimaryLocation W43856554811 @default.
• W4385655481 hasRelatedWork W2003326259 @default.
• W4385655481 hasRelatedWork W2016692566 @default.
• W4385655481 hasRelatedWork W2081429895 @default.
• W4385655481 hasRelatedWork W2126894917 @default.
• W4385655481 hasRelatedWork W2433283357 @default.
• W4385655481 hasRelatedWork W2494820599 @default.
• W4385655481 hasRelatedWork W2537064397 @default.
• W4385655481 hasRelatedWork W3016251363 @default.
• W4385655481 hasRelatedWork W4312560553 @default.
• W4385655481 hasRelatedWork W44511398 @default.
• W4385655481 hasVolume "7" @default.
• W4385655481 isParatext "false" @default.
• W4385655481 isRetracted "false" @default.
• W4385655481 workType "article" @default.