Academic literature on the topic 'R274W'
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Journal articles on the topic "R274W"
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 textDissertations / Theses on the topic "R274W"
Sevegnani, Martina. "The role of Parkin R274W in genetic forms of Parkinson’s disease." Doctoral thesis, Università degli studi di Trento, 2022. https://hdl.handle.net/11572/361162.
Full textCao, Zhimin. "Characterization of the benign mutations, R247W and R249W, associated with ß-hexosaminidase A pseudodeficiency." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/nq23586.pdf.
Full textCosta, Marianges Zadrozny Gouvêa da. "Frequência de tabagismo e das mutações N34S e P55S do gene Serine Protease Inhibitor Kazal-Type 1 (SPINK1) e da mutação R254W do gene Quimotripsina C (CTRC) em pacientes portadores de pancreatite crônica e em controle." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/5/5168/tde-06112015-160722/.
Full textChronic pancreatitis is a complex disorder in which the interaction between environmental and genetic factors results in the disease. This study included 148 patients with chronic pancreatitis, 110 chronic alcoholics and 297 healthy controls in order to investigate the frequency of smoking and N34S and P55S mutation of SPINK1 gene and R254W of CTRC gene in this population. A questionnaire was applied and gene sequencing was done, after having the Informed Consent Statement. Those with chronic pancreatitis had alcoholic etiology in 74% of cases and idiopathic in 26%. Alcoholic pancreatitis presented in a distinct way of idiopathic chronic pancreatitis. The first group is composed of a higher prevalence of males (88.18% versus 34.21%), by higher mean age (55.64 years versus 45.20 years), lower frequency of Caucasians (63.89% versus 84.21%), lower education (23.30% completed secondary or higher education versus 57.89%) and worst impact from the disease such as diarrhea (54.21% versus 24.24%), weight loss (56.07% versus 24.24%), diabetes mellitus (57.94% versus 36.36%) and occurrence of pancreatic pseudocysts (31.78% versus 12 , 12%). These effects were not accompanied by increased frequency of morphological changes, such as pancreatic calcifications or dilation of the main pancreatic duct. The frequency of smoking was significantly higher in patients with alcoholic pancreatitis than in alcoholics without chronic pancreatitis, therefore tabagism may be considered as a cofactor for the development of chronic pancreatitis among alcoholics (p = 0.002); the frequency of N34S mutation of SPINK1 gene in patients with chronic pancreatitis was 3.38%, higher than the rate of 0.49% found in the control groups (p = 0.016); the frequency of 2.03% of the P55S mutation of SPINK1 gene and the frequency of 0.67% of the CTRC gene R254W mutation found in patients with chronic pancreatitis were not statistically different when compared to the frequencies of 0.49% of both mutations, found in the control groups. (p = 0.120 and 0.751) For the investigation of the association of smoking and N34S mutation of SPINK1 gene with the clinical and morphological features of chronic pancreatitis, it was noticed that the N34S mutation did not determine a greatest severity in the presentation of chronic pancreatitis, however smoking was associated with a higher frequency of diabetes mellitus in patients with chronic pancreatitis. It was concluded that smoking and the N34S mutation of SPINK1 gene are positively correlated with chronic pancreatitis
Raynauld, Vincent. "Mise en réseau d'un média émergent : l'utilisation des sources d'information en ligne par les blogues durant la campagne présidentielle américaine en 2004." Thesis, Université Laval, 2006. http://www.theses.ulaval.ca/2006/23844/23844.pdf.
Full textCao, Zhimin. "Characterization of the benign mutations, R247W and R249W, associated with B-hexosaminidase A pseudodeficiency." 1997. http://hdl.handle.net/1993/807.
Full textCao, Zhi-Min. "Characterization of the benign mutations, R247W and R249W, association with [beta]-hexosaminidase A pseudodeficiency." 1997. http://hdl.handle.net/1993/19404.
Full textConference papers on the topic "R274W"
Бедельбаева, А. В., and А. Т. Абдухаирова. "АКТИВИЗАЦИЯ ТВОРЧЕСКО-ПОЗНАВАТЕЛЬНОЙ ДЕЯТЕЛЬНОСТИ ШКОЛЬНИКОВ НА УРОКАХ ХУДОЖЕСТВЕННОГО ТРУДА." In Международная научно-практическая онлайн-конференция «Путь независимости: ориентиры и перспективы». Crossref, 2021. http://dx.doi.org/10.53355/r2748-7413-8806-u.
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