Journal articles on the topic 'R274W'
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Dang, Xiawei, Emily K. Walton, Barbara Zablocka, Robert H. Baloh, Michael E. Shy, and Gerald W. Dorn. "Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation." Cells 11, no. 6 (March 21, 2022): 1053. http://dx.doi.org/10.3390/cells11061053.
Full textJennings, Juliet E., Marianthi Georgitsi, Ian Holdaway, Adrian F. Daly, Maria Tichomirowa, Albert Beckers, Lauri A. Aaltonen, Auli Karhu, and 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, no. 5 (November 2009): 799–804. http://dx.doi.org/10.1530/eje-09-0406.
Full textAllen, Simon, Adel M. Abuzenadah, Joanna Hinks, Joanna L. Blagg, Turkiz Gursel, Jørgen Ingerslev, Anne C. Goodeve, Ian R. Peake, and 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, no. 2 (July 15, 2000): 560–68. http://dx.doi.org/10.1182/blood.v96.2.560.
Full textAllen, Simon, Adel M. Abuzenadah, Joanna Hinks, Joanna L. Blagg, Turkiz Gursel, Jørgen Ingerslev, Anne C. Goodeve, Ian R. Peake, and 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, no. 2 (July 15, 2000): 560–68. http://dx.doi.org/10.1182/blood.v96.2.560.014k01_560_568.
Full textTamaura, 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, no. 4 (December 23, 2019): 259–72. http://dx.doi.org/10.1093/intimm/dxz079.
Full textLafrenière, Jacynthe, Catherine Laramée, Julie Robitaille, Benoît Lamarche, and 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, no. 15 (July 6, 2018): 2744–52. http://dx.doi.org/10.1017/s1368980018001611.
Full textJalnapurkar, Sapana S., Aishwarya Pawar, Patrick Somers, Gabrielle Ochoco, Subin S. George, Maxim Pimkin, and Vikram R. Paralkar. "PHF6 Restricts AML Acceleration By Promoting Myeloid Differentiation Genes in Leukemic Cells." Blood 136, Supplement 1 (November 5, 2020): 42–43. http://dx.doi.org/10.1182/blood-2020-137134.
Full textLaramée, Catherine, Simone Lemieux, Julie Robitaille, and 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, no. 21 (October 28, 2022): 4543. http://dx.doi.org/10.3390/nu14214543.
Full textParadis, Frédérique, Benoît Lamarche, Julie Robitaille, Charles Couillard, Jacynthe Lafrenière, André J. Tremblay, Louise Corneau, and 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, no. 2 (February 2022): 173–82. http://dx.doi.org/10.1139/apnm-2021-0445.
Full textAndolfo, Immacolata, Roberta Russo, Francesco Manna, Marica Lisa Salve, Alok K. Sharma, Seth L. Alper, Lucia De Franceschi, and Achille Iolascon. "Detection of Familial Pseudohyperkalemia Among Italian Blood Donors By Genetic Screening for the R276W Mutation in ABCB6." Blood 126, no. 23 (December 3, 2015): 2132. http://dx.doi.org/10.1182/blood.v126.23.2132.2132.
Full textAarskog, D., H. G. Eiken, R. Bjerknes, and O. L. Myking. "Pituitary dwarfism in the R271W Pit-1 gene mutation." European Journal of Pediatrics 156, no. 11 (October 1997): 829–34. http://dx.doi.org/10.1007/s004310050722.
Full textKumar, K. M., P. Lavanya, Anand Anbarasu, and 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, no. 12 (November 21, 2013): 1953–68. http://dx.doi.org/10.1080/07391102.2013.847804.
Full textMORIZONO, Hiroki, Mendel TUCHMAN, Basavapatna S. RAJAGOPAL, Mark T. McCANN, Chad D. LISTROM, Xiaoling YUAN, Divakaramenon VENUGOPAL, George BARANY, and 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, no. 2 (March 1, 1997): 625–31. http://dx.doi.org/10.1042/bj3220625.
Full textPawar, Aishwarya, Patrick Somers, Roman Verner, Charles Antony, Subin S. George, Maxim Pimkin, and Vikram R. Paralkar. "PHF6 Positively Regulates Transcription of Myeloid Differentiation Genes By Binding at Enhancer Regions." Blood 138, Supplement 1 (November 5, 2021): 3303. http://dx.doi.org/10.1182/blood-2021-151490.
Full textWang, C., R. Lu, X. Ouyang, M. W. L. Ho, W. Chia, F. Yu, and K. L. Lim. "Drosophila Overexpressing Parkin R275W Mutant Exhibits Dopaminergic Neuron Degeneration and Mitochondrial Abnormalities." Journal of Neuroscience 27, no. 32 (August 8, 2007): 8563–70. http://dx.doi.org/10.1523/jneurosci.0218-07.2007.
Full textHeneghan, John F., Arash Akhavein, Maria J. Salas, Boris E. Shmukler, Lawrence P. Karniski, David H. Vandorpe, and Seth L. Alper. "Regulated transport of sulfate and oxalate by SLC26A2/DTDST." American Journal of Physiology-Cell Physiology 298, no. 6 (June 2010): C1363—C1375. http://dx.doi.org/10.1152/ajpcell.00004.2010.
Full textBallhausen, D. "Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W." Journal of Medical Genetics 40, no. 1 (January 1, 2003): 65–71. http://dx.doi.org/10.1136/jmg.40.1.65.
Full textWard, 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, no. 8 (April 16, 2021): 1156–69. http://dx.doi.org/10.1161/circresaha.120.316966.
Full textDey, Bishwajyoti, and Avinash Khare. "Stability of compacton solutions." Physical Review E 58, no. 3 (September 1, 1998): R2741—R2744. http://dx.doi.org/10.1103/physreve.58.r2741.
Full textPeschel, U., D. Michaelis, C. Etrich, and F. Lederer. "Formation, motion, and decay of vectorial cavity solitons." Physical Review E 58, no. 3 (September 1, 1998): R2745—R2748. http://dx.doi.org/10.1103/physreve.58.r2745.
Full textMarroum, Renata-Maria, Germano S. Iannacchione, Daniele Finotello, and Michael A. Lee. "Numerical study of cylindrically confined nematic liquid crystals." Physical Review E 51, no. 4 (April 1, 1995): R2743—R2746. http://dx.doi.org/10.1103/physreve.51.r2743.
Full textScheerboom, Marcel I. M., and Jan A. Schouten. "Critical broadening of the vibrational linewidth by concentration fluctuations." Physical Review E 51, no. 4 (April 1, 1995): R2747—R2750. http://dx.doi.org/10.1103/physreve.51.r2747.
Full textGairard, A. C., F. Adam, M. C.H.auvin, D. Le Bars, and F. Guirimand. "R274 La ketamine augmente la puissance du sufentanil: Etude experimentale chez le rat." Annales Françaises d'Anesthésie et de Réanimation 17, no. 8 (January 1998): 949. http://dx.doi.org/10.1016/s0750-7658(98)80393-6.
Full textHe, X., J. Lobsiger, and 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, no. 44 (October 21, 2009): 18545–50. http://dx.doi.org/10.1073/pnas.0907454106.
Full textCarr, Jonathan, Ilaria Guella, Chelsea Szu-Tu, Sihaam Boolay, Brigitte Glanzmann, Matthew J. Farrer, and Soraya Bardien. "Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease." Movement Disorders 31, no. 3 (February 10, 2016): 423–25. http://dx.doi.org/10.1002/mds.26524.
Full textKladova, Olga A., Irina V. Alekseeva, Murat Saparbaev, Olga S. Fedorova, and 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, no. 19 (September 28, 2020): 7147. http://dx.doi.org/10.3390/ijms21197147.
Full textFujiki, Ryoji, Atsushi Hijikata, Tsuyoshi Shirai, Satoshi Okada, Masao Kobayashi, and Osamu Ohara. "Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation." Journal of Biological Chemistry 292, no. 15 (March 3, 2017): 6240–54. http://dx.doi.org/10.1074/jbc.m116.753848.
Full textTomanicek, Stephen J., Matthew P. Blakeley, Jonathan Cooper, Yu Chen, Pavel V. Afonine, and Leighton Coates. "Neutron Diffraction Studies of a Class A β-Lactamase Toho-1 E166A/R274N/R276N Triple Mutant." Journal of Molecular Biology 396, no. 4 (March 2010): 1070–80. http://dx.doi.org/10.1016/j.jmb.2009.12.036.
Full textSchachter-Tokarz, Esther, Bruno Cassinat, Charikleia Kelaidi, Christine Chomienne, Claude Gardin, Emmanuel Raffoux, Herve Dombret, Pierre Fenaux, and Robert Gallagher. "Uncommon Mutations in PML-RARα Associated with Poor Outcome after First Relapse in APL." Blood 110, no. 11 (November 16, 2007): 4248. http://dx.doi.org/10.1182/blood.v110.11.4248.4248.
Full textCurran-Everett, D. C., J. R. Claybaugh, K. Miki, S. K. Hong, and 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, no. 2 (August 1, 1988): R274—R283. http://dx.doi.org/10.1152/ajpregu.1988.255.2.r274.
Full textReinhardt, H. W., U. Palm, R. Mohnhaupt, K. Dannenberg, and W. Boemke. "Computer-assisted long-term measurements of urinary output and other biological data." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 258, no. 1 (January 1, 1990): R274—R280. http://dx.doi.org/10.1152/ajpregu.1990.258.1.r274.
Full textHoban, T. M., and 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, no. 2 (August 1, 1985): R274—R280. http://dx.doi.org/10.1152/ajpregu.1985.249.2.r274.
Full textTurton, W. E., J. Ciriello, and F. R. Calaresu. "Changes in forebrain hexokinase activity after aortic baroreceptor denervation." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 251, no. 2 (August 1, 1986): R274—R281. http://dx.doi.org/10.1152/ajpregu.1986.251.2.r274.
Full textGrant, D. A., C. Franzini, J. Wild, and 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, no. 2 (August 1, 1995): R274—R279. http://dx.doi.org/10.1152/ajpregu.1995.269.2.r274.
Full textLeón-Velarde, F., M. C. Bourin, R. Germack, K. Mohammadi, B. Crozatier, and 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, no. 1 (January 1, 2001): R274—R281. http://dx.doi.org/10.1152/ajpregu.2001.280.1.r274.
Full textBergeron, 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, no. 10 (September 30, 2019): 2317. http://dx.doi.org/10.3390/nu11102317.
Full textCao, Zhimin, Emmanuel Petroulakis, Timothy Salo, and 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, no. 23 (June 6, 1997): 14975–82. http://dx.doi.org/10.1074/jbc.272.23.14975.
Full textTasca, 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, no. 11 (November 2010): 730–34. http://dx.doi.org/10.1016/j.nmd.2010.07.269.
Full textRuffmann, Claudio, Michela Zini, Stefano Goldwurm, Manuela Bramerio, Sonia Spinello, Damiana Rusconi, Marcello Gambacorta, Fabrizio Tagliavini, Gianni Pezzoli, and 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, no. 6 (May 4, 2012): 901–3. http://dx.doi.org/10.1007/s00401-012-0991-7.
Full textMano, Hiroki, Miyu Nishikawa, Kaori Yasuda, Shinichi Ikushiro, Nozomi Saito, Daisuke Sawada, Shinobu Honzawa, Masashi Takano, Atsushi Kittaka, and 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 (March 2017): 61–66. http://dx.doi.org/10.1016/j.jsbmb.2016.11.008.
Full textMarsden, L., I. R. Peake, M. E. Daly, and 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 (July 2003): P1662. http://dx.doi.org/10.1111/j.1538-7836.2003.tb05757.x.
Full textKoika, 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, no. 1 (March 2013): 146–51. http://dx.doi.org/10.1016/j.gene.2012.12.041.
Full textTurton, 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, no. 8 (August 1, 2005): 4762–70. http://dx.doi.org/10.1210/jc.2005-0570.
Full textVondracek, P., M. Hermanova, H. Oslejskova, J. Soukalova, R. Gaillyova, V. Malinova, H. Poupetova, D. Halley, and 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, no. 9-10 (October 2007): 793. http://dx.doi.org/10.1016/j.nmd.2007.06.111.
Full textDaly, 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, no. 5 (May 1, 2007): 1891–96. http://dx.doi.org/10.1210/jc.2006-2513.
Full textNovak, Gabriela, Steven Finkbeiner, Gaia Skibinski, Michela Bernini, Cristina Donato, and 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 (May 2022): 102765. http://dx.doi.org/10.1016/j.scr.2022.102765.
Full textTerkawi, 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 (November 5, 2021): 1154. http://dx.doi.org/10.1182/blood-2021-153554.
Full textda 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, and 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, no. 9 (October 2016): 1330–35. http://dx.doi.org/10.1097/mpa.0000000000000650.
Full textRochefort, Gabrielle, Didier Brassard, Julie Robitaille, Véronique Provencher, Simone Lemieux, and 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 (June 2022): 396. http://dx.doi.org/10.1093/cdn/nzac054.051.
Full textTan, 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, no. 9 (July 19, 2019): 2828–44. http://dx.doi.org/10.1093/brain/awz191.
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