Artículos de revistas sobre el tema "SITE MUTATION"
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Ozdemir, D., P. S. Hart, O. H. Ryu, S. J. Choi, M. Ozdemir-Karatas, E. Firatli, N. Piesco y T. C. Hart. "MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta". Journal of Dental Research 84, n.º 11 (noviembre de 2005): 1031–35. http://dx.doi.org/10.1177/154405910508401112.
Texto completoBianchi, F., S. Rosati, L. Belvederesi, C. Loretelli, R. Catalani, A. Mandolesi, R. Bracci, I. Bearzi, E. Porfiri y R. Cellerino. "MSH2 splice site mutation and endometrial cancer". International Journal of Gynecologic Cancer 16, n.º 3 (2006): 1419–23. http://dx.doi.org/10.1136/ijgc-00009577-200605000-00072.
Texto completoAgosto, Melina A., Jason K. Middleton, Elaine C. Freimont, John Yin y Max L. Nibert. "Thermolabilizing Pseudoreversions in Reovirus Outer-Capsid Protein μ1 Rescue the Entry Defect Conferred by a Thermostabilizing Mutation". Journal of Virology 81, n.º 14 (16 de mayo de 2007): 7400–7409. http://dx.doi.org/10.1128/jvi.02720-06.
Texto completoBauer, C. E., J. F. Gardner, R. I. Gumport y R. A. Weisberg. "The effect of attachment site mutations on strand exchange in bacteriophage lambda site-specific recombination." Genetics 122, n.º 4 (1 de agosto de 1989): 727–36. http://dx.doi.org/10.1093/genetics/122.4.727.
Texto completoJoseph, Ranjit, Paul Little, David N. Hayes y Michael Sangmin Lee. "Characterization of the number and site of APC mutations in sporadic colorectal cancer." Journal of Clinical Oncology 35, n.º 4_suppl (1 de febrero de 2017): 630. http://dx.doi.org/10.1200/jco.2017.35.4_suppl.630.
Texto completoYamazaki, Tomio, Akira Katsumi, Yoshihiro Okamoto, Toshio Takafuta, Shinobu Tsuzuki, Kazuo Kagami, Isamu Sugiura, Tetsuhito Kojima, Kingo Fujimura y Hidehiko Saito. "Two Distinct Novel Splice Site Mutations in a Compound Heterozygous Patient with Protein S Deficiency". Thrombosis and Haemostasis 77, n.º 01 (1997): 014–20. http://dx.doi.org/10.1055/s-0038-1655729.
Texto completoChattopadhyay, Maitreyi, Vera A. Stupina, Feng Gao, Christine R. Szarko, Micki M. Kuhlmann, Xuefeng Yuan, Kerong Shi y 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, n.º 22 (9 de septiembre de 2015): 11603–18. http://dx.doi.org/10.1128/jvi.01566-15.
Texto completoWang, Zhihong, Yanhong Lin, Liping Qiu, Dezhu Zheng, Aizhen Yan, Jian Zeng y 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, n.º 9 (1 de septiembre de 2016): 1435–40. http://dx.doi.org/10.1515/cclm-2015-1042.
Texto completoCook, Jonathan, Elizabeth de Wolf y 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, n.º 8 (agosto de 2019): 191128. http://dx.doi.org/10.1098/rsos.191128.
Texto completoGuo, Wenting, Bo Sun, John Paul Estillore, Ruiwu Wang y S. R. Wayne Chen. "The central domain of cardiac ryanodine receptor governs channel activation, regulation, and stability". Journal of Biological Chemistry 295, n.º 46 (2 de septiembre de 2020): 15622–35. http://dx.doi.org/10.1074/jbc.ra120.013512.
Texto completoIto, Kiyoaki, Yanli Qin, Michael Guarnieri, Tamako Garcia, Karen Kwei, Masashi Mizokami, Jiming Zhang, Jisu Li, Jack R. Wands y 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, n.º 24 (29 de septiembre de 2010): 12850–61. http://dx.doi.org/10.1128/jvi.01499-10.
Texto completoBebenek, Anna, Geraldine T. Carver, Holly Kloos Dressman, Farid A. Kadyrov, Joseph K. Haseman, Vasiliy Petrov, William H. Konigsberg, Jim D. Karam y John W. Drake. "Dissecting the Fidelity of Bacteriophage RB69 DNA Polymerase: Site-Specific Modulation of Fidelity by Polymerase Accessory Proteins". Genetics 162, n.º 3 (1 de noviembre de 2002): 1003–18. http://dx.doi.org/10.1093/genetics/162.3.1003.
Texto completoYu, Yongfeng, Rongrong Chen, Jun Zhao, Xin Yi y Shun Lu. "Analysis of canonical and noncanonical splicing site mutation of MET that causes exon 14 skipping." Journal of Clinical Oncology 38, n.º 15_suppl (20 de mayo de 2020): e21513-e21513. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e21513.
Texto completoClaes, Kathleen, Eva Machackova, Michel De Vos, Bruce Poppe, Anne De Paepe y 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, n.º 1-3 (1999): 69–73. http://dx.doi.org/10.1155/1999/241046.
Texto completoJenkins, Gareth J. S., Morteza Hashemzadeh Chaleshtori, Honglin Song y James M. Parry. "Mutation analysis using the restriction site mutation (RSM) assay". Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 405, n.º 2 (septiembre de 1998): 209–20. http://dx.doi.org/10.1016/s0027-5107(98)00138-9.
Texto completoLin, Wen-Ying, Kang-Yang Jih y Tzyh-Chang Hwang. "A single amino acid substitution in CFTR converts ATP to an inhibitory ligand". Journal of General Physiology 144, n.º 4 (15 de septiembre de 2014): 311–20. http://dx.doi.org/10.1085/jgp.201411247.
Texto completoPuranen, T. J., M. H. Poutanen, H. E. Peltoketo, P. T. Vihko y R. K. Vihko. "Site-directed mutagenesis of the putative active site of human 17β-hydroxysteroid dehydrogenase type 1". Biochemical Journal 304, n.º 1 (15 de noviembre de 1994): 289–93. http://dx.doi.org/10.1042/bj3040289.
Texto completoNeinavaie, Fargam y Andrew Kramer. "Abstract A038: Does mutation rate of cancer cells change as the stage of the disease advances?" Cancer Research 82, n.º 10_Supplement (15 de mayo de 2022): A038. http://dx.doi.org/10.1158/1538-7445.evodyn22-a038.
Texto completoYang, Zhi, Priyatama Pandey, Darryl Shibata, David V. Conti, Paul Marjoram y Kimberly D. Siegmund. "HiLDA: a statistical approach to investigate differences in mutational signatures". PeerJ 7 (28 de agosto de 2019): e7557. http://dx.doi.org/10.7717/peerj.7557.
Texto completoKraut, Daniel A., Paul A. Sigala, Timothy D. Fenn y Daniel Herschlag. "Dissecting the paradoxical effects of hydrogen bond mutations in the ketosteroid isomerase oxyanion hole". Proceedings of the National Academy of Sciences 107, n.º 5 (11 de enero de 2010): 1960–65. http://dx.doi.org/10.1073/pnas.0911168107.
Texto completoRiedmayr, Lisa M., Sybille Böhm, Martin Biel y Elvir Becirovic. "Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site". Human Molecular Genetics 29, n.º 2 (9 de diciembre de 2019): 295–304. http://dx.doi.org/10.1093/hmg/ddz291.
Texto completoRusso, Antonio, Viviana Bazan, Barry Iacopetta, David Kerr, Thierry Soussi y 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, n.º 30 (20 de octubre de 2005): 7518–28. http://dx.doi.org/10.1200/jco.2005.00.471.
Texto completoDoward, W., R. Perveen, I. C. Lloyd, A. E. A. Ridgway, L. Wilson y G. C. M. Black. "A mutation in the RIEG1 gene associated with Peters’ anomaly". Journal of Medical Genetics 36, n.º 2 (1 de febrero de 1999): 152–55. http://dx.doi.org/10.1136/jmg.36.2.152.
Texto completoPark, S., B. Park, I. Hwang, S. Lee, E. Cho, W. Kang, J. Ahn, M. Ahn y 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, n.º 18_suppl (20 de junio de 2007): 7614. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.7614.
Texto completoJoerger, Andreas C., Hwee Ching Ang, Dmitry B. Veprintsev, Caroline M. Blair y Alan R. Fersht. "Structures of p53 Cancer Mutants and Mechanism of Rescue by Second-site Suppressor Mutations". Journal of Biological Chemistry 280, n.º 16 (9 de febrero de 2005): 16030–37. http://dx.doi.org/10.1074/jbc.m500179200.
Texto completoMoir, Robyn D., Karen V. Puglia y 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, n.º 17 (1 de septiembre de 2002): 6131–41. http://dx.doi.org/10.1128/mcb.22.17.6131-6141.2002.
Texto completoMandl, Christian W., Steven L. Allison, Heidemarie Holzmann, Tamara Meixner y 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, n.º 20 (15 de octubre de 2000): 9601–9. http://dx.doi.org/10.1128/jvi.74.20.9601-9609.2000.
Texto completoINVERNIZZI, Cédric, Jonathan IMHOF, Gabriela BURKARD, Katharina SCHMID y 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, n.º 3 (15 de septiembre de 2002): 989–98. http://dx.doi.org/10.1042/bj20020378.
Texto completoIchikawa, Shoji, Kenneth W. Lyles y 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, n.º 4 (1 de abril de 2005): 2420–23. http://dx.doi.org/10.1210/jc.2004-2302.
Texto completoRodriguez, Cesar, Joshua Tompkin, Jill Hazel y 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, n.º 20 (15 de octubre de 2002): 5599–608. http://dx.doi.org/10.1128/jb.184.20.5599-5608.2002.
Texto completoElliott, Steve, Tony Lorenzini, David Chang, Jack Barzilay y Evelyne Delorme. "Mapping of the Active Site of Recombinant Human Erythropoietin". Blood 89, n.º 2 (15 de enero de 1997): 493–502. http://dx.doi.org/10.1182/blood.v89.2.493.
Texto completoVan Kuilenburg, André B. P., Rutger Meinsma, Eva Beke, Barbara Bobba, Patrizia Boffi, Gregory M. Enns, David R. Witt y Doreen Dobritzsch. "Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function". Biological Chemistry 386, n.º 4 (1 de abril de 2005): 319–24. http://dx.doi.org/10.1515/bc.2005.038.
Texto completoTurner, 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, n.º 6 (1 de junio de 2002): 2688–93. http://dx.doi.org/10.1210/jcem.87.6.8607.
Texto completoAmano, Eiichiro, Tomokatsu Yoshida, Ikuko Mizuta, Jun Oyama, Shingo Sakashita, Syunsuke Ueyama, Akira Machida y Takanori Yokota. "Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease". Neurology Genetics 7, n.º 6 (1 de octubre de 2021): e626. http://dx.doi.org/10.1212/nxg.0000000000000626.
Texto completoMartyn, Gabriella E., Beeke Wienert, Ryo Kurita, Yukio Nakamura, Kate G. R. Quinlan y Merlin Crossley. "A natural regulatory mutation in the proximal promoter elevates fetal globin expression by creating a de novo GATA1 site". Blood 133, n.º 8 (21 de febrero de 2019): 852–56. http://dx.doi.org/10.1182/blood-2018-07-863951.
Texto completoVora, Hemangini H., Shalvi V. Mehta, Shilin N. Shukla y 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, n.º 1 (enero de 2010): 46–51. http://dx.doi.org/10.1177/172460081002500107.
Texto completoMorris, Van Karlyle, Michael J. Overman, Cathy Eng, Eduardo Vilar Sanchez, Maria Morelli, Zhiqin Jiang, Rajyalakshmi Luthra, Dipen M. Maru, Funda Meric-Bernstam y Scott Kopetz. "Clinicopathologic features of KRAS-mutated colorectal tumors vary by site of mutation." Journal of Clinical Oncology 31, n.º 15_suppl (20 de mayo de 2013): 3632. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.3632.
Texto completoDavis, Brad H., Art F. Y. Poon y Michael C. Whitlock. "Compensatory mutations are repeatable and clustered within proteins". Proceedings of the Royal Society B: Biological Sciences 276, n.º 1663 (25 de febrero de 2009): 1823–27. http://dx.doi.org/10.1098/rspb.2008.1846.
Texto completoRamadhan, Dwi Syah Fitra y 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, n.º 4 (31 de diciembre de 2020): 491–96. http://dx.doi.org/10.25026/jsk.v2i4.257.
Texto completoFreije, José M. P., Pilar Blay, Nicholas J. MacDonald, Richard E. Manrow y Patricia S. Steeg. "Site-directed Mutation of Nm23-H1". Journal of Biological Chemistry 272, n.º 9 (28 de febrero de 1997): 5525–32. http://dx.doi.org/10.1074/jbc.272.9.5525.
Texto completoTAKAGI, Hitoshi y Masatomo MORI. "New Mutation Site of Cholinesterase Gene". Internal Medicine 36, n.º 1 (1997): 1–2. http://dx.doi.org/10.2169/internalmedicine.36.1.
Texto completoYun, Jiwon, Jung-Ah Kim, Byungjin Hwang, Hee Sue Park, Kyongok Im, Sung-Min Kim, Dajeong Jeong, Kyu Min Lim, Duhee Bang y Dong Soon Lee. "Triple-Negative Myeloproliferative Neoplasms Vs. Calr, JAK2 or MPL-Mutated Myeloproliferative Neoplasms: Distinct Molecular Characteristics". Blood 132, Supplement 1 (29 de noviembre de 2018): 1772. http://dx.doi.org/10.1182/blood-2018-99-118013.
Texto completoHall, Michael J., Michelle J. McSweeny, Kim Rainey, Hannah Campbell, Chau Nguyen y Catherine Neumann. "Risks and implications of multiple actionable pathogenic germline variants discovered by panel-based cancer predisposition testing." Journal of Clinical Oncology 41, n.º 4_suppl (1 de febrero de 2023): 792. http://dx.doi.org/10.1200/jco.2023.41.4_suppl.792.
Texto completoZhou, Rong-Fu, Zhou Na y OuYang Jian. "Studies on the Genetic Mutations of Hereditary Fibrinogen Disorder". Blood 128, n.º 22 (2 de diciembre de 2016): 4954. http://dx.doi.org/10.1182/blood.v128.22.4954.4954.
Texto completoKoenig, Patrick, Chingwei V. Lee, Benjamin T. Walters, Vasantharajan Janakiraman, Jeremy Stinson, Thomas W. Patapoff y 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, n.º 4 (5 de enero de 2017): E486—E495. http://dx.doi.org/10.1073/pnas.1613231114.
Texto completoAskew, G. R., T. Doetschman y J. B. Lingrel. "Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy". Molecular and Cellular Biology 13, n.º 7 (julio de 1993): 4115–24. http://dx.doi.org/10.1128/mcb.13.7.4115-4124.1993.
Texto completoAskew, G. R., T. Doetschman y J. B. Lingrel. "Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy." Molecular and Cellular Biology 13, n.º 7 (julio de 1993): 4115–24. http://dx.doi.org/10.1128/mcb.13.7.4115.
Texto completoChang, JG, PH Chen, SS Chiou, LS Lee, LI Perng y TC Liu. "Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites". Blood 80, n.º 8 (15 de octubre de 1992): 2092–96. http://dx.doi.org/10.1182/blood.v80.8.2092.2092.
Texto completoChang, JG, PH Chen, SS Chiou, LS Lee, LI Perng y TC Liu. "Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites". Blood 80, n.º 8 (15 de octubre de 1992): 2092–96. http://dx.doi.org/10.1182/blood.v80.8.2092.bloodjournal8082092.
Texto completoMisawa, Kazuharu y Fumio Tajima. "Estimation of the Amount of DNA Polymorphism When the Neutral Mutation Rate Varies Among Sites". Genetics 147, n.º 4 (1 de diciembre de 1997): 1959–64. http://dx.doi.org/10.1093/genetics/147.4.1959.
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