Artículos de revistas sobre el tema "R274W"
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Dang, 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 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 completoTamaura, Moe, Naoko Satoh-Takayama, Miyuki Tsumura, Takaharu Sasaki, Satoshi Goda, Tomoko Kageyama, Seiichi Hayakawa et al. "Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice". International Immunology 32, n.º 4 (23 de diciembre de 2019): 259–72. http://dx.doi.org/10.1093/intimm/dxz079.
Texto completoLafrenière, Jacynthe, Catherine Laramée, Julie Robitaille, Benoît Lamarche y Simone Lemieux. "Assessing the relative validity of a new, web-based, self-administered 24 h dietary recall in a French-Canadian population". Public Health Nutrition 21, n.º 15 (6 de julio de 2018): 2744–52. http://dx.doi.org/10.1017/s1368980018001611.
Texto completoJalnapurkar, Sapana S., Aishwarya Pawar, Patrick Somers, Gabrielle Ochoco, Subin S. George, Maxim Pimkin y Vikram R. Paralkar. "PHF6 Restricts AML Acceleration By Promoting Myeloid Differentiation Genes in Leukemic Cells". Blood 136, Supplement 1 (5 de noviembre de 2020): 42–43. http://dx.doi.org/10.1182/blood-2020-137134.
Texto completoLaramée, Catherine, Simone Lemieux, Julie Robitaille y Benoît Lamarche. "Comparing the Usability of the Web-Based 24-h Dietary Recall R24W and ASA24-Canada-2018 among French-Speaking Adults from Québec". Nutrients 14, n.º 21 (28 de octubre de 2022): 4543. http://dx.doi.org/10.3390/nu14214543.
Texto completoParadis, Frédérique, Benoît Lamarche, Julie Robitaille, Charles Couillard, Jacynthe Lafrenière, André J. Tremblay, Louise Corneau y Simone Lemieux. "Validation of an automated self-administered 24-hour dietary recall web application against urinary recovery biomarkers in a sample of French-speaking adults of the province of Québec, Canada". Applied Physiology, Nutrition, and Metabolism 47, n.º 2 (febrero de 2022): 173–82. http://dx.doi.org/10.1139/apnm-2021-0445.
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 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 completoKumar, K. M., P. Lavanya, Anand Anbarasu y Sudha Ramaiah. "Molecular dynamics and molecular docking studies on E166A point mutant, R274N/R276N double mutant, and E166A/R274N/R276N triple mutant forms of class A β-lactamases". Journal of Biomolecular Structure and Dynamics 32, n.º 12 (21 de noviembre de 2013): 1953–68. http://dx.doi.org/10.1080/07391102.2013.847804.
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 completoPawar, Aishwarya, Patrick Somers, Roman Verner, Charles Antony, Subin S. George, Maxim Pimkin y Vikram R. Paralkar. "PHF6 Positively Regulates Transcription of Myeloid Differentiation Genes By Binding at Enhancer Regions". Blood 138, Supplement 1 (5 de noviembre de 2021): 3303. http://dx.doi.org/10.1182/blood-2021-151490.
Texto completoWang, 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 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 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 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 completoDey, Bishwajyoti y Avinash Khare. "Stability of compacton solutions". Physical Review E 58, n.º 3 (1 de septiembre de 1998): R2741—R2744. http://dx.doi.org/10.1103/physreve.58.r2741.
Texto completoPeschel, U., D. Michaelis, C. Etrich y F. Lederer. "Formation, motion, and decay of vectorial cavity solitons". Physical Review E 58, n.º 3 (1 de septiembre de 1998): R2745—R2748. http://dx.doi.org/10.1103/physreve.58.r2745.
Texto completoMarroum, Renata-Maria, Germano S. Iannacchione, Daniele Finotello y Michael A. Lee. "Numerical study of cylindrically confined nematic liquid crystals". Physical Review E 51, n.º 4 (1 de abril de 1995): R2743—R2746. http://dx.doi.org/10.1103/physreve.51.r2743.
Texto completoScheerboom, Marcel I. M. y Jan A. Schouten. "Critical broadening of the vibrational linewidth by concentration fluctuations". Physical Review E 51, n.º 4 (1 de abril de 1995): R2747—R2750. http://dx.doi.org/10.1103/physreve.51.r2747.
Texto completoGairard, A. C., F. Adam, M. C.H.auvin, D. Le Bars y F. Guirimand. "R274 La ketamine augmente la puissance du sufentanil: Etude experimentale chez le rat". Annales Françaises d'Anesthésie et de Réanimation 17, n.º 8 (enero de 1998): 949. http://dx.doi.org/10.1016/s0750-7658(98)80393-6.
Texto completoHe, X., J. Lobsiger y A. Stocker. "Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W". Proceedings of the National Academy of Sciences 106, n.º 44 (21 de octubre de 2009): 18545–50. http://dx.doi.org/10.1073/pnas.0907454106.
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 completoKladova, Olga A., Irina V. Alekseeva, Murat Saparbaev, Olga S. Fedorova y Nikita A. Kuznetsov. "Modulation of the Apurinic/Apyrimidinic Endonuclease Activity of Human APE1 and of Its Natural Polymorphic Variants by Base Excision Repair Proteins". International Journal of Molecular Sciences 21, n.º 19 (28 de septiembre de 2020): 7147. http://dx.doi.org/10.3390/ijms21197147.
Texto completoFujiki, Ryoji, Atsushi Hijikata, Tsuyoshi Shirai, Satoshi Okada, Masao Kobayashi y Osamu Ohara. "Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation". Journal of Biological Chemistry 292, n.º 15 (3 de marzo de 2017): 6240–54. http://dx.doi.org/10.1074/jbc.m116.753848.
Texto completoTomanicek, Stephen J., Matthew P. Blakeley, Jonathan Cooper, Yu Chen, Pavel V. Afonine y Leighton Coates. "Neutron Diffraction Studies of a Class A β-Lactamase Toho-1 E166A/R274N/R276N Triple Mutant". Journal of Molecular Biology 396, n.º 4 (marzo de 2010): 1070–80. http://dx.doi.org/10.1016/j.jmb.2009.12.036.
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 completoCurran-Everett, D. C., J. R. Claybaugh, K. Miki, S. K. Hong y J. A. Krasney. "Hormonal and electrolyte responses of conscious sheep to 96 h of hypoxia". American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 255, n.º 2 (1 de agosto de 1988): R274—R283. http://dx.doi.org/10.1152/ajpregu.1988.255.2.r274.
Texto completoReinhardt, H. W., U. Palm, R. Mohnhaupt, K. Dannenberg y W. Boemke. "Computer-assisted long-term measurements of urinary output and other biological data". American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 258, n.º 1 (1 de enero de 1990): R274—R280. http://dx.doi.org/10.1152/ajpregu.1990.258.1.r274.
Texto completoHoban, T. M. y F. M. Sulzman. "Light effects on circadian timing system of a diurnal primate, the squirrel monkey". American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 249, n.º 2 (1 de agosto de 1985): R274—R280. http://dx.doi.org/10.1152/ajpregu.1985.249.2.r274.
Texto completoTurton, W. E., J. Ciriello y F. R. Calaresu. "Changes in forebrain hexokinase activity after aortic baroreceptor denervation". American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 251, n.º 2 (1 de agosto de 1986): R274—R281. http://dx.doi.org/10.1152/ajpregu.1986.251.2.r274.
Texto completoGrant, D. A., C. Franzini, J. Wild y A. M. Walker. "Continuous measurement of blood flow in the superior sagittal sinus of the lamb". American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 269, n.º 2 (1 de agosto de 1995): R274—R279. http://dx.doi.org/10.1152/ajpregu.1995.269.2.r274.
Texto completoLeón-Velarde, F., M. C. Bourin, R. Germack, K. Mohammadi, B. Crozatier y J. P. Richalet. "Differential alterations in cardiac adrenergic signaling in chronic hypoxia or norepinephrine infusion". American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 280, n.º 1 (1 de enero de 2001): R274—R281. http://dx.doi.org/10.1152/ajpregu.2001.280.1.r274.
Texto completoBergeron, Amélie, Marie-Ève Labonté, Didier Brassard, Alexandra Bédard, Catherine Laramée, Julie Robitaille, Sophie Desroches et al. "Intakes of Total, Free, and Naturally Occurring Sugars in the French-Speaking Adult Population of the Province of Québec, Canada: The PREDISE Study". Nutrients 11, n.º 10 (30 de septiembre de 2019): 2317. http://dx.doi.org/10.3390/nu11102317.
Texto completoCao, Zhimin, Emmanuel Petroulakis, Timothy Salo y Barbara Triggs-Raine. "BenignHEXAMutations, C739T(R247W) and C745T(R249W), Cause β-Hexosaminidase A Pseudodeficiency by Reducing the α-Subunit Protein Levels". Journal of Biological Chemistry 272, n.º 23 (6 de junio de 1997): 14975–82. http://dx.doi.org/10.1074/jbc.272.23.14975.
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 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 completoMano, Hiroki, Miyu Nishikawa, Kaori Yasuda, Shinichi Ikushiro, Nozomi Saito, Daisuke Sawada, Shinobu Honzawa, Masashi Takano, Atsushi Kittaka y Toshiyuki Sakaki. "Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor". Journal of Steroid Biochemistry and Molecular Biology 167 (marzo de 2017): 61–66. http://dx.doi.org/10.1016/j.jsbmb.2016.11.008.
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 completoKoika, Vasiliki, Petros Varnavas, Helen Valavani, Yisrael Sidis, Lacey Plummer, Andrew Dwyer, Richard Quinton et al. "Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH)". Gene 516, n.º 1 (marzo de 2013): 146–51. http://dx.doi.org/10.1016/j.gene.2012.12.041.
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 completoVondracek, P., M. Hermanova, H. Oslejskova, J. Soukalova, R. Gaillyova, V. Malinova, H. Poupetova, D. Halley y A. van der Ploeg. "M.P.2.02 A family with multiple members affected by late-onset Pompe disease due to the R224W(670C>T) mutation: Potential candidates for enzyme replacement therapy?" Neuromuscular Disorders 17, n.º 9-10 (octubre de 2007): 793. http://dx.doi.org/10.1016/j.nmd.2007.06.111.
Texto completoDaly, Adrian F., Jean-François Vanbellinghen, Sok Kean Khoo, Marie-Lise Jaffrain-Rea, Luciana A. Naves, Mirtha A. Guitelman, Arnaud Murat et al. "Aryl Hydrocarbon Receptor-Interacting Protein Gene Mutations in Familial Isolated Pituitary Adenomas: Analysis in 73 Families". Journal of Clinical Endocrinology & Metabolism 92, n.º 5 (1 de mayo de 2007): 1891–96. http://dx.doi.org/10.1210/jc.2006-2513.
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 completoTerkawi, Laila, Carmelo Gurnari, Sunisa Kongkiatkamon, Simona Pagliuca, Minako Mori, Hassan Awada, Ishani Pandit et al. "Genomic Landscape of PHD Finger Protein 6 (PHF6) Mutant Myeloid Neoplasia". Blood 138, Supplement 1 (5 de noviembre de 2021): 1154. http://dx.doi.org/10.1182/blood-2021-153554.
Texto completoda Costa, Marianges Zadrozny Gouvêa, Júlia Glória Lucatelli Pires, Paulo Dominguez Nasser, Camila da Silva Ferreira, Ana Cristina de Sá Teixeira, Denise Cerqueira Paranaguá-Vezozzo, Dulce Reis Guarita, Flair José Carrilho y Suzane Kioko Ono. "Frequency of Tabagism and N34S and P55S Mutations of Serine Peptidase Inhibitor, Kazal Type 1 (SPINK1) and R254W Mutation of Chymotrypsin C (CTRC) in Patients With Chronic Pancreatitis and Controls". Pancreas 45, n.º 9 (octubre de 2016): 1330–35. http://dx.doi.org/10.1097/mpa.0000000000000650.
Texto completoRochefort, Gabrielle, Didier Brassard, Julie Robitaille, Véronique Provencher, Simone Lemieux y Benoît Lamarche. "Transitioning to Sustainable Dietary Patterns: Learnings From the Dietary Patterns of Adults With Low Animal Protein Consumption in the Province of Quebec". Current Developments in Nutrition 6, Supplement_1 (junio de 2022): 396. http://dx.doi.org/10.1093/cdn/nzac054.051.
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.
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