Artículos de revistas sobre el tema "R275W"
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Wang, C., R. Lu, X. Ouyang, M. W. L. Ho, W. Chia, F. Yu y K. L. Lim. "Drosophila Overexpressing Parkin R275W Mutant Exhibits Dopaminergic Neuron Degeneration and Mitochondrial Abnormalities". Journal of Neuroscience 27, n.º 32 (8 de agosto de 2007): 8563–70. http://dx.doi.org/10.1523/jneurosci.0218-07.2007.
Texto completoCarr, Jonathan, Ilaria Guella, Chelsea Szu-Tu, Sihaam Boolay, Brigitte Glanzmann, Matthew J. Farrer y Soraya Bardien. "Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease". Movement Disorders 31, n.º 3 (10 de febrero de 2016): 423–25. http://dx.doi.org/10.1002/mds.26524.
Texto completoRuffmann, Claudio, Michela Zini, Stefano Goldwurm, Manuela Bramerio, Sonia Spinello, Damiana Rusconi, Marcello Gambacorta, Fabrizio Tagliavini, Gianni Pezzoli y Giorgio Giaccone. "Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2)". Acta Neuropathologica 123, n.º 6 (4 de mayo de 2012): 901–3. http://dx.doi.org/10.1007/s00401-012-0991-7.
Texto completoNovak, Gabriela, Steven Finkbeiner, Gaia Skibinski, Michela Bernini, Cristina Donato y Alexander Skupin. "Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson’s disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004)". Stem Cell Research 61 (mayo de 2022): 102765. http://dx.doi.org/10.1016/j.scr.2022.102765.
Texto completoJennings, Juliet E., Marianthi Georgitsi, Ian Holdaway, Adrian F. Daly, Maria Tichomirowa, Albert Beckers, Lauri A. Aaltonen, Auli Karhu y Fergus J. Cameron. "Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene". European Journal of Endocrinology 161, n.º 5 (noviembre de 2009): 799–804. http://dx.doi.org/10.1530/eje-09-0406.
Texto completoAllen, Simon, Adel M. Abuzenadah, Joanna Hinks, Joanna L. Blagg, Turkiz Gursel, Jørgen Ingerslev, Anne C. Goodeve, Ian R. Peake y Martina E. Daly. "A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion". Blood 96, n.º 2 (15 de julio de 2000): 560–68. http://dx.doi.org/10.1182/blood.v96.2.560.
Texto completoAllen, Simon, Adel M. Abuzenadah, Joanna Hinks, Joanna L. Blagg, Turkiz Gursel, Jørgen Ingerslev, Anne C. Goodeve, Ian R. Peake y Martina E. Daly. "A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion". Blood 96, n.º 2 (15 de julio de 2000): 560–68. http://dx.doi.org/10.1182/blood.v96.2.560.014k01_560_568.
Texto completoTan, Manuela M. X., Naveed Malek, Michael A. Lawton, Leon Hubbard, Alan M. Pittman, Theresita Joseph, Jason Hehir et al. "Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study". Brain 142, n.º 9 (19 de julio de 2019): 2828–44. http://dx.doi.org/10.1093/brain/awz191.
Texto completoMoreau, Adrien, Pascal Gosselin-Badaroudine, Lucie Delemotte, Michael L. Klein y Mohamed Chahine. "Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy". Journal of General Physiology 145, n.º 2 (26 de enero de 2015): 93–106. http://dx.doi.org/10.1085/jgp.201411304.
Texto completoAndolfo, Immacolata, Roberta Russo, Francesco Manna, Marica Lisa Salve, Alok K. Sharma, Seth L. Alper, Lucia De Franceschi y Achille Iolascon. "Detection of Familial Pseudohyperkalemia Among Italian Blood Donors By Genetic Screening for the R276W Mutation in ABCB6". Blood 126, n.º 23 (3 de diciembre de 2015): 2132. http://dx.doi.org/10.1182/blood.v126.23.2132.2132.
Texto completoAsa, Anie Day D. C., Rujira Wanotayan, Mukesh Kumar Sharma, Kaima Tsukada, Mikio Shimada y Yoshihisa Matsumoto. "Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity". Journal of Radiation Research 62, n.º 3 (12 de abril de 2021): 380–89. http://dx.doi.org/10.1093/jrr/rrab016.
Texto completoAarskog, D., H. G. Eiken, R. Bjerknes y O. L. Myking. "Pituitary dwarfism in the R271W Pit-1 gene mutation". European Journal of Pediatrics 156, n.º 11 (octubre de 1997): 829–34. http://dx.doi.org/10.1007/s004310050722.
Texto completoStrege, Peter R., Amelia Mazzone, Cheryl E. Bernard, Leila Neshatian, Simon J. Gibbons, Yuri A. Saito, David J. Tester et al. "Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity". American Journal of Physiology-Gastrointestinal and Liver Physiology 314, n.º 4 (1 de abril de 2018): G494—G503. http://dx.doi.org/10.1152/ajpgi.00016.2017.
Texto completoMORIZONO, Hiroki, Mendel TUCHMAN, Basavapatna S. RAJAGOPAL, Mark T. McCANN, Chad D. LISTROM, Xiaoling YUAN, Divakaramenon VENUGOPAL, George BARANY y Norma M. ALLEWELL. "Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces ‘late onset’ hyperammonaemia". Biochemical Journal 322, n.º 2 (1 de marzo de 1997): 625–31. http://dx.doi.org/10.1042/bj3220625.
Texto completoDiOrio, J. P., M. W. Mosesson, K. R. Siebenlist, J. D. Olson, J. F. Hainfeld y J. S. Wall. "The Basis for Fibrinogen Cedar Rapids (γ R275C) Fibrin Network Structure". Proceedings, annual meeting, Electron Microscopy Society of America 54 (11 de agosto de 1996): 928–29. http://dx.doi.org/10.1017/s042482010016710x.
Texto completoMasi, Alessandra di, Mara Viganotti, Fabio Polticelli, Paolo Ascenzi, Caterina Tanzarella y Antonio Antoccia. "The R215W mutation in NBS1 impairs γ-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients". Biochemical and Biophysical Research Communications 369, n.º 3 (mayo de 2008): 835–40. http://dx.doi.org/10.1016/j.bbrc.2008.02.129.
Texto completoMaleva Kostovska, I., M. Jakimovska, K. Kubelka-Sabit, M. Karadjozov, A. Arsovski, L. Stojanovska y Dijana Plaseska-Karanfilska. "Clinical Relevance of CHEK2 And NBN Mutations in the Macedonian Population". Balkan Journal of Medical Genetics 18, n.º 1 (1 de junio de 2015): 47–54. http://dx.doi.org/10.1515/bjmg-2015-0005.
Texto completoYorgan, Timur Alexander, Tim Rolvien, Julian Stürznickel, Nele Vollersen, Fabiola Lange, Anke Baranowsky, Irm Hermans-Borgmeyer et al. "Mice carrying a ubiquitous R235W mutation of Wnt1 display a bone-specific phenotype". Bone Reports 13 (octubre de 2020): 100645. http://dx.doi.org/10.1016/j.bonr.2020.100645.
Texto completoYorgan, Timur Alexander, Tim Rolvien, Julian Stürznickel, Nele Vollersen, Fabiola Lange, Wenbo Zhao, Anke Baranowsky et al. "Mice Carrying a Ubiquitous R235W Mutation of Wnt1 Display a Bone‐Specific Phenotype". Journal of Bone and Mineral Research 35, n.º 9 (20 de mayo de 2020): 1726–37. http://dx.doi.org/10.1002/jbmr.4043.
Texto completoHeneghan, John F., Arash Akhavein, Maria J. Salas, Boris E. Shmukler, Lawrence P. Karniski, David H. Vandorpe y Seth L. Alper. "Regulated transport of sulfate and oxalate by SLC26A2/DTDST". American Journal of Physiology-Cell Physiology 298, n.º 6 (junio de 2010): C1363—C1375. http://dx.doi.org/10.1152/ajpcell.00004.2010.
Texto completoWard, Tarsha, Warren Tai, Sarah Morton, Francis Impens, Petra Van Damme, Delphi Van Haver, Evy Timmerman et al. "Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency". Circulation Research 128, n.º 8 (16 de abril de 2021): 1156–69. http://dx.doi.org/10.1161/circresaha.120.316966.
Texto completoBallhausen, D. "Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W". Journal of Medical Genetics 40, n.º 1 (1 de enero de 2003): 65–71. http://dx.doi.org/10.1136/jmg.40.1.65.
Texto completoVreken, P., A. B. P. Van Kuilenburg, R. Meinsma y A. H. van Gennip. "Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W". Human Genetics 101, n.º 3 (11 de diciembre de 1997): 333–38. http://dx.doi.org/10.1007/s004390050637.
Texto completoAhmad, I., S. M. Austin, B. B. Back, R. R. Betts, F. P. Calaprice, K. C. Chan, A. A. Chishti et al. "Internal pair conversion in heavy nuclei". Physical Review C 55, n.º 6 (1 de junio de 1997): R2755—R2759. http://dx.doi.org/10.1103/physrevc.55.r2755.
Texto completoBurkardt, Matthias. "Light-cone momentum distribution of heavy quarks". Physical Review D 46, n.º 7 (1 de octubre de 1992): R2751—R2755. http://dx.doi.org/10.1103/physrevd.46.r2751.
Texto completoBernard, Véronique, Norbert Kaiser, Joachim Kambor y Ulf-G. Meissner. "Hyperon polarizabilities". Physical Review D 46, n.º 7 (1 de octubre de 1992): R2756—R2758. http://dx.doi.org/10.1103/physrevd.46.r2756.
Texto completoCvetič, Mirjam y Paul Langacker. "Neutrino masses within the minimal supersymmetric standard model". Physical Review D 46, n.º 7 (1 de octubre de 1992): R2759—R2763. http://dx.doi.org/10.1103/physrevd.46.r2759.
Texto completoBernard, Véronique, Norbert Kaiser y Ulf-G. Meissner. "Threshold parameters ofπKscattering in QCD". Physical Review D 43, n.º 9 (1 de mayo de 1991): R2757—R2760. http://dx.doi.org/10.1103/physrevd.43.r2757.
Texto completoKassner, K., C. Misbah y R. Baumann. "Eutectic dynamics: A host of new states". Physical Review E 51, n.º 4 (1 de abril de 1995): R2751—R2754. http://dx.doi.org/10.1103/physreve.51.r2751.
Texto completoLontano, Maurizio y Fabio Raimondi. "Stopping power of nonmonochromatic heavy-ion clusters with two-ion correlation effects". Physical Review E 51, n.º 4 (1 de abril de 1995): R2755—R2758. http://dx.doi.org/10.1103/physreve.51.r2755.
Texto completoFiorito, R. B., D. W. Rule, M. A. Piestrup, X. K. Maruyama, R. M. Silzer, D. M. Skopik y A. V. Shchagin. "Polarized angular distributions of parametric x radiation and vacuum-ultraviolet transition radiation from relativistic electrons". Physical Review E 51, n.º 4 (1 de abril de 1995): R2759—R2762. http://dx.doi.org/10.1103/physreve.51.r2759.
Texto completoSchachter-Tokarz, Esther, Bruno Cassinat, Charikleia Kelaidi, Christine Chomienne, Claude Gardin, Emmanuel Raffoux, Herve Dombret, Pierre Fenaux y Robert Gallagher. "Uncommon Mutations in PML-RARα Associated with Poor Outcome after First Relapse in APL." Blood 110, n.º 11 (16 de noviembre de 2007): 4248. http://dx.doi.org/10.1182/blood.v110.11.4248.4248.
Texto completoTorisu, Hiroyuki, Ryutaro Kira, Naomi Kanazawa, Megumi Takemoto, Masafumi Sanefuji, Yasunari Sakai, Seiichi Tsujino y Toshiro Hara. "A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome". Brain and Development 28, n.º 5 (junio de 2006): 332–35. http://dx.doi.org/10.1016/j.braindev.2005.10.002.
Texto completoKanosue, K., Y. H. Zhang, M. Yanase-Fujiwara y T. Hosono. "Hypothalamic network for thermoregulatory shivering". American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 267, n.º 1 (1 de julio de 1994): R275—R282. http://dx.doi.org/10.1152/ajpregu.1994.267.1.r275.
Texto completoBurbach, J. A., E. H. Schlenker y J. L. Johnson. "Morphometry, histochemistry, and contractility of dystrophic hamster diaphragm". American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 253, n.º 2 (1 de agosto de 1987): R275—R284. http://dx.doi.org/10.1152/ajpregu.1987.253.2.r275.
Texto completoSummy-Long, J. Y., S. Gestl, M. L. Terrell, G. Wolz y M. Kadekaro. "Osmoregulation of the magnocellular neuroendocrine system during lactation". American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 272, n.º 1 (1 de enero de 1997): R275—R288. http://dx.doi.org/10.1152/ajpregu.1997.272.1.r275.
Texto completoCostford, Sheila R., Nihan Kavaslar, Nadav Ahituv, Shehla N. Chaudhry, Wendy S. Schackwitz, Robert Dent, Len A. Pennacchio, Ruth McPherson y Mary-Ellen Harper. "Gain-of-Function R225W Mutation in Human AMPKγ3 Causing Increased Glycogen and Decreased Triglyceride in Skeletal Muscle". PLoS ONE 2, n.º 9 (19 de septiembre de 2007): e903. http://dx.doi.org/10.1371/journal.pone.0000903.
Texto completoSlavov, V., N. M.A.ssou, I. Gabriel, G. Dhonneur y P. Duvaldestin. "R275 Le niveau de curarisation affecte-T-il l'analyse bispectrale lors de l'induction de l'anesthesie ?" Annales Françaises d'Anesthésie et de Réanimation 17, n.º 8 (1998): 949. http://dx.doi.org/10.1016/s0750-7658(98)80394-8.
Texto completoDang, Xiawei, Emily K. Walton, Barbara Zablocka, Robert H. Baloh, Michael E. Shy y Gerald W. Dorn. "Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation". Cells 11, n.º 6 (21 de marzo de 2022): 1053. http://dx.doi.org/10.3390/cells11061053.
Texto completoMosesson, M. W., K. R. Siebenlist y J. D. Olson. "29. Thrombophilia associated with dysfibrinogenemia (fibrinogen Cedar Rapids (g R275C)) and a concurrent heterozygous factor V Leiden defect". Fibrinolysis 10 (agosto de 1996): 11. http://dx.doi.org/10.1016/s0268-9499(96)80791-0.
Texto completoLinenberger, M. L., J. Kindelan, R. L. Bennett, A. P. Reiner y H. C. F. C�t�. "Fibrinogen Bellingham: A ?-chain R275C substitution and a ?-promoter polymorphism in a thrombotic member of an asymptomatic family". American Journal of Hematology 64, n.º 4 (2000): 242–50. http://dx.doi.org/10.1002/1096-8652(200008)64:4<242::aid-ajh2>3.0.co;2-o.
Texto completoVoskoboinik, Ilia, Marie-Claude Thia, Annette De Bono, Kylie Browne, Erika Cretney, Jacob T. Jackson, Phillip K. Darcy, Stephen M. Jane, Mark J. Smyth y Joseph A. Trapani. "The Functional Basis for Hemophagocytic Lymphohistiocytosis in a Patient with Co-inherited Missense Mutations in the Perforin (PFN1) Gene". Journal of Experimental Medicine 200, n.º 6 (13 de septiembre de 2004): 811–16. http://dx.doi.org/10.1084/jem.20040776.
Texto completoFlood, Veronica H., Hamid A. Al-Mondhiry, Antony C. Bakke y David H. Farrell. "Fibrinogen Hershey IV: A Novel Dysfibrinogen with a γ V411I Mutation in the Integrin αIibβ3 Binding Site." Blood 106, n.º 11 (16 de noviembre de 2005): 2133. http://dx.doi.org/10.1182/blood.v106.11.2133.2133.
Texto completoNegahdar, Maria, Ingvild Aukrust, Janne Molnes, Marie H. Solheim, Bente B. Johansson, Jørn V. Sagen, Knut Dahl-Jørgensen et al. "GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation". Molecular and Cellular Endocrinology 382, n.º 1 (enero de 2014): 55–65. http://dx.doi.org/10.1016/j.mce.2013.08.020.
Texto completoBezzina, Connie R., Martin B. Rook, W. Antoinette Groenewegen, Lucas J. Herfst, Allard C. van der Wal, Jan Lam, Habo J. Jongsma, Arthur A. M. Wilde y Marcel M. A. M. Mannens. "Compound Heterozygosity for Mutations (W156X and R225W) inSCN5AAssociated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System". Circulation Research 92, n.º 2 (7 de febrero de 2003): 159–68. http://dx.doi.org/10.1161/01.res.0000052672.97759.36.
Texto completoTasca, Giorgio, Massimiliano Mirabella, Aldobrando Broccolini, Mauro Monforte, Mario Sabatelli, Gian Luca Biscione, Giulio Piluso et al. "An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation". Neuromuscular Disorders 20, n.º 11 (noviembre de 2010): 730–34. http://dx.doi.org/10.1016/j.nmd.2010.07.269.
Texto completoMarsden, L., I. R. Peake, M. E. Daly y S. A. Croft. "Can full-length wild-type von Willebrand factor (VWF) or the VWF propeptide rescue secretion of the R273W VWF variant associated with quantitative deficiency?" Journal of Thrombosis and Haemostasis 1 (julio de 2003): P1662. http://dx.doi.org/10.1111/j.1538-7836.2003.tb05757.x.
Texto completoTurton, James P. G., Rachel Reynaud, Ameeta Mehta, John Torpiano, Alexandru Saveanu, Kathryn S. Woods, Anatoly Tiulpakov et al. "Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency". Journal of Clinical Endocrinology & Metabolism 90, n.º 8 (1 de agosto de 2005): 4762–70. http://dx.doi.org/10.1210/jc.2005-0570.
Texto completoMateju, Martin, Petra Kleiblova, Zdenek Kleibl, Marketa Janatova, Jana Soukupova, Ivana Ticha, Jan Novotny y Petr Pohlreich. "Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women". Breast Cancer Research and Treatment 133, n.º 2 (11 de abril de 2012): 809–11. http://dx.doi.org/10.1007/s10549-012-2049-x.
Texto completoCrawford, S. A., S. R. Costford, C. Aguer, S. C. Thomas, R. A. deKemp, J. N. DaSilva, D. Lafontaine et al. "Naturally occurring R225W mutation of the gene encoding AMP-activated protein kinase (AMPK)γ3 results in increased oxidative capacity and glucose uptake in human primary myotubes". Diabetologia 53, n.º 9 (15 de mayo de 2010): 1986–97. http://dx.doi.org/10.1007/s00125-010-1788-7.
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