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Artykuły w czasopismach na temat "Missense mutation"
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 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 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 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 źródłaNguyen, Thi Kim Lien, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen i Huy Hoang Nguyen. "Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome". Case Reports in Genetics 2017 (2017): 1–7. http://dx.doi.org/10.1155/2017/2357282.
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 źródłaMusumeci, Antonino, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta i in. "Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy". Biomedicines 10, nr 9 (14.09.2022): 2276. http://dx.doi.org/10.3390/biomedicines10092276.
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 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 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 źródłaRozprawy doktorskie na temat "Missense mutation"
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.
Maxwell, 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
Chen, Xuhua. "A missense mutation in Atf2 in standard poodles with fatal neonatal encephalopathy". Diss., Columbia, Mo. : University of Missouri-Columbia, 2007. http://hdl.handle.net/10355/6042.
Pełny tekst źródła"May 2007" The entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf file. Vita. Includes bibliographical references.
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 źródłaRamirez, Christina J. "BRCA genes : conserved regions and the potential effect of missense changes /". Thesis, Connect to this title online; UW restricted, 2005. http://hdl.handle.net/1773/5052.
Pełny tekst źródłaYu, Yanan. "NF1 Patient Missense Variants Predict a Role for ATM in Modifying Neurofibroma Initiation". University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1592395217393569.
Pełny tekst źródłaEssawy, Nada. "Characterization of emerin LEM-domain missense mutations present in patients with exclusive atrial cardiac defects". Electronic Thesis or Diss., Sorbonne université, 2018. http://www.theses.fr/2018SORUS299.
Pełny tekst źródłaEmery-Dreifuss Muscular Dystrophy (EDMD) is among the most widely common human genetic muscular dystrophies. The cardiac involvement in the disease is the most life-threatening symptom and the major cause of mortality. The majority of cases of its X-linked type are due to mutations in a gene encoding for the nuclear envelope protein, emerin. Despite the considerable advances that have been achieved in terms of the characterization of emerin structure, various binding partners, and functions in the human body, the picture is still rather incomplete. Fifty years now after EDMD had been first documented, researchers still fall short of understanding the pathophysiology of the disease. Thereby, it comes as no surprise that, to date, there is no described treatment of EDMD. Accordingly, this thesis is an initial attempt to characterize three emerin LEM-domain missense mutations (P22L, ΔK37, and T43I) present in patients with exclusive cardiac defects. The main objective of this thesis is to investigate the effect of the three mutations on: emerin structure, its self-assembly, and interactions with some of its well-described binding partners. The presented work highlights that albeit the localization of the three mutations in the only folded region of emerin, the variants show no global defect in their structure, except for the destabilization of the LEM-domain of the variant ΔK37. Importantly, the mutants are able to self-assemble, yet with astonishing fast polymerization kinetics. In addition, the investigations have illustrated that the three variants, despite the presence of the mutations in the BAF-binding domain, are surprisingly capable of binding BAF. The analysis did not reveal any differences in the mutants binding to Ig-fold domain of lamin A/C. Further, there is no defect in ΔK37 phosphorylation by Src kinase. Also, preliminary characterization of the ΔK37 mutation in immortalized human fibroblasts has featured no overt defects in mechanobiology, and in the expression of nuclear envelope or cytoskeletal proteins. Taken all together, the presented work outlines that the three emerin missense mutations display no defects in several prominent emerin properties, which are questioned in this thesis. On the basis of the results of the conducted research, considerable insight has been gained with regard to the consequences of the mutations of interest. In other words, the presented work lends support to following investigations in order to explore other unquestioned properties or functions of emerin that might be associated with the pathophysiology of EDMD
Kobayashi, Hiromasa. "A novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity". Kyoto University, 2004. http://hdl.handle.net/2433/148274.
Pełny tekst źródłaKsiążki na temat "Missense mutation"
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 mutation"
Arnemann, J. "Missense-Mutation". W Springer Reference Medizin, 1663. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3529.
Pełny tekst źródłaArnemann, J. "Missense-Mutation". W Lexikon der Medizinischen Laboratoriumsdiagnostik, 1. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-49054-9_3529-1.
Pełny tekst źródłaGooch, Jan W. "Missense Mutation". W Encyclopedic Dictionary of Polymers, 908. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4419-6247-8_14238.
Pełny tekst źródłaGardner, Jessica C., Tom R. Webb, Naheed Kanuga, Anthony G. Robson, Graham E. Holder, Andrew Stockman, Caterina Ripamonti i in. "A Novel Missense Mutation in Both OPN1LW and OPN1MW Cone Opsin Genes Causes X-Linked Cone Dystrophy (XLCOD5)". W Retinal Degenerative Diseases, 595–601. Boston, MA: Springer US, 2011. http://dx.doi.org/10.1007/978-1-4614-0631-0_76.
Pełny tekst źródłaSpiegel, Ronen, Devorah Soiferman, Avraham Shaag, Stavit Shalev, Orly Elpeleg i Ann Saada. "Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency". W JIMD Reports, 55–60. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/8904_2016_580.
Pełny tekst źródłaCastro-Ferreira, I., Rute Carmo, Sérgio Estrela Silva, Otília Corrêa, Susana Fernandes, Susana Sampaio, Rodrigues-Pereira Pedro, Augusta Praça i João Paulo Oliveira. "Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers". W JIMD Reports, 55–62. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2017_57.
Pełny tekst źródłaAalberts, J. J. J., A. G. Schuurman, G. Pals, B. J. C. Hamel, G. Bosman, Y. Hilhorst-Hofstee, D. Q. C. M. Barge-Schaapveld, B. J. M. Mulder, M. P. van den Berg i J. P. van Tintelen. "Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation*". W De Nederlandse gezondheidszorg, 89–94. Houten: Bohn Stafleu van Loghum, 2014. http://dx.doi.org/10.1007/978-90-368-0705-0_12.
Pełny tekst źródłaMorita, Masashi, Shun Matsumoto, Airi Sato, Kengo Inoue, Dzmitry G. Kostsin, Kozue Yamazaki, Kosuke Kawaguchi i in. "Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy". W JIMD Reports, 23–31. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_118.
Pełny tekst źródłaBrandão, Maíra Pontual, Elaine Maria Frade Costa, Maki Fukami, Mariza Gerdulo, Natalia P. Pereira, Sorahia Domenice, Tsutomu Ogata i Berenice B. Mendonca. "MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female". W Advances in Experimental Medicine and Biology, 129–31. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4419-8002-1_28.
Pełny tekst źródłaGuziewicz, 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 źródłaStreszczenia konferencji na temat "Missense mutation"
Martelotto, 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 źródłaHassan, H. J., L. Cianetti, P. M. Mannucci, V. Vicente, R. Cortese i C. Peschle. "HEREDITARY THROMBOPHILIA CAUSED BY MISSENSE MUTATION IN PROTEIN C GENE". W XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1642944.
Pełny tekst źródłaHisata, Shu, i Masahito Ebina. "A Novel Missense Mutation In Dyskeratosis Congenita With Pulmonary Disease". W American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a5419.
Pełny tekst źródłaKhan, Mudassar A., M. Q. Siddiqui, Ekaterina Kuligina i Ashok K. Varma. "Multimodal Approach to Characterize Missense Mutation Identified in h-BRCA2". W National Research Scholars' Meet 2021 - Abstracts. Thieme Medical and Scientific Publishers Pvt. Ltd., 2022. http://dx.doi.org/10.1055/s-0042-1755487.
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 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 źródłaIvaskevicius, V., A. Biswas, B. Pezeshkpoor, B. Pötzsch, A. Pavlova i J. Oldenburg. "A Novel Missense Mutation in ITGB3 Gene Causing Autosomal Dominant Glanzmann Thrombasthenia". W 63rd Annual Meeting of the Society of Thrombosis and Haemostasis Research. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1677716.
Pełny tekst źródłaMao, Yong, Han Chen, Han Liang, Funda Meric-Bernstam, Gordon Mills i Ken Chen. "Abstract 5148: CanDrA: Cancer-specific driver missense mutation annotation with optimized features." W Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-5148.
Pełny tekst źródłaZavala, B., S. Akkineni, M. Mirsaeidi i N. Nasiri. "Novel IL2RG Missense Mutation in a Patient with Recurrent Mycobacterium Avium Complex Infection". W American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a7375.
Pełny tekst źródłaKambouris, Marios, Hibah Shaath, Abeer Fadda, Yasser Al-Sarraj, Sara Tomei, Wang Ena i Hatem El-Shanti. "OFD1 Missense Mutation Causes an Autosomal Recessive Dyskeratosis Congenita-Like Disorder Further Complicating the Clinical Heterogeneity of OFD1 Mutations". W Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2016. http://dx.doi.org/10.5339/qfarc.2016.hbpp2575.
Pełny tekst źródłaRaporty organizacyjne na temat "Missense mutation"
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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