Artykuły w czasopismach na temat „Missense mutations”
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Captur, Gabriella, Eloisa Arbustini, Petros Syrris, Dina Radenkovic, Ben O'Brien, William J. Mckenna i James C. Moon. "Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature". Open Heart 5, nr 2 (październik 2018): e000915. http://dx.doi.org/10.1136/openhrt-2018-000915.
Pełny tekst źródłaCaspi, Michal, Frédéric M. Coquelle, Cynthia Koifman, Talia Levy, Hiroyuki Arai, Junken Aoki, Jan R. De Mey i Orly Reiner. "LIS1 Missense Mutations". Journal of Biological Chemistry 278, nr 40 (28.07.2003): 38740–48. http://dx.doi.org/10.1074/jbc.m301147200.
Pełny tekst źródłaProphet, Malshundria, Kun Xiao, Theodore Stewart Gourdin, Rebecca J. Nagy, Lesli Ann Kiedrowski, Elisa Ledet, Guru Sonpavde, A. Oliver Sartor i Michael B. Lilly. "Detection of actionable BRAF missense mutations by ctDNA-based genomic analysis in prostate cancer." Journal of Clinical Oncology 36, nr 6_suppl (20.02.2018): 306. http://dx.doi.org/10.1200/jco.2018.36.6_suppl.306.
Pełny tekst źródłaZhang, Edward D., Meixia Zhang, Gen Li, Charlotte L. Zhang, Zhihuan Li, Guangxi Zang, Zhiguang Su i in. "Mutation spectrum in GNAQ and GNA11 in Chinese uveal melanoma". Precision Clinical Medicine 2, nr 4 (13.11.2019): 213–20. http://dx.doi.org/10.1093/pcmedi/pbz021.
Pełny tekst źródłaKim, Soo-Hyun, Soo Young Choi, Sung-Eun Lee, Yun Jeong Oh, Jin-Eok Park, Hae Lyun Yoo, Hye-Rim Jeon, Eun-Jung Jang i Dong-Wook Kim. "Kinetics Of Low-Level Mutant Clones Detected By Subcloning and Sequencing In Tyrosine Kinase Inhibitor Resistant CML". Blood 122, nr 21 (15.11.2013): 2720. http://dx.doi.org/10.1182/blood.v122.21.2720.2720.
Pełny tekst źródłaBoettcher, Steffen, Peter G. Miller, Rohan Sharma, Marie McConkey, Matthew Leventhal, Andrei V. Krivtsov, Andrew O. Giacomelli i in. "A dominant-negative effect drives selection of TP53 missense mutations in myeloid malignancies". Science 365, nr 6453 (8.08.2019): 599–604. http://dx.doi.org/10.1126/science.aax3649.
Pełny tekst źródłaShih, Lee-Yung, Der-Cherng Liang, Chein-Fuang Huang, Ming-Chung Kuo, Tung-Liang Lin, Jen-Fen Fu, Yu-Shu Shih i in. "Different Patterns of AML1 Mutations between De Novo Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia." Blood 110, nr 11 (16.11.2007): 2442. http://dx.doi.org/10.1182/blood.v110.11.2442.2442.
Pełny tekst źródłaZabransky, Daniel J., Christopher L. Yankaskas, Rory L. Cochran, Hong Yuen Wong, Sarah Croessmann, David Chu, Shyam M. Kavuri i in. "HER2 missense mutations have distinct effects on oncogenic signaling and migration". Proceedings of the National Academy of Sciences 112, nr 45 (27.10.2015): E6205—E6214. http://dx.doi.org/10.1073/pnas.1516853112.
Pełny tekst źródłaZhang, Zhe, Maria A. Miteva, Lin Wang i Emil Alexov. "Analyzing Effects of Naturally Occurring Missense Mutations". Computational and Mathematical Methods in Medicine 2012 (2012): 1–15. http://dx.doi.org/10.1155/2012/805827.
Pełny tekst źródłaVierimaa, O., T. M. L. Ebeling, S. Kytölä, R. Bloigu, E. Eloranta, J. Salmi, E. Korpi-Hyövälti i in. "Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype–phenotype correlation". European Journal of Endocrinology 157, nr 3 (wrzesień 2007): 285–94. http://dx.doi.org/10.1530/eje-07-0195.
Pełny tekst źródłaPavlova, Anna, Thilo Albert, Michael Caspers, Johannes Oldenburg i Rainer Schwaab. "Significance of F8 missense mutations with respect to inhibitor formation". Thrombosis and Haemostasis 109, nr 03 (2013): 464–70. http://dx.doi.org/10.1160/th12-07-0521.
Pełny tekst źródłaIvaskevicius, Vytautas, Arijit Biswas, Anne Thomas, Ramin Tehranchi i Johannes Oldenburg. "Genetic Background in Patients with Severe Factor XIII A-Subunit Deficiency Treated with Recombinant FXIII". Blood 120, nr 21 (16.11.2012): 1125. http://dx.doi.org/10.1182/blood.v120.21.1125.1125.
Pełny tekst źródłaGábos, Gabriella, Dumitru Moldovan, Daniela Dobru, Enikő Mihály, Noémi Bara, Valentin Nădășan, Adina Hutanu i Katalin Csép. "Mutational spectrum and genotype-phenotype relationships in a cohort of Romanian hereditary angioedema patients caused by C1 inhibitor deficiency". Revista Romana de Medicina de Laborator 27, nr 3 (1.07.2019): 255–67. http://dx.doi.org/10.2478/rrlm-2019-0029.
Pełny tekst źródłaIacobuzio-Donahue, Christine A., Jason Song, Giovanni Parmiagiani, Charles J. Yeo, Ralph H. Hruban i Scott E. Kern. "Missense Mutations of MADH4". Clinical Cancer Research 10, nr 5 (1.03.2004): 1597–604. http://dx.doi.org/10.1158/1078-0432.ccr-1121-3.
Pełny tekst źródłaDavies, Faith C. J., Jilly E. Hope, Fiona McLachlan, Grant F. Marshall, Laura Kaminioti-Dumont, Vesa Qarkaxhija, Francis Nunez i in. "Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function". Human Molecular Genetics 29, nr 10 (11.03.2020): 1592–606. http://dx.doi.org/10.1093/hmg/ddaa042.
Pełny tekst źródłaLeventer, Richard J., Carlos Cardoso, David H. Ledbetter i William B. Dobyns. "LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ". Neurology 57, nr 3 (14.08.2001): 416–22. http://dx.doi.org/10.1212/wnl.57.3.416.
Pełny tekst źródłaAbuzenadah, Adel, Ashley Cartwright, Nawal Al-Shammari, Rachael Coyle, Michaela Eckert, Ahlam Al-Buhairan, Sarah Messenger i in. "Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort". Thrombosis and Haemostasis 110, nr 08 (2013): 264–74. http://dx.doi.org/10.1160/th13-02-0135.
Pełny tekst źródłaCron, Randy Q., Mingce Zhang, Remy R. Cron, Devin Absher, John M. Bridges, Amanda Schnell, Pavan K. Bhatraju i in. "DOCK8 mutations in COVID-19 and MIS-C Cytokine Storm Syndrome". Journal of Immunology 206, nr 1_Supplement (1.05.2021): 62.04. http://dx.doi.org/10.4049/jimmunol.206.supp.62.04.
Pełny tekst źródłaDai, Letian, John Clarke, Paula Bolton-Maggs, Geoffrey Savidge, Anwar Alhaq i Michael Mitchell. "Characterisation of five factor XI mutations". Thrombosis and Haemostasis 97, nr 06 (2007): 884–89. http://dx.doi.org/10.1160/th06-12-0704.
Pełny tekst źródłaMustafa, S., I. Pabinger i C. Mannhalter. "Protein S deficiency type I: identification of point mutations in 9 of 10 families". Blood 86, nr 9 (1.11.1995): 3444–51. http://dx.doi.org/10.1182/blood.v86.9.3444.bloodjournal8693444.
Pełny tekst źródłaGong, Wen-yu, Fan-na Liu, Liang-hong Yin i Jun Zhang. "Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review". BioMed Research International 2021 (2.03.2021): 1–10. http://dx.doi.org/10.1155/2021/6664973.
Pełny tekst źródłaUyanik, G., N. Elcioglu, J. Penzien, C. Gross, Y. Yilmaz, A. Olmez, E. Demir i in. "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome". Neurology 66, nr 7 (10.04.2006): 1044–48. http://dx.doi.org/10.1212/01.wnl.0000204181.31175.8b.
Pełny tekst źródłaGuo, Zhiping, Linhua Yang, Xiuyu Qin, Xiue Liu i Yaofang Zhang. "Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations". Clinical and Applied Thrombosis/Hemostasis 24, nr 1 (5.01.2017): 70–78. http://dx.doi.org/10.1177/1076029616687848.
Pełny tekst źródłaPhillips, John D., Tiffany L. Parker, Heidi L. Schubert, Frank G. Whitby, Christopher P. Hill i James P. Kushner. "Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase". Blood 98, nr 12 (1.12.2001): 3179–85. http://dx.doi.org/10.1182/blood.v98.12.3179.
Pełny tekst źródłaSUCULARLI, CEREN. "Evaluation of cancer related missense mutations in CENPH". Acta Medica 50, nr 4 (30.10.2019): 42–47. http://dx.doi.org/10.32552/2019.actamedica.385.
Pełny tekst źródłaKapoor, Ritika R., Sarah E. Flanagan, Piers Fulton, Anupam Chakrapani, Bernadette Chadefaux, Tawfeg Ben-Omran, Indraneel Banerjee, Julian P. Shield, Sian Ellard i Khalid Hussain. "Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations". European Journal of Endocrinology 161, nr 5 (listopad 2009): 731–35. http://dx.doi.org/10.1530/eje-09-0615.
Pełny tekst źródłaTalsness, Dana M., Joseph J. Belanto i James M. Ervasti. "Disease-proportional proteasomal degradation of missense dystrophins". Proceedings of the National Academy of Sciences 112, nr 40 (21.09.2015): 12414–19. http://dx.doi.org/10.1073/pnas.1508755112.
Pełny tekst źródłaScore, Joannah, Claire Hidalgo-Curtis, Amy V. Jones, Nils Winkelmann, Alison Skinner, Daniel Ward, Katerina Zoi i in. "Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms". Blood 119, nr 5 (2.02.2012): 1208–13. http://dx.doi.org/10.1182/blood-2011-07-367243.
Pełny tekst źródłaChen, Yuting, Haoyu Lu, Ning Zhang, Zefeng Zhu, Shuqin Wang i Minghui Li. "PremPS: Predicting the impact of missense mutations on protein stability". PLOS Computational Biology 16, nr 12 (30.12.2020): e1008543. http://dx.doi.org/10.1371/journal.pcbi.1008543.
Pełny tekst źródłaYang, Lihong, Yingyu Wang, Jianpin Zhou, Xiaoli Cheng, Xiuping Hao, Haixiao Xie, Yanhui Jin i Mingshan Wang. "Identification of Genetic Defects Underlying FXII Deficiency in Four Unrelated Chinese Patients". Acta Haematologica 135, nr 4 (2016): 238–40. http://dx.doi.org/10.1159/000444209.
Pełny tekst źródłaGąsior-Perczak, Danuta, Artur Kowalik, Krzysztof Gruszczyński, Agnieszka Walczyk, Monika Siołek, Iwona Pałyga, Sławomir Trepka i in. "Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma". Cancers 13, nr 3 (26.01.2021): 470. http://dx.doi.org/10.3390/cancers13030470.
Pełny tekst źródłaMitchell, Michael J., Letian Dai, John B. Clarke, Anwar Alhaq i Geoffrey F. Savidge. "Characterisation of 6 Factor XI Missense Mutations." Blood 106, nr 11 (16.11.2005): 1787. http://dx.doi.org/10.1182/blood.v106.11.1787.1787.
Pełny tekst źródłaOgata, Kyoichi, i Steven W. Pipe. "Most Factor VIII B Domain Missense Mutations Are Unlikely to Be Causative Mutations for Hemophilia A: Implications for Factor VIII Genetic Analysis". Blood 112, nr 11 (16.11.2008): 513. http://dx.doi.org/10.1182/blood.v112.11.513.513.
Pełny tekst źródłaSun, Chong, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang i in. "Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes". Neurology Genetics 5, nr 2 (kwiecień 2019): e565. http://dx.doi.org/10.1212/nxg.0000000000000316.
Pełny tekst źródłaÖZDEMİR, Mustafa, Şerif HAMİTOĞLU, Ferda ÖZLÜ, Hacer YAPICIOĞLU, Gülen GÜL MERT i Mehmet SATAR. "The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome". Cukurova Medical Journal 47, nr 4 (28.12.2022): 1780–83. http://dx.doi.org/10.17826/cumj.1170135.
Pełny tekst źródłaHuang, Chein-Fuang, Lee-Yung Shih, Der-Cherng Liang, Sung-Tzu Liang, Jen-Fen Fu, Yu-Shu Shih, Chia-Ling Chang, Jo-Chuan Liu, Wen-Hsin Hsu i Chang-Liang Lai. "High Frequency of C-Terminal Frame-Shift Mutations of RUNX1 Gene in De Novo AML with Partial Tandem Duplication of MLL." Blood 114, nr 22 (20.11.2009): 3468. http://dx.doi.org/10.1182/blood.v114.22.3468.3468.
Pełny tekst źródłaYuille, Martin R., Alison Condie, Chantelle D. Hudson, Paul S. Bradshaw, Elaine M. Stone, Estella Matutes, Daniel Catovsky i Richard S. Houlston. "ATM mutations are rare in familial chronic lymphocytic leukemia". Blood 100, nr 2 (15.07.2002): 603–9. http://dx.doi.org/10.1182/blood.v100.2.603.
Pełny tekst źródłaNeale, B. M. "Making Sense of Missense Mutations". Science Translational Medicine 5, nr 179 (3.04.2013): 179ec57. http://dx.doi.org/10.1126/scitranslmed.3006205.
Pełny tekst źródłaCorso, Giovanni, Irene Feroce, Mattia Intra, Antonio Toesca, Francesca Magnoni, Manuela Sargenti, Paola Naninato i in. "BRCA1/2 germline missense mutations". European Journal of Cancer Prevention 27, nr 3 (maj 2018): 279–86. http://dx.doi.org/10.1097/cej.0000000000000337.
Pełny tekst źródłaOzdemir, D., P. S. Hart, O. H. Ryu, S. J. Choi, M. Ozdemir-Karatas, E. Firatli, N. Piesco i T. C. Hart. "MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta". Journal of Dental Research 84, nr 11 (listopad 2005): 1031–35. http://dx.doi.org/10.1177/154405910508401112.
Pełny tekst źródłaHagiwara, Takeshi, Hiroshi Inaba, Shinichi Yoshida, Keiko Nagaizumi, Morio Arai, Hideji Hanabusa i Katsuyuki Fukutake. "A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease". Thrombosis and Haemostasis 76, nr 02 (1996): 253–57. http://dx.doi.org/10.1055/s-0038-1650564.
Pełny tekst źródłaGao, Shujuan, Min Lin, Yan Jin, Zhuona Wang, Yunqing Zhu, Guisheng Liu i Xueyan Guo. "Three Novel Mutations of APC Gene Found in A Chinese Family with Familial Adenomatous Polyposis". Journal of Clinical and Nursing Research 6, nr 3 (30.05.2022): 174–80. http://dx.doi.org/10.26689/jcnr.v6i3.3893.
Pełny tekst źródłaTankovic, Jacques, Dominique Lamarque, Jean-Charles Delchier, Claude-James Soussy, Agnes Labigne i Peter J. Jenks. "Frequent Association between Alteration of therdxA Gene and Metronidazole Resistance in French and North African Isolates of Helicobacter pylori". Antimicrobial Agents and Chemotherapy 44, nr 3 (1.03.2000): 608–13. http://dx.doi.org/10.1128/aac.44.3.608-613.2000.
Pełny tekst źródłaLee, Jiyun, Hana Kim, Antonio Gualberto, Catherine Rose Scholz i Se Hoon Park. "Tipifarnib, a farnesyltransferase inhibitor, for metastatic urothelial carcinoma harboring HRAS mutations." Journal of Clinical Oncology 38, nr 15_suppl (20.05.2020): 5086. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.5086.
Pełny tekst źródłaPark, Edward, Leiqian Tai, Peggy Nakagawa, Loan Hsieh i Diane J. Nugent. "Novel Missense Mutations Associated with FXIII Deficiency and Bleeding." Blood 114, nr 22 (20.11.2009): 4201. http://dx.doi.org/10.1182/blood.v114.22.4201.4201.
Pełny tekst źródłaYadegari, Hamideh, Julia Driesen, Anna Pavlova, Arijit Biswas, Hans-Jörg Hertfelder i Johannes Oldenburg. "Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients". Thrombosis and Haemostasis 108, nr 10 (2012): 662–71. http://dx.doi.org/10.1160/th12-02-0089.
Pełny tekst źródłaClark, Graeme R., Marco Sciacovelli, Edoardo Gaude, Diana M. Walsh, Gail Kirby, Michael A. Simpson, Richard C. Trembath i in. "Germline FH Mutations Presenting With Pheochromocytoma". Journal of Clinical Endocrinology & Metabolism 99, nr 10 (1.10.2014): E2046—E2050. http://dx.doi.org/10.1210/jc.2014-1659.
Pełny tekst źródłaLee, Yejin, Hong Zhang, Figen Seymen, Youn Jung Kim, Yelda Kasimoglu, Mine Koruyucu, James P. Simmer, Jan C. C. Hu i Jung-Wook Kim. "Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta". Journal of Personalized Medicine 12, nr 2 (24.01.2022): 150. http://dx.doi.org/10.3390/jpm12020150.
Pełny tekst źródłaJeyaprakash, A., R. Das Gupta i R. Kolodner. "Saccharomyces cerevisiae pms2 mutations are alleles of MLH1, and pms2-2 corresponds to a hereditary nonpolyposis colorectal carcinoma-causing missense mutation." Molecular and Cellular Biology 16, nr 6 (czerwiec 1996): 3008–11. http://dx.doi.org/10.1128/mcb.16.6.3008.
Pełny tekst źródłaGale, Rosemary E., Katarina Lamb, Christopher Allen, Dima El-Sharkawi, Cassandra Stowe, Sarah Jenkinson, Steven Tinsley i in. "The Impact of Different DNMT3A Mutations on Outcome in Younger Adults with Acute Myeloid Leukemia". Blood 124, nr 21 (6.12.2014): 67. http://dx.doi.org/10.1182/blood.v124.21.67.67.
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