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Artykuły w czasopismach na temat "Missense mutations"
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 źródłaRozprawy doktorskie na temat "Missense mutations"
Ibrahim, Daniel Murad. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations". Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://dx.doi.org/10.18452/17102.
Pełny tekst źródłaMutations in transcription factors (TF) do not only affect the function of the TF, but also the expression of its target genes and are frequently underlying congenital malformations. More than 20 distinct pathogenic mutations in HOXD13, a TF controlling limb development, have been associated with a broad range of limb malformations. However, a molecular basis underlying the variability of HOXD13-associated phenotypes remains elusive. To date, the experimental methods used to functionally characters TF mutations have allowed only limited insights into the underlying molecular pathomechanisms. The recently developed ChIP-seq technology has proven to be a powerful method to profile the binding characteristics of TFs; however a number of technical hurdles hinder its application for functional characterization of mutant TFs. This work describes the establishment of a ChIP-seq approach to investigate a wide spectrum of TFs and TF mutations. The approach was applied to characterize two previously unknown missense mutations in HOXD13, p.Q317K and p.R298Q, which both alter the DNA-binding domain of HOXD13 but cause very different disease phenotypes. The results show that the HOXD13Q317K mutant has an altered sequence specificity that resembles the recognition sequence of another TF, PITX1. Further, the genome-wide binding pattern of HOXD13Q317K shifts towards a more PITX1-like binding pattern. Even further analysis and viral overexpression in chicken limb buds confirm that the mutation partially converts HOXD13Q317K into a TF with PITX1-like properties. The HOXD13R298Q has a largely unchanged sequence specificity, but an altered composition of genomic binding sites. This, in combination with the human phenotype, indicates that the mutant might act in a dominant-negative manner. Collectively, this work shows through generation of direct experimental evidence, that clearly distinct molecular mechanisms underlie the pathogenicity of HOXD13Q317K and HOXD13R298Q mutations.
Zerey, Marc. "Functional analysis of human MLH1 missense mutations using Saccharomyces cerevisiae". Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=79210.
Pełny tekst źródłaMaxwell, Megan Amanda, i n/a. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis". Griffith University. School of Biomolecular and Biomedical Science, 2004. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040219.100649.
Pełny tekst źródłaMaxwell, Megan Amanda. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis". Thesis, Griffith University, 2004. http://hdl.handle.net/10072/366184.
Pełny tekst źródłaThesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Biomolecular and Biomedical Sciences
Full Text
岡田, 浩美, H. Okada, T. Yamazaki, A. Takagi, T. Murate, K. Yamamoto, J. Takamatsu i in. "In vitro characterization of missense mutations associated with quantitative protein Sdeficiency". Thesis, Schattauer, 2006. http://hdl.handle.net/2237/11695.
Pełny tekst źródła"In vitro characterization of missense mutations associated with quantitative protein Sdeficiency" Schattauer, v.4, iss.9, pp.2003-2009を、博士論文として提出したもの。
Drozdova, Tetyana. "Nephrin missense mutations altez cellular trafficking and induce endoplasmic retioulum stress". Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=106541.
Pełny tekst źródłaLa néphrine, un composant clé du diaphragme de fente, subit des modifications post-traductionnelles dans le réticulum endoplasmique (RE). Des mutations de la néphrine provoquent une protéinurie. Nous avons examiné les effets des mutations faux-sens de la néphrine sur le repliement de cette protéine dans RE, sur son trafic cellulaire et sur l'induction de réponse déplié protéines (UPR). Le type sauvage (TS) de la néphrine et les mutants d'ADNc, I171N, G270C, S366R, S724C et R743C ont été exprimés dans des cellules 293T ou cellules glomérulaires épithéliales (GECs) par une transfection transitoire. Association de néphrine avec le chaperon de RE, la calnexine, a été étudiée par la co-immunoprécipitation. Activation de l'UPR a été évaluée par l'étude de l'expression du chaperon du RE, Grp94, la phosphorylation de la sous-unité (eIF2α) du facteur 2α d'initiation de la traduction eucaryote, et l'induction de C/EBP homologue de la protéine-10 (CHOP), ainsi que l'activation du facteur-6 de la transcription (ATF6)- l'activité luciférase du gène rapporteur. Tous les mutants de la néphrine ont montré l'association accrue avec la calnexine, par rapport au TS de la néphrine. Les mutants I171N et le G270C ont augmenté l'expression du Grp94 dans les cellules 293T, ont stimulé l'ATF6-activité luciférase dans les deux cellules 293T et GECs. Néphrine S366R et S724C ont tendance à induire l'UPR, mais les changements dans le Grp94 et l'activité ATF6-luciférase ont été moins cohérents. Le mutant R743C n'a pas amélioré l'expression de Grp94, ni l'ATF6-activité luciférase. Tous les mutants de la néphrine n'ont pas augmenté ni la phosphorylation d'eIF2α, ni l'expression de CHOP. La microscopie en immunofluorescence a montré la localisation du TS néphrine à la membrane plasmique, tandis que les mutants I171N et S366R à la partie périnucléaire, colocalisés avec la calnexine. Par ailleurs, les deux mutants de néphrine ont provoqué l'agrégation du chaperon du RE, la calréticuline, par rapport au TS. Le traitement des cellules avec la castanospermine (qui réduit l'interaction de la néphrine avec la calnexine) a entraîné la localisation d'une partie des mutants I171N et S366R de la néphrine à la membrane plasmique. Ainsi, certains mutants de néphrine montrent une déficience du repliment de la protéine dans RE et activent la branche ATF6 de l'UPR. L'induction de chaperons du RE peut représenter une réponse cytoprotectrice, permettant aux cellules de résister aux lesions protéotoxique. Le blocage de l'interaction de la néphrine avec la calnexine resulte à un retour partiel au TS de certains mutants de néphrine, et donc à la localisation de néphrine à la membrane plasmique.
Ibrahim, Daniel Murad [Verfasser], Stefan [Akademischer Betreuer] Mundlos i Petra [Akademischer Betreuer] Seemann. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations / Daniel Murad Ibrahim. Gutachter: Stefan Mundlos ; Petra Seemann". Berlin : Humboldt Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://d-nb.info/1065301065/34.
Pełny tekst źródłaIbrahim, Daniel [Verfasser], Stefan [Akademischer Betreuer] Mundlos i Petra [Akademischer Betreuer] Seemann. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations / Daniel Murad Ibrahim. Gutachter: Stefan Mundlos ; Petra Seemann". Berlin : Humboldt Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://nbn-resolving.de/urn:nbn:de:kobv:11-100225655.
Pełny tekst źródłaHasselbacher, Katrin. "Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders /". Erlangen, 2008. http://opac.nebis.ch/cgi-bin/showAbstract.pl?sys=000252715.
Pełny tekst źródłaSabbagh, Yves. "Impact of disease-causing missense mutations on the structure and function of PHEX". Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=38517.
Pełny tekst źródłaKsiążki na temat "Missense mutations"
Bergmann, Carsten, i Klaus Zerres. Autosomal recessive polycystic kidney disease. Redaktor Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0313.
Pełny tekst źródłaBurghes, Arthur H. M., i Vicki L. McGovern. Spinal Muscular Atrophy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0034.
Pełny tekst źródłaCzęści książek na temat "Missense mutations"
Guziewicz, Karina E., Gustavo D. Aguirre i Barbara Zangerl. "Modeling the Structural Consequences of BEST1 Missense Mutations". W Retinal Degenerative Diseases, 611–18. Boston, MA: Springer US, 2011. http://dx.doi.org/10.1007/978-1-4614-0631-0_78.
Pełny tekst źródłaSun, Haiyang, Zhenyu Yue, Le Zhao, Junfeng Xia, Yannan Bin i Di Zhang. "Computational Prediction of Driver Missense Mutations in Melanoma". W Intelligent Computing Theories and Application, 438–47. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-95933-7_53.
Pełny tekst źródłaSahara, Naruhiko, Takami Tomiyama i Hiroshi Mori. "Rearrangement of microtubule networks by tau bearing missense mutations". W Neuroscientific Basis of Dementia, 113–20. Basel: Birkhäuser Basel, 2001. http://dx.doi.org/10.1007/978-3-0348-8225-5_13.
Pełny tekst źródłaOzturk, Kivilcim, i Hannah Carter. "Identifying Driver Interfaces Enriched for Somatic Missense Mutations in Tumors". W Methods in Molecular Biology, 51–72. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-8967-6_4.
Pełny tekst źródłaZhang, Xiyu, Ruoqing Xu, Yannan Bin i Zhenyu Yue. "Distinguishing Driver Missense Mutations from Benign Polymorphisms in Breast Cancer". W Intelligent Computing Theories and Application, 294–302. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-26969-2_28.
Pełny tekst źródłaCarter, Hannah, i Rachel Karchin. "Predicting the Functional Consequences of Somatic Missense Mutations Found in Tumors". W Gene Function Analysis, 135–59. Totowa, NJ: Humana Press, 2013. http://dx.doi.org/10.1007/978-1-62703-721-1_8.
Pełny tekst źródłaThow, Graham, i Robert J. Spreitzer. "Missense Mutations in the Chloroplast rbcL Gene That Affect Rubisco Holoenzyme Assembly". W Research in Photosynthesis, 633–36. Dordrecht: Springer Netherlands, 1992. http://dx.doi.org/10.1007/978-94-009-0383-8_137.
Pełny tekst źródłaMcLean, P. J., S. Ribich i B. T. Hyman. "Subcellular localization of α-synuclein in primary neuronal cultures: effect of missense mutations". W Advances in Research on Neurodegeneration, 53–63. Vienna: Springer Vienna, 2000. http://dx.doi.org/10.1007/978-3-7091-6284-2_5.
Pełny tekst źródłaLobo, Glenn P., Lindsey A. Ebke, Adrian Au i Stephanie A. Hagstrom. "TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR)". W Retinal Degenerative Diseases, 223–30. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17121-0_30.
Pełny tekst źródłaMéndez, Manuel, Barbara X. Granata, María J. Morán Jiménez, Victoria E. Parera, Alcira Batlle, Rafael Enríquez de Salamanca i María V. Rossetti. "Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients". W JIMD Reports, 91–97. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/8904_2011_77.
Pełny tekst źródłaStreszczenia konferencji na temat "Missense mutations"
Lei, Xue, Boshen Wang, Alan Perez-Rathke, Wei Tian, Chia-Yi Chou, Yan-Yuan Tseng i Jie Liang. "Predicting Oncogenic Missense Mutations". W 2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI). IEEE, 2019. http://dx.doi.org/10.1109/bhi.2019.8834553.
Pełny tekst źródłaMartelotto, Luciano G., Yan Zhang, Charlotte K. Y. Ng, Salvatore Piscuoglio, Jorge S. Reis-Filho i Britta Weigelt. "Abstract 4258: Benchmarking algorithms for mutation impact prediction using functionally validated missense mutations". W Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-4258.
Pełny tekst źródłaLee, Peter C. W. "Abstract 3542: Missense mutations in USE1 promote lung tumorigenesis". W Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-3542.
Pełny tekst źródłaKelemen, Linda E., James D. Brenton, David D. Bowtell i Brooke L. Fridley. "Abstract A14: TP53 missense mutations associate with different metabolic pathways". W Abstracts: AACR Special Conference: Addressing Critical Questions in Ovarian Cancer Research and Treatment; October 1-4, 2017; Pittsburgh, PA. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1557-3265.ovca17-a14.
Pełny tekst źródłaCambraia, Amanda, Mario Campos Junior, Fernanda Gubert, Juliana Ferreira Vasques, Marli Pernes da Silva Loureiro, Claudio Heitor Gress, José Mauro Bráz de Lima, Rosalia Mendez Otero i Verônica Marques Zembrzuski. "A novel mutation in the RRM2 domain of TDP-43 in a Brazilian sporadic ALS patient." W XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.486.
Pełny tekst źródłaHart, SN, T. Hoskin, H. Shimelis, B. Feng, NM Lindor, A. Monteiro, E. Iversen, DE Goldgar, V. Suman i FJ Couch. "Abstract P2-02-03: Optimized prediction of deleterious missense mutations inBRCA1andBRCA2genes". W Abstracts: 2016 San Antonio Breast Cancer Symposium; December 6-10, 2016; San Antonio, Texas. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.sabcs16-p2-02-03.
Pełny tekst źródłaAntonarakis, E. "The Molecular Genetics of Hemophilia A Stylianos". W XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643980.
Pełny tekst źródłaBasharat, Zarrin, i Azra Yasmin. "Bioinformatic analysis of human Gαq Q209 missense mutations associated with uveal melanoma". W 2016 13th International Bhurban Conference on Applied Sciences and Technology (IBCAST). IEEE, 2016. http://dx.doi.org/10.1109/ibcast.2016.7429863.
Pełny tekst źródłaNassiri, Isar, i Bahram Goliaei. "Computational analysis the influence of missense mutations upon protein structure and function". W the 1st ACM workshop. New York, New York, USA: ACM Press, 2009. http://dx.doi.org/10.1145/1531780.1531783.
Pełny tekst źródłaCyganov, M. M., M. K. Ibragimova i A. A. Hozyainova. "PREDICTIVE AND PROGNOSTIC SIGNIFICANCE OF PALB2 GENE MUTATIONS IN BREAST TUMORS". W I International Congress “The Latest Achievements of Medicine, Healthcare, and Health-Saving Technologies”. Kemerovo State University, 2023. http://dx.doi.org/10.21603/-i-ic-146.
Pełny tekst źródłaRaporty organizacyjne na temat "Missense mutations"
Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu i George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, styczeń 2015. http://dx.doi.org/10.32747/2015.7600017.bard.
Pełny tekst źródłaWeller, Joel I., Harris A. Lewin i Micha Ron. Determination of Allele Frequencies for Quantitative Trait Loci in Commercial Animal Populations. United States Department of Agriculture, luty 2005. http://dx.doi.org/10.32747/2005.7586473.bard.
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