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The genetics of pre-eclampsia
Published in Pankaj Desai, Pre-eclampsia, 2020
To date, numerous genetic studies, using both the candidate gene and genome-wide approach, have been undertaken to identify the genetic basis of pre-eclampsia, if any. Such studies have identified some promising candidate genes such as STOX1 and ACVR2A. Nevertheless, researchers face ongoing challenges of replicating these genetic associations in different populations and performing the functional validation of identified genetic variants to determine their causality in the disorder.7
TGF-β signaling in testicular development, spermatogenesis, and infertility
Published in Rajender Singh, Molecular Signaling in Spermatogenesis and Male Infertility, 2019
Poonam Mehta, Meghali Joshi, Rajender Singh
Inhibin-α deficiency is associated with testicular tumors, because inhibin and FSH levels are inversely related and FSH regulates the gonadal cell proliferation (89). Recently, transcriptome analysis studies in seminomas and of TCam-2 seminoma model cell line revealed the potentially active pathways. Combined datasets from Affymetrix microarrays and RNAseq analysis revealed the presence of transcript levels of TGF-β signaling. GDF3, GDF11 and BMP7 transcripts were consistently detected in seminomas and TCam-2. Transcripts encoding receptor proteins such as ACVR1A and ACVR1B, ACVR2A and ACVR2B were also detected at high levels (90).
Design, synthesis, and antitumor efficacy of novel 5-deazaflavin derivatives backed by kinase screening, docking, and ADME studies
Published in Journal of Enzyme Inhibition and Medicinal Chemistry, 2023
Walaa A. Bedewy, Mosaad S. Mohamed, Ahmed M. Abdelhameed, Mohamed A. Elsawy, Mohammed Al-Muhur, Noriyuki Ashida, Ashraf N Abdalla, Tamer A. Elwaie, Tomohisa Nagamatsu, Hamed I. Ali
Compound kinase inhibition profiling was undertaken to measure the effect of 20 protein kinases against two test compounds and the reference compound Imatinib (or Gleevec). The aim was to identify to what extent the compounds were able to inhibit the protein kinase tested. The profiling data for these two compounds showed low to moderate inhibition (>10%) with 6 of the kinases including ACVR2A, CAMK1, EGFR, FAK, FLT3, and SRC. Compound 4e showed the highest inhibition of all the compounds tested, with a 22% inhibition of FAK. The reference compound, Imatinib gave the highest inhibitions (>72%) with ABL1 and c-KIT, and moderate inhibitions (>20%) with BRAF, CAMK1, FLT1, and JNK1. All the other inhibitions observed were less than 20%. In addition to inhibitions, some of the compounds gave low to moderate activations with a few of the kinases tested, including CDK1/Cyclin A1, FLT3, and SRC. Compound 4k was observed to give the greatest activation with FLT3 at 24%. All the other activations noted were less than 20%.
Clinical value of identifying genes that inhibit hepatocellular carcinomas
Published in Expert Review of Molecular Diagnostics, 2022
Ugo Testa, Elvira Pelosi, Germana Castelli
Studies of comprehensive genome profiling have failed to show a specific pattern of genomic alterations in obesity-related HCCs [5–7]. However, in a recent study Peynol et al. reported some molecular features in HCCs associated with nonalcoholic steatohepatitis (NASH) [22]. Particularly, ACVR2A mutation frequency was higher in NASH-HCC than in other HCC etiologies (10% vs 3%) [22]. Furthermore, in these patients, a novel mutational signature (MutSig-NASH-HCC) was observed in 16% of patients. Mutational burden was higher in non-cirrhotic than in cirrhotic-NASH-HCC [22].
Application of next-generation sequencing in the diagnosis of gastric cancer
Published in Scandinavian Journal of Gastroenterology, 2022
Narges Moradi, Solmaz Ohadian Moghadam, Siamak Heidarzadeh
A 2013 study by Nagarajan et al. suggested how WGS is of great importance in uncovering chromosomal and microsatellite instability using various NGS platforms including Applied Biosystems SOLiD platform which leaded to identification of ACVR2A, RPL22, LMAN1 and PAPPA as mutated genes responsible for GC onset [67].