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Journal articles on the topic 'Gene functional characterization'

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Author: Grafiati

Published: 11 March 2023

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1

Jukic, Marin M., Volker M. Lauschke, Takahiro Saito, Masahiro Hiratsuka, and Magnus Ingelman-Sundberg. "Functional characterization of CYP2D7 gene variants." Pharmacogenomics 19, no. 12 (August 2018): 931–36. http://dx.doi.org/10.2217/pgs-2018-0065.

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2

Ramirez, M. S., T. R. Parenteau, D. Centron, and M. E. Tolmasky. "Functional characterization of Tn1331 gene cassettes." Journal of Antimicrobial Chemotherapy 62, no. 4 (June 27, 2008): 669–73. http://dx.doi.org/10.1093/jac/dkn279.

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3

KE, Dan-Xia, Kun-Peng PENG, Yan JIA, Shuo ZENG, Ying-Zhi WANG, and Jing-Yi ZHANG. "Functional Characterization of Soybean Cystatins Gene GmCYS2." Acta Agronomica Sinica 44, no. 8 (2018): 1159. http://dx.doi.org/10.3724/sp.j.1006.2018.01159.

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4

Thomas, Hugh. "Functional characterization of an IBD risk gene." Nature Reviews Gastroenterology & Hepatology 15, no. 4 (February 21, 2018): 191. http://dx.doi.org/10.1038/nrgastro.2018.17.

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5

Agrawal, N., and M. A. Brown. "Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases." Genes & Immunity 15, no. 8 (August 21, 2014): 521–27. http://dx.doi.org/10.1038/gene.2014.46.

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6

Steffensen, Ane Y., Mette Dandanell, Lars Jønson, Bent Ejlertsen, Anne-Marie Gerdes, Finn C. Nielsen, and Thomas vO Hansen. "Functional characterization of BRCA1 gene variants by mini-gene splicing assay." European Journal of Human Genetics 22, no. 12 (March 26, 2014): 1362–68. http://dx.doi.org/10.1038/ejhg.2014.40.

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7

Wang, Y., T. M. Hahn, S. Y. Tsai, and S. L. Woo. "Functional characterization of a unique liver gene promoter." Journal of Biological Chemistry 269, no. 12 (March 1994): 9137–46. http://dx.doi.org/10.1016/s0021-9258(17)37087-4.

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8

Bocchi, L., T. Fasano, C. Degirolamo, C. Candini, E. Favari, F. Bernini, S. Calandra, and S. Bertolini. "PO5-152 FUNCTIONAL CHARACTERIZATION OF ABCA1 GENE MUTANTS." Atherosclerosis Supplements 8, no. 1 (June 2007): 55. http://dx.doi.org/10.1016/s1567-5688(07)71162-5.

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9

Lu, Muxue, Zhigang Wang, Shan Fu, Guangzhe Yang, Mingxing Shi, Youshe Lu, Xiaohu Wang, and Jixing Xia. "Functional characterization of the SbNrat1 gene in sorghum." Plant Science 262 (September 2017): 18–23. http://dx.doi.org/10.1016/j.plantsci.2017.05.010.

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10

Salman, Alamery, Attia Kotb, Abdelhalim I. Ghazy, Eid I. Ibrahim, and Talal K. Al-Ateeq. "Structural and functional characterization of Tomato SUMO1 gene." Saudi Journal of Biological Sciences 27, no. 1 (January 2020): 352–57. http://dx.doi.org/10.1016/j.sjbs.2019.10.004.

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11

Shyu, R. Y., Y. C. Hsieh, F. M. Tsai, C. C. Wu, and S. Y. Jiang. "Cloning and functional characterization of the HRASLS2 gene." Amino Acids 35, no. 1 (December 28, 2007): 129–37. http://dx.doi.org/10.1007/s00726-007-0612-2.

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12

Clarke, Emily, Nusrat Rahman, Natalie Page, Michael S. Rolph, Graeme J. Stewart, and Graham J. Jones. "Functional characterization of the atopy-associated gene PHF11." Journal of Allergy and Clinical Immunology 121, no. 5 (May 2008): 1148–54. http://dx.doi.org/10.1016/j.jaci.2008.02.028.

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13

Tick, Gabriella, Imre Cserpán, Viktor Dombrádi, Bernard M. Mechler, István Török, and István Kiss. "Structural and Functional Characterization of theDrosophilaGlycogen Phosphorylase Gene." Biochemical and Biophysical Research Communications 257, no. 1 (April 1999): 34–43. http://dx.doi.org/10.1006/bbrc.1999.0396.

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14

Roh, Hyungmin. "Functional Characterization of EFC Gene in Plant Development." Asia-pacific Journal of Convergent Research Interchange 8, no. 12 (December 31, 2022): 231–40. http://dx.doi.org/10.47116/apjcri.2022.12.19.

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15

Bettembourg, Charles, Christian Diot, and Olivier Dameron. "Semantic Particularity Measure for Functional Characterization of Gene Sets Using Gene Ontology." PLoS ONE 9, no. 1 (January 28, 2014): e86525. http://dx.doi.org/10.1371/journal.pone.0086525.

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16

Jenkins, G. Scott, Mark S. Chandler, and Pamela S. Fink. "Functional characterization of the Haemophilus influenzae 4.5S RNA." Canadian Journal of Microbiology 44, no. 1 (January 1, 1998): 91–94. http://dx.doi.org/10.1139/w97-124.

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The putative 4.5S RNA of Haemophilus influenzae was identified in the genome by computer analysis, amplified by the polymerase chain reaction, and cloned. We have determined that this putative 4.5S RNA will complement an Escherichia coli strain conditionally defective in 4.5S RNA production. The predicted secondary structures of the molecules were quite similar, but Northern analysis showed that the H. influenzae RNA was slightly larger than the E. coli RNA. The H. influenzae gene encoding this RNA is the functional homolog of the ffs gene in E. coli. Key words: ffs gene, complementation studies, small RNA, prokaryotic genetics.

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17

Kim, Doo-Hyun, Heung-Joong Kim, Moon-Jin Jeong, Ho-Hyun Son, and Joo-Cheol Park. "Expression and functional characterization of odontoblast-derived gene: OD314." Journal of Korean Academy of Conservative Dentistry 29, no. 4 (2004): 399. http://dx.doi.org/10.5395/jkacd.2004.29.4.399.

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18

Ansari, Sekhu, Dharmendra Nath Bhatt, Chandni Sood, and Asis Datta. "Functional characterization of the LdNAGD gene in Leishmania donovani." Microbiological Research 251 (October 2021): 126830. http://dx.doi.org/10.1016/j.micres.2021.126830.

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19

Jung, Kwang-Woo, Shinae Maeng, and Yong-Sun Bahn. "Functional Characterization of cAMP-Regulated Gene,CAR1, inCryptococcus neoformans." Mycobiology 38, no. 1 (2010): 26. http://dx.doi.org/10.4489/myco.2010.38.1.026.

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20

van Amerongen, Renée, Hanneke van der Gulden, Fonnet Bleeker, Jos Jonkers, and Anton Berns. "Characterization and Functional Analysis of the Murine Frat2 Gene." Journal of Biological Chemistry 279, no. 26 (April 8, 2004): 26967–74. http://dx.doi.org/10.1074/jbc.m400439200.

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21

Li, Zhihua, Bingwei Wang, Xuefei Wu, Shi-Yuan Cheng, Luminita Paraoan, and Jiawei Zhou. "Identification, expression and functional characterization of the GRAL gene." Journal of Neurochemistry 95, no. 2 (October 2005): 361–76. http://dx.doi.org/10.1111/j.1471-4159.2005.03372.x.

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22

Duan, Shuo, Hongge Jia, Zhiqian Pang, Doron Teper, Frank White, Jeffrey Jones, Changyong Zhou, and Nian Wang. "Functional characterization of the citrus canker susceptibility gene CsLOB1." Molecular Plant Pathology 19, no. 8 (March 30, 2018): 1908–16. http://dx.doi.org/10.1111/mpp.12667.

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23

Ardisson-Araujo, Daniel M. P., George F. Rohrmann, Bergmann M. Ribeiro, and Rollie J. Clem. "Functional characterization of hesp018, a baculovirus-encoded serpin gene." Journal of General Virology 96, no. 5 (May 1, 2015): 1150–60. http://dx.doi.org/10.1099/vir.0.000041.

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24

Tiscia, Giovanni Luca, Elisabeth Dørum, Christiane Filion Myklebust, Elvira Grandone, Per Morten Sandset, and Grethe Skretting. "Functional characterization of annexin A5 gene promoter allelic variants." Thrombosis Research 144 (August 2016): 93–99. http://dx.doi.org/10.1016/j.thromres.2016.06.009.

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25

Holzmann, Carsten, Thorsten Schmidt, Gerald Thiel, Jörg T. Epplen, and Olaf Riess. "Functional characterization of the human Huntington’s disease gene promoter." Molecular Brain Research 92, no. 1-2 (August 2001): 85–97. http://dx.doi.org/10.1016/s0169-328x(01)00149-8.

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26

Cui, He, Xi Lan, Shemin Lu, Fujun Zhang, and Wanggang Zhang. "Bioinformatic prediction and functional characterization of human KIAA0100 gene." Journal of Pharmaceutical Analysis 7, no. 1 (February 2017): 10–18. http://dx.doi.org/10.1016/j.jpha.2016.09.003.

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27

Xu, Peipei, and Weiming Cai. "Functional characterization of the BnNCED3 gene in Brassica napus." Plant Science 256 (March 2017): 16–24. http://dx.doi.org/10.1016/j.plantsci.2016.11.012.

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28

Zhang, Xuemei, Zihan Cheng, Kai Zhao, Wenjing Yao, Xiaomei Sun, Tingbo Jiang, and Boru Zhou. "Functional characterization of poplar NAC13 gene in salt tolerance." Plant Science 281 (April 2019): 1–8. http://dx.doi.org/10.1016/j.plantsci.2019.01.003.

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29

Carstea, Eugene D., Gary J. Murray, and Raymond R. O'Neill. "Molecular and functional characterization of the murine glucocerebrosidase gene." Biochemical and Biophysical Research Communications 184, no. 3 (May 1992): 1477–83. http://dx.doi.org/10.1016/s0006-291x(05)80049-x.

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30

Wenkert, David, Torsten Schoneberg, John J. Merendino, Maria Sol Rodriguez Pena, Ruth Vinitsky, Paul K. Goldsmith, Jurgen Wess, and Allen M. Spiegel. "Functional characterization of five V2 vasopressin receptor gene mutations." Molecular and Cellular Endocrinology 124, no. 1-2 (November 1996): 43–50. http://dx.doi.org/10.1016/s0303-7207(96)03926-3.

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31

Braastad, Corey D., Hayk Hovhannisyan, Andre J. van Wijnen, Janet L. Stein, and Gary S. Stein. "Functional characterization of a human histone gene cluster duplication." Gene 342, no. 1 (November 2004): 35–40. http://dx.doi.org/10.1016/j.gene.2004.07.036.

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32

Wilkerson, Paul M., Konstantin J. Dedes, Daniel Wetterskog, Alan Mackay, Maryou B. Lambros, Marthe Mansour, Jessica Frankum, et al. "Functional characterization of EMSY gene amplification in human cancers." Journal of Pathology 225, no. 1 (July 7, 2011): 29–42. http://dx.doi.org/10.1002/path.2944.

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33

Wei, Kaifa, Si Pan, and Yang Li. "Functional Characterization of Maize C2H2 Zinc-Finger Gene Family." Plant Molecular Biology Reporter 34, no. 4 (November 27, 2015): 761–76. http://dx.doi.org/10.1007/s11105-015-0958-7.

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34

Skretting, Grethe, Benedicte Stavik, Nina E. Landvik, Christiane F. Myklebust, Nina Iversen, Shan Zienolddiny, and Per Morten Sandset. "Functional characterization of polymorphisms in the human TFPI gene." Biochemical and Biophysical Research Communications 397, no. 1 (June 2010): 106–11. http://dx.doi.org/10.1016/j.bbrc.2010.05.078.

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35

Ma, Jun, Li Chen, Xiao‐Xiao He, Ya‐Jun Wang, Hua‐Li Yu, Zi‐Xuan He, Lu‐Qing Zhang, Yao‐Wu Zheng, and Xiao‐Juan Zhu. "Functional prediction and characterization of Dip2 gene in mice." Cell Biology International 43, no. 4 (February 19, 2019): 421–28. http://dx.doi.org/10.1002/cbin.11106.

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36

Salamon, Csaba, Matthew Chervenak, Joram Piatigorsky, and Christina M. Sax. "The Mouse Transketolase (TKT) Gene: Cloning, Characterization, and Functional Promoter Analysis." Genomics 48, no. 2 (March 1998): 209–20. http://dx.doi.org/10.1006/geno.1997.5187.

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37

Zou, Qing Yu, Fu Liu, and Hou Tao. "Topology Analysis of a Metabolic Functional Gene Transcriptional Regulatory Network of Escherichia Coli." Applied Mechanics and Materials 461 (November 2013): 648–53. http://dx.doi.org/10.4028/www.scientific.net/amm.461.648.

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Under the perspectives of network science and systems biology, the characterizations of transcriptional regulatory networks (TRNs) beyond the context of model organisms have been studied extensively. However, little is still known about the structure and functionality of TRNs that control metabolic physiological processes. In this study, we present a newly version of the TRN of E.coli controlling metabolism based on functional annotations from GeneProtEC and Gene Ontology (GO). We also present an exhaustive topological analysis of the metabolic transcriptional regulatory network (MTRN), focusing on the main statistical characterization describing the topological structure and the comparison with TRN. From the results in this paper we infer that TRN and MTRN have very similar characteristic distribution.

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38

Ee, Su-Fang, Zeti-Azura Mohamed-Hussein, Roohaida Othman, Noor Azmi Shaharuddin, Ismanizan Ismail, and Zamri Zainal. "Functional Characterization of Sesquiterpene Synthase fromPolygonum minus." Scientific World Journal 2014 (2014): 1–11. http://dx.doi.org/10.1155/2014/840592.

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Polygonum minusis an aromatic plant, which contains high abundance of terpenoids, especially the sesquiterpenes C15H24. Sesquiterpenes were believed to contribute to the many useful biological properties in plants. This study aimed to functionally characterize a full length sesquiterpene synthase gene fromP. minus.P. minussesquiterpene synthase (PmSTS) has a complete open reading frame (ORF) of 1689 base pairs encoding a 562 amino acid protein. Similar to other sesquiterpene synthases, PmSTS has two large domains: the N-terminal domain and the C-terminal metal-binding domain. It also consists of three conserved motifs: the DDXXD, NSE/DTE, and RXR. A three-dimensional protein model for PmSTS built clearly distinguished the two main domains, where conserved motifs were highlighted. We also constructed a phylogenetic tree, which showed that PmSTS belongs to the angiosperm sesquiterpene synthase subfamily Tps-a. To examine the function ofPmSTS, we expressed this gene inArabidopsis thaliana. Two transgenic lines, designated asOE3andOE7, were further characterized, both molecularly and functionally. The transgenic plants demonstrated smaller basal rosette leaves, shorter and fewer flowering stems, and fewer seeds compared to wild type plants. Gas chromatography-mass spectrometry analysis of the transgenic plants showed that PmSTS was responsible for the production ofβ-sesquiphellandrene.

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39

Brown, J. R., I. O. Daar, J. R. Krug, and L. E. Maquat. "Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family." Molecular and Cellular Biology 5, no. 7 (July 1985): 1694–706. http://dx.doi.org/10.1128/mcb.5.7.1694-1706.1985.

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The functional gene and three intronless pseudogenes for human triosephosphate isomerase were isolated from a recombinant DNA library and characterized in detail. The functional gene spans 3.5 kilobase pairs and is split into seven exons. Its promoter contains putative TATA and CCAAT boxes and is extremely rich in G and C residues (76%). The pseudogenes share a high degree of homology with the functional gene but contain mutations that preclude the synthesis of an active triosephosphate isomerase enzyme. Sequence divergence calculations indicate that these pseudogenes arose approximately 18 million years ago. We present evidence that there is a single functional gene in the human triosephosphate isomerase gene family.

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40

Brown, J. R., I. O. Daar, J. R. Krug, and L. E. Maquat. "Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family." Molecular and Cellular Biology 5, no. 7 (July 1985): 1694–706. http://dx.doi.org/10.1128/mcb.5.7.1694.

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The functional gene and three intronless pseudogenes for human triosephosphate isomerase were isolated from a recombinant DNA library and characterized in detail. The functional gene spans 3.5 kilobase pairs and is split into seven exons. Its promoter contains putative TATA and CCAAT boxes and is extremely rich in G and C residues (76%). The pseudogenes share a high degree of homology with the functional gene but contain mutations that preclude the synthesis of an active triosephosphate isomerase enzyme. Sequence divergence calculations indicate that these pseudogenes arose approximately 18 million years ago. We present evidence that there is a single functional gene in the human triosephosphate isomerase gene family.

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41

Baine, Y., B. M. Stankunas, P. Miller, C. Hobbs, L. Tiberio, J. Koch, K. Yoon, D. Sawutz, and C. Surowy. "Functional characterization of novel IL-2 transcriptional inhibitors." Journal of Immunology 154, no. 8 (April 15, 1995): 3667–77. http://dx.doi.org/10.4049/jimmunol.154.8.3667.

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Abstract IL-2-mediated T cell proliferation is a critical early event in the inflammatory process. Formation of the NFAT-1 transcriptional complex on the IL-2 promoter is essential for IL-2 transcription. Using a cell line that is stably transfected with a trimer of the NFAT-1 regulatory element linked to a lac-Z reporter gene, we screened for inhibitors of NFAT-1-mediated beta-galactosidase activity. WIN 61058 and WIN 53071 were identified as microM inhibitors. These compounds also inhibited beta-galactosidase mRNA levels. Similar inhibition of NFAT-1-mediated gene expression was observed in a second cell line, which is stably transfected with NFAT-1 regulatory elements linked to the reporter gene for sCD8. At 10 microM, both compounds inhibited IL-2 mRNA and protein levels in the NFAT-1-linked lac-Z transfectants, and in human lymphocytes. Both compounds inhibited the mixed lymphocyte reaction, and this inhibition was reversed by exogenous IL-2. WIN 53071 inhibited IL-2 production induced in the calcium-dependent PMA and ionomycin pathway. Conversely, calcium-independent anti-CD28 Ab and PMA-induced IL-2 production was resistant. Both compounds altered the NFAT-1 transcriptional complex, causing its retarded mobility on gels. By these functional criteria, we believe we have identified two structurally distinct, novel inhibitors of NFAT-1-mediated transcription.

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42

Woszczek, Grzegorz, Rafal Pawliczak, Hai-Yan Qi, Sahrudaya Nagineni, Sura Alsaaty, Carolea Logun, and James H. Shelhamer. "Functional Characterization of Human Cysteinyl Leukotriene 1 Receptor Gene Structure." Journal of Immunology 175, no. 8 (October 6, 2005): 5152–59. http://dx.doi.org/10.4049/jimmunol.175.8.5152.

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43

Wang, L., Y. C. Chen, D. J. Zhang, H. T. Li, D. Liu, and X. Q. Yang. "Functional characterization of genetic variants in the porcine TLR3 gene." Genetics and Molecular Research 13, no. 1 (2014): 1348–57. http://dx.doi.org/10.4238/2014.february.28.7.

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44

Wang, Haipeng, Li Wang, Juan Li, Fang Fu, Yao Zheng, and Ling Zhang. "Molecular characterization, expression and functional analysis of yak IFITM3 gene." International Journal of Biological Macromolecules 184 (August 2021): 349–57. http://dx.doi.org/10.1016/j.ijbiomac.2021.06.057.

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45

Setiady, Yulius Yulianto, Masami Sekine, Norimitsu Hariguchi, Takuo Yamamoto, Hiroshi Kouchi, and Atsuhiko Shinmyo. "Tobacco mitotic cyclins: cloning, characterization, gene expression and functional assay." Plant Journal 8, no. 6 (December 1995): 949–57. http://dx.doi.org/10.1046/j.1365-313x.1995.8060949.x.

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46

Armesilla, Angel L., Dominica Calvo, and Miguel A. Vega. "Structural and Functional Characterization of the Human CD36 Gene Promoter." Journal of Biological Chemistry 271, no. 13 (March 29, 1996): 7781–87. http://dx.doi.org/10.1074/jbc.271.13.7781.

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47

Blanco, Moisés, Manuel Becerra, M. Isabel González-Siso, and M. Esperanza Cerdán. "Functional characterization of KlHEM13, a hypoxic gene of Kluyveromyces lactis." Canadian Journal of Microbiology 51, no. 3 (March 1, 2005): 241–49. http://dx.doi.org/10.1139/w04-133.

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The KlHEM13 gene of Kluyveromyces lactis encoding the coproporphyrinogen oxidase (EC 1.3.3.3), an oxygen-requiring enzyme that catalyzes the sixth step of heme biosynthesis, was cloned and functionally characterized. The coding and upstream regions of KlHEM13 were analyzed and the putative cis regulatory elements were discussed in relation to the mechanisms of regulation of this hypoxic gene in K. lactis.Key words: coproporphyrinogen oxidase (CPO), HEM13, hypoxic genes, Kluyveromyces lactis.

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48

Blanco, Moisés, Manuel Becerra, M. Isabel González-Siso, and M. Esperanza Cerdán. "Functional characterization of KIHEM13, a hypoxic gene of Kluyveromyces lactis." Canadian Journal of Microbiology 51, no. 5 (May 1, 2005): 431. http://dx.doi.org/10.1139/w05-068.

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49

McDonnell, Kevin, Joseph A. Chemler, Monica L. Marvin, Ralph H. Stern, Leon Raskin, David H. Sherman, and Stephen B. Gruber. "Identification and functional characterization of a novel MUTYH gene mutation." Journal of Clinical Oncology 30, no. 15_suppl (May 20, 2012): e12026-e12026. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.e12026.

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e12026 Background: Biallelic germline mutations in MUTYH result in the autosomal recessive syndrome of MUTYH associated polyposis (MAP).Three well-known, common mutations account for the vast majority of identifiable germline mutations, and serve as the basis for current genetic testing strategies. Comprehensive sequencing of MUTYH often identifies variants of uncertain pathologic significance, and studies to determine the pathogenicity of newly identified variants may offer valuable clinical information and mechanistic insights. In the present study we seek to describe the base-excision repair function of a novel MUTYH (p.C306W) mutation identified in a patient with multiple colon polyps and a family history of colon cancers. Methods: A 50 year old patient with >50 adenomas underwent clinical and laboratory evaluation to assess for germline genetic mutations. We performed Sanger sequencing of tumor and germline DNA together with targeted restriction enzyme digest of germline DNA and fragment DNA sequencing of the alleles. We prepared MUTYH proteins with protein liquid chromatography and assessed their mismatched adenine excision repair capacity employing a glycosylase assay. Results: Analysis of the patient's germline DNA revealed an absence of APC mutations, and the presence of the previously well characterized p.G396D MUTYH mutation as well as a novel p.C306W mutation. Targeted restriction enzyme digest demonstrated trans configuration of the p.G396D and p.C306W MUTYH mutations. Mismatched adenine excision functionality of wildtype MUTYH, known mutant controls p.G396D and p.Y179C, and putative mutant p.C306W were assessed in the glycosylase assay. Consistent with previous experimental observations, relative to wildtype MUTYH, the p.G396D and p.Y179C MUTYH mutants demonstrated attenuated adenine excision activities of 43% and 0%, respectively. Comparable to the activity of the pY179C mutant, the novel p.C306D mutant demonstrated 0% adenine excision activity. Subsequent tumor analysis demonstrated G:C to T:A transversion in the APC gene in somatic DNA derived from an adenoma. Conclusions: Experimental and clinical data demonstrate that p.C306D MUTYH is a pathogenic mutation contributing to the phenotype of MAP.

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50

Panguluri, Siva K., Prasanna Kumar, and Subba R. Palli. "Functional characterization of ecdysone receptor gene switches in mammalian cells." FEBS Journal 273, no. 24 (November 10, 2006): 5550–63. http://dx.doi.org/10.1111/j.1742-4658.2006.05545.x.

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