Статті в журналах з теми "SITE MUTATION"
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Ozdemir, D., P. S. Hart, O. H. Ryu, S. J. Choi, M. Ozdemir-Karatas, E. Firatli, N. Piesco, and T. C. Hart. "MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta." Journal of Dental Research 84, no. 11 (November 2005): 1031–35. http://dx.doi.org/10.1177/154405910508401112.
Повний текст джерелаBianchi, F., S. Rosati, L. Belvederesi, C. Loretelli, R. Catalani, A. Mandolesi, R. Bracci, I. Bearzi, E. Porfiri, and R. Cellerino. "MSH2 splice site mutation and endometrial cancer." International Journal of Gynecologic Cancer 16, no. 3 (2006): 1419–23. http://dx.doi.org/10.1136/ijgc-00009577-200605000-00072.
Повний текст джерелаAgosto, Melina A., Jason K. Middleton, Elaine C. Freimont, John Yin та Max L. Nibert. "Thermolabilizing Pseudoreversions in Reovirus Outer-Capsid Protein μ1 Rescue the Entry Defect Conferred by a Thermostabilizing Mutation". Journal of Virology 81, № 14 (16 травня 2007): 7400–7409. http://dx.doi.org/10.1128/jvi.02720-06.
Повний текст джерелаBauer, C. E., J. F. Gardner, R. I. Gumport, and R. A. Weisberg. "The effect of attachment site mutations on strand exchange in bacteriophage lambda site-specific recombination." Genetics 122, no. 4 (August 1, 1989): 727–36. http://dx.doi.org/10.1093/genetics/122.4.727.
Повний текст джерелаJoseph, Ranjit, Paul Little, David N. Hayes, and Michael Sangmin Lee. "Characterization of the number and site of APC mutations in sporadic colorectal cancer." Journal of Clinical Oncology 35, no. 4_suppl (February 1, 2017): 630. http://dx.doi.org/10.1200/jco.2017.35.4_suppl.630.
Повний текст джерелаYamazaki, Tomio, Akira Katsumi, Yoshihiro Okamoto, Toshio Takafuta, Shinobu Tsuzuki, Kazuo Kagami, Isamu Sugiura, Tetsuhito Kojima, Kingo Fujimura, and Hidehiko Saito. "Two Distinct Novel Splice Site Mutations in a Compound Heterozygous Patient with Protein S Deficiency." Thrombosis and Haemostasis 77, no. 01 (1997): 014–20. http://dx.doi.org/10.1055/s-0038-1655729.
Повний текст джерелаChattopadhyay, Maitreyi, Vera A. Stupina, Feng Gao, Christine R. Szarko, Micki M. Kuhlmann, Xuefeng Yuan, Kerong Shi, and Anne E. Simon. "Requirement for Host RNA-Silencing Components and the Virus-Silencing Suppressor when Second-Site Mutations Compensate for Structural Defects in the 3′ Untranslated Region." Journal of Virology 89, no. 22 (September 9, 2015): 11603–18. http://dx.doi.org/10.1128/jvi.01566-15.
Повний текст джерелаWang, Zhihong, Yanhong Lin, Liping Qiu, Dezhu Zheng, Aizhen Yan, Jian Zeng, and Fenghua Lan. "Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype." Clinical Chemistry and Laboratory Medicine (CCLM) 54, no. 9 (September 1, 2016): 1435–40. http://dx.doi.org/10.1515/cclm-2015-1042.
Повний текст джерелаCook, Jonathan, Elizabeth de Wolf, and Nicholas Dale. "Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro." Royal Society Open Science 6, no. 8 (August 2019): 191128. http://dx.doi.org/10.1098/rsos.191128.
Повний текст джерелаGuo, Wenting, Bo Sun, John Paul Estillore, Ruiwu Wang, and S. R. Wayne Chen. "The central domain of cardiac ryanodine receptor governs channel activation, regulation, and stability." Journal of Biological Chemistry 295, no. 46 (September 2, 2020): 15622–35. http://dx.doi.org/10.1074/jbc.ra120.013512.
Повний текст джерелаIto, Kiyoaki, Yanli Qin, Michael Guarnieri, Tamako Garcia, Karen Kwei, Masashi Mizokami, Jiming Zhang, Jisu Li, Jack R. Wands, and Shuping Tong. "Impairment of Hepatitis B Virus Virion Secretion by Single-Amino-Acid Substitutions in the Small Envelope Protein and Rescue by a Novel Glycosylation Site." Journal of Virology 84, no. 24 (September 29, 2010): 12850–61. http://dx.doi.org/10.1128/jvi.01499-10.
Повний текст джерелаBebenek, Anna, Geraldine T. Carver, Holly Kloos Dressman, Farid A. Kadyrov, Joseph K. Haseman, Vasiliy Petrov, William H. Konigsberg, Jim D. Karam, and John W. Drake. "Dissecting the Fidelity of Bacteriophage RB69 DNA Polymerase: Site-Specific Modulation of Fidelity by Polymerase Accessory Proteins." Genetics 162, no. 3 (November 1, 2002): 1003–18. http://dx.doi.org/10.1093/genetics/162.3.1003.
Повний текст джерелаYu, Yongfeng, Rongrong Chen, Jun Zhao, Xin Yi, and Shun Lu. "Analysis of canonical and noncanonical splicing site mutation of MET that causes exon 14 skipping." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): e21513-e21513. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e21513.
Повний текст джерелаClaes, Kathleen, Eva Machackova, Michel De Vos, Bruce Poppe, Anne De Paepe, and Ludwine Messiaen. "Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G." Disease Markers 15, no. 1-3 (1999): 69–73. http://dx.doi.org/10.1155/1999/241046.
Повний текст джерелаJenkins, Gareth J. S., Morteza Hashemzadeh Chaleshtori, Honglin Song, and James M. Parry. "Mutation analysis using the restriction site mutation (RSM) assay." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 405, no. 2 (September 1998): 209–20. http://dx.doi.org/10.1016/s0027-5107(98)00138-9.
Повний текст джерелаLin, Wen-Ying, Kang-Yang Jih, and Tzyh-Chang Hwang. "A single amino acid substitution in CFTR converts ATP to an inhibitory ligand." Journal of General Physiology 144, no. 4 (September 15, 2014): 311–20. http://dx.doi.org/10.1085/jgp.201411247.
Повний текст джерелаPuranen, T. J., M. H. Poutanen, H. E. Peltoketo, P. T. Vihko та R. K. Vihko. "Site-directed mutagenesis of the putative active site of human 17β-hydroxysteroid dehydrogenase type 1". Biochemical Journal 304, № 1 (15 листопада 1994): 289–93. http://dx.doi.org/10.1042/bj3040289.
Повний текст джерелаNeinavaie, Fargam, and Andrew Kramer. "Abstract A038: Does mutation rate of cancer cells change as the stage of the disease advances?" Cancer Research 82, no. 10_Supplement (May 15, 2022): A038. http://dx.doi.org/10.1158/1538-7445.evodyn22-a038.
Повний текст джерелаYang, Zhi, Priyatama Pandey, Darryl Shibata, David V. Conti, Paul Marjoram, and Kimberly D. Siegmund. "HiLDA: a statistical approach to investigate differences in mutational signatures." PeerJ 7 (August 28, 2019): e7557. http://dx.doi.org/10.7717/peerj.7557.
Повний текст джерелаKraut, Daniel A., Paul A. Sigala, Timothy D. Fenn, and Daniel Herschlag. "Dissecting the paradoxical effects of hydrogen bond mutations in the ketosteroid isomerase oxyanion hole." Proceedings of the National Academy of Sciences 107, no. 5 (January 11, 2010): 1960–65. http://dx.doi.org/10.1073/pnas.0911168107.
Повний текст джерелаRiedmayr, Lisa M., Sybille Böhm, Martin Biel, and Elvir Becirovic. "Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site." Human Molecular Genetics 29, no. 2 (December 9, 2019): 295–304. http://dx.doi.org/10.1093/hmg/ddz291.
Повний текст джерелаRusso, Antonio, Viviana Bazan, Barry Iacopetta, David Kerr, Thierry Soussi, and Nicola Gebbia. "The TP53 Colorectal Cancer International Collaborative Study on the Prognostic and Predictive Significance of p53 Mutation: Influence of Tumor Site, Type of Mutation, and Adjuvant Treatment." Journal of Clinical Oncology 23, no. 30 (October 20, 2005): 7518–28. http://dx.doi.org/10.1200/jco.2005.00.471.
Повний текст джерелаDoward, W., R. Perveen, I. C. Lloyd, A. E. A. Ridgway, L. Wilson, and G. C. M. Black. "A mutation in the RIEG1 gene associated with Peters’ anomaly." Journal of Medical Genetics 36, no. 2 (February 1, 1999): 152–55. http://dx.doi.org/10.1136/jmg.36.2.152.
Повний текст джерелаPark, S., B. Park, I. Hwang, S. Lee, E. Cho, W. Kang, J. Ahn, M. Ahn, and K. Park. "Comparison of the epidermal growth factor receptor gene mutation in matched primary tumor and lymph node metastasis of non-small cell lung cancer." Journal of Clinical Oncology 25, no. 18_suppl (June 20, 2007): 7614. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.7614.
Повний текст джерелаJoerger, Andreas C., Hwee Ching Ang, Dmitry B. Veprintsev, Caroline M. Blair, and Alan R. Fersht. "Structures of p53 Cancer Mutants and Mechanism of Rescue by Second-site Suppressor Mutations." Journal of Biological Chemistry 280, no. 16 (February 9, 2005): 16030–37. http://dx.doi.org/10.1074/jbc.m500179200.
Повний текст джерелаMoir, Robyn D., Karen V. Puglia, and Ian M. Willis. "A Gain-of-Function Mutation in the Second Tetratricopeptide Repeat of TFIIIC131 Relieves Autoinhibition of Brf1 Binding." Molecular and Cellular Biology 22, no. 17 (September 1, 2002): 6131–41. http://dx.doi.org/10.1128/mcb.22.17.6131-6141.2002.
Повний текст джерелаMandl, Christian W., Steven L. Allison, Heidemarie Holzmann, Tamara Meixner, and Franz X. Heinz. "Attenuation of Tick-Borne Encephalitis Virus by Structure-Based Site-Specific Mutagenesis of a Putative Flavivirus Receptor Binding Site." Journal of Virology 74, no. 20 (October 15, 2000): 9601–9. http://dx.doi.org/10.1128/jvi.74.20.9601-9609.2000.
Повний текст джерелаINVERNIZZI, Cédric, Jonathan IMHOF, Gabriela BURKARD, Katharina SCHMID, and Arminio BOSCHETTI. "Effects of mutations at the two processing sites of the precursor for the small subunit of ribulose-bisphosphate carboxylase in Chlamydomonas reinhardtii." Biochemical Journal 366, no. 3 (September 15, 2002): 989–98. http://dx.doi.org/10.1042/bj20020378.
Повний текст джерелаIchikawa, Shoji, Kenneth W. Lyles, and Michael J. Econs. "A Novel GALNT3 Mutation in a Pseudoautosomal Dominant Form of Tumoral Calcinosis: Evidence That the Disorder Is Autosomal Recessive." Journal of Clinical Endocrinology & Metabolism 90, no. 4 (April 1, 2005): 2420–23. http://dx.doi.org/10.1210/jc.2004-2302.
Повний текст джерелаRodriguez, Cesar, Joshua Tompkin, Jill Hazel, and Patricia L. Foster. "Induction of a DNA Nickase in the Presence of Its Target Site Stimulates Adaptive Mutation in Escherichia coli." Journal of Bacteriology 184, no. 20 (October 15, 2002): 5599–608. http://dx.doi.org/10.1128/jb.184.20.5599-5608.2002.
Повний текст джерелаElliott, Steve, Tony Lorenzini, David Chang, Jack Barzilay, and Evelyne Delorme. "Mapping of the Active Site of Recombinant Human Erythropoietin." Blood 89, no. 2 (January 15, 1997): 493–502. http://dx.doi.org/10.1182/blood.v89.2.493.
Повний текст джерелаVan Kuilenburg, André B. P., Rutger Meinsma, Eva Beke, Barbara Bobba, Patrizia Boffi, Gregory M. Enns, David R. Witt, and Doreen Dobritzsch. "Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function." Biological Chemistry 386, no. 4 (April 1, 2005): 319–24. http://dx.doi.org/10.1515/bc.2005.038.
Повний текст джерелаTurner, Jeremy J. O., Poloko D. Leotlela, Anna A. J. Pannett, Simon A. Forbes, J. H. Duncan Bassett, Brian Harding, Paul T. Christie, et al. "Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1." Journal of Clinical Endocrinology & Metabolism 87, no. 6 (June 1, 2002): 2688–93. http://dx.doi.org/10.1210/jcem.87.6.8607.
Повний текст джерелаAmano, Eiichiro, Tomokatsu Yoshida, Ikuko Mizuta, Jun Oyama, Shingo Sakashita, Syunsuke Ueyama, Akira Machida, and Takanori Yokota. "Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease." Neurology Genetics 7, no. 6 (October 1, 2021): e626. http://dx.doi.org/10.1212/nxg.0000000000000626.
Повний текст джерелаMartyn, Gabriella E., Beeke Wienert, Ryo Kurita, Yukio Nakamura, Kate G. R. Quinlan, and Merlin Crossley. "A natural regulatory mutation in the proximal promoter elevates fetal globin expression by creating a de novo GATA1 site." Blood 133, no. 8 (February 21, 2019): 852–56. http://dx.doi.org/10.1182/blood-2018-07-863951.
Повний текст джерелаVora, Hemangini H., Shalvi V. Mehta, Shilin N. Shukla, and Pankaj M. Shah. "No Mutation Detected in Five Hot Spot Codons of the Tp53 Gene by Restriction Site Mutation Analysis in Patients with Carcinoma of the Tongue." International Journal of Biological Markers 25, no. 1 (January 2010): 46–51. http://dx.doi.org/10.1177/172460081002500107.
Повний текст джерелаMorris, Van Karlyle, Michael J. Overman, Cathy Eng, Eduardo Vilar Sanchez, Maria Morelli, Zhiqin Jiang, Rajyalakshmi Luthra, Dipen M. Maru, Funda Meric-Bernstam, and Scott Kopetz. "Clinicopathologic features of KRAS-mutated colorectal tumors vary by site of mutation." Journal of Clinical Oncology 31, no. 15_suppl (May 20, 2013): 3632. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.3632.
Повний текст джерелаDavis, Brad H., Art F. Y. Poon, and Michael C. Whitlock. "Compensatory mutations are repeatable and clustered within proteins." Proceedings of the Royal Society B: Biological Sciences 276, no. 1663 (February 25, 2009): 1823–27. http://dx.doi.org/10.1098/rspb.2008.1846.
Повний текст джерелаRamadhan, Dwi Syah Fitra, and Daryono H. Tjahjono. "Prediksi dan Identifikasi Struktur Protein EGFR Kanker Paru dengan Mutasi Titik L718Q/T790M Secara Pemodelan Homologi In Silico." Jurnal Sains dan Kesehatan 2, no. 4 (December 31, 2020): 491–96. http://dx.doi.org/10.25026/jsk.v2i4.257.
Повний текст джерелаFreije, José M. P., Pilar Blay, Nicholas J. MacDonald, Richard E. Manrow, and Patricia S. Steeg. "Site-directed Mutation of Nm23-H1." Journal of Biological Chemistry 272, no. 9 (February 28, 1997): 5525–32. http://dx.doi.org/10.1074/jbc.272.9.5525.
Повний текст джерелаTAKAGI, Hitoshi, and Masatomo MORI. "New Mutation Site of Cholinesterase Gene." Internal Medicine 36, no. 1 (1997): 1–2. http://dx.doi.org/10.2169/internalmedicine.36.1.
Повний текст джерелаYun, Jiwon, Jung-Ah Kim, Byungjin Hwang, Hee Sue Park, Kyongok Im, Sung-Min Kim, Dajeong Jeong, Kyu Min Lim, Duhee Bang, and Dong Soon Lee. "Triple-Negative Myeloproliferative Neoplasms Vs. Calr, JAK2 or MPL-Mutated Myeloproliferative Neoplasms: Distinct Molecular Characteristics." Blood 132, Supplement 1 (November 29, 2018): 1772. http://dx.doi.org/10.1182/blood-2018-99-118013.
Повний текст джерелаHall, Michael J., Michelle J. McSweeny, Kim Rainey, Hannah Campbell, Chau Nguyen, and Catherine Neumann. "Risks and implications of multiple actionable pathogenic germline variants discovered by panel-based cancer predisposition testing." Journal of Clinical Oncology 41, no. 4_suppl (February 1, 2023): 792. http://dx.doi.org/10.1200/jco.2023.41.4_suppl.792.
Повний текст джерелаZhou, Rong-Fu, Zhou Na, and OuYang Jian. "Studies on the Genetic Mutations of Hereditary Fibrinogen Disorder." Blood 128, no. 22 (December 2, 2016): 4954. http://dx.doi.org/10.1182/blood.v128.22.4954.4954.
Повний текст джерелаKoenig, Patrick, Chingwei V. Lee, Benjamin T. Walters, Vasantharajan Janakiraman, Jeremy Stinson, Thomas W. Patapoff, and Germaine Fuh. "Mutational landscape of antibody variable domains reveals a switch modulating the interdomain conformational dynamics and antigen binding." Proceedings of the National Academy of Sciences 114, no. 4 (January 5, 2017): E486—E495. http://dx.doi.org/10.1073/pnas.1613231114.
Повний текст джерелаAskew, G. R., T. Doetschman, and J. B. Lingrel. "Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy." Molecular and Cellular Biology 13, no. 7 (July 1993): 4115–24. http://dx.doi.org/10.1128/mcb.13.7.4115-4124.1993.
Повний текст джерелаAskew, G. R., T. Doetschman, and J. B. Lingrel. "Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy." Molecular and Cellular Biology 13, no. 7 (July 1993): 4115–24. http://dx.doi.org/10.1128/mcb.13.7.4115.
Повний текст джерелаChang, JG, PH Chen, SS Chiou, LS Lee, LI Perng, and TC Liu. "Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites." Blood 80, no. 8 (October 15, 1992): 2092–96. http://dx.doi.org/10.1182/blood.v80.8.2092.2092.
Повний текст джерелаChang, JG, PH Chen, SS Chiou, LS Lee, LI Perng, and TC Liu. "Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites." Blood 80, no. 8 (October 15, 1992): 2092–96. http://dx.doi.org/10.1182/blood.v80.8.2092.bloodjournal8082092.
Повний текст джерелаMisawa, Kazuharu, and Fumio Tajima. "Estimation of the Amount of DNA Polymorphism When the Neutral Mutation Rate Varies Among Sites." Genetics 147, no. 4 (December 1, 1997): 1959–64. http://dx.doi.org/10.1093/genetics/147.4.1959.
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