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1Dissertation/ Thesis
المؤلفون: Gratacós Mulleras, Anna
المساهمون: University/Department: Universitat de Girona. Departament de Biologia
Thesis Advisors: Peracaula Miró, Rosa, Llop Escorihuela, Esther, Llorens Duran, Rafael de
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: Càncer de pròstata, Cáncer de próstata, Prostate cancer, Antigen prostàtic específic, Antígeno específico de próstata, Prostate-specific antigen, AEP, PSA, Àcid siàlic, Ácido siálico, Sialic acid, Estratificació del risc del CP, Estratificació del risc, Estratificación del riesgo, Risk stratification, Glicosilació alterada, Glucosilación alterada, Altered glycosylation, Biomarcadors, Biomarcadores, Biomarkers, Biosensors AFL, Biosensores AFL, LFA biosensors
Time: 616.6
وصف الملف: application/pdf
URL الوصول: http://hdl.handle.net/10803/692388
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2Dissertation/ Thesis
المؤلفون: Miró Domènech, Laura
المساهمون: University/Department: Universitat de Girona. Departament de Biologia
Thesis Advisors: Peracaula Miró, Rosa, Massaguer i Vall-llovera, Anna
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: Càncer de pàncrees, Cáncer de páncreas, Pancreatic cancer, Àcid siàlic, Ácido siálico, Sialic acid, EGFR, Receptor del factor de creixement epidèrmic, Receptor del factor de crecimiento epidérmico, Epidermal growth factor receptor, Sialyl-Lewis X, Inhibidor de sialiltransferases, Inhibidor de sialiltransferasas, Sialyltransferase inhibitor, Fenotip tumoral, Fenotipo tumoral, Tumour phenotype, Ratolins singènics, Ratones singénicos, Syngeneic mice
وصف الملف: application/pdf
URL الوصول: http://hdl.handle.net/10803/688165
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3Report
المساهمون: Adeline Vanderver, MD, Program Director, Leukodystrophy Center
المصدر: LeukoSEQ: Whole Genome Sequencing As a First-Line Diagnostic Tool for Leukodystrophies
Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009 Nov;15(6):319-28. doi: 10.1097/NRL.0b013e3181b287c8.
Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology. 2010 Aug 24;75(8):718-25. doi: 10.1212/WNL.0b013e3181eee46b. Epub 2010 Jul 21.
Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin Pediatr Neurol. 2012 Dec;19(4):219-23. doi: 10.1016/j.spen.2012.10.001.
Richards J, Korgenski EK, Srivastava R, Bonkowsky JL. Costs of the diagnostic odyssey in children with inherited leukodystrophies. Neurology. 2015 Sep 29;85(13):1167-70. doi: 10.1212/WNL.0000000000001974. Epub 2015 Aug 28.
Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Targeted leukodystrophy diagnosis based on charges and yields for testing. Am J Med Genet A. 2015 Nov;167A(11):2541-3. doi: 10.1002/ajmg.a.37215. Epub 2015 Jul 16.
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031.
Srivastava S, Cohen JS, Vernon H, Baranano K, McClellan R, Jamal L, Naidu S, Fatemi A. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30.
Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group; Schiffmann R, van der Knaap MS, Taft RJ. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9.
Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 2009 Feb 24;72(8):750-9. doi: 10.1212/01.wnl.0000343049.00540.c8.
Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ; LeukoSEQ Workgroup. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 Aug;88(2):264-273. doi: 10.1002/ana.25757. Epub 2020 Jun 9. -
4Academic Journal
المؤلفون: Wen, Ru, Stark, Jessica, Marti, G, Fan, Zenghua, Lyu, Aram, Garcia Marques, Fernando, Zhang, Xiangyue, Riley, Nicholas, Totten, Sarah, Bermudez, Abel, Nolley, Rosalie, Zhao, Hongjuan, Fong, Lawrence, Engleman, Edgar, Pitteri, Sharon, Bertozzi, Carolyn, Brooks, James
المصدر: The Journal of Clinical Investigation. 134(24)
مصطلحات موضوعية: Cancer immunotherapy, Immunotherapy, Oncology, Prostate cancer, Male, Humans, Prostatic Neoplasms, Animals, Mice, Lectins, Antigens, CD, Antigens, Differentiation, Myelomonocytic, Antigens, Differentiation, B-Lymphocyte, Glycoproteins, Sialic Acid Binding Immunoglobulin-like Lectins, Cell Line, Tumor, Neoplasm Proteins
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Lund, Sean J, Del Rosario, Pamela GB, Honda, Asami, Caoili, Kaitlin J, Hoeksema, Marten A, Nizet, Victor, Patras, Kathryn A, Prince, Lawrence S
المصدر: ImmunoHorizons. 8(5)
مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Infant Mortality, Preterm, Low Birth Weight and Health of the Newborn, Lung, Infectious Diseases, Perinatal Period - Conditions Originating in Perinatal Period, Women's Health, Pediatric, 2.1 Biological and endogenous factors, Infection, Good Health and Well Being, Animals, Mice, Streptococcus agalactiae, Animals, Newborn, N-Acetylneuraminic Acid, Sialic Acid Binding Ig-like Lectin 1, Streptococcal Infections, STAT1 Transcription Factor, Mice, Knockout, Immunity, Innate, Mice, Inbred C57BL, Macrophages, Alveolar, Female, Macrophages, Lectins, Sialic Acid Binding Immunoglobulin-like Lectins, Antigens, CD, Antigens, Differentiation, B-Lymphocyte
وصف الملف: application/pdf
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6Report
المؤلفون: National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS), National Center for Advancing Translational Sciences (NCATS), Biogen, Eli Lilly and Company, Myrtelle Inc., Orchard Therapeutics Ltd., Passage Bio, Inc., Synaptix Biotherapeutics Ltd., Takeda, Boehringer Ingelheim, Ionis Pharmaceuticals, Inc., Sanofi Winthrop Industrie, Sana Biotechnology, Yaya Foundation for 4H Leukodystrophy, University of Pennsylvania, United MSD Foundation, Foundation to Fight H-ABC, Calliope Joy Foundation, Don't Forget Me Foundation
المساهمون: Adeline Vanderver, MD, Program Director, Leukodystrophy Center
المصدر: The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gartner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20. -
7Academic Journal
المؤلفون: Cardenas, Amaris, Thomas, Keena, Broden, Mary, Ferraro, Noel, Pires, Marcos, John, Constance, Criss, Alison, Jarvis, Gary
المصدر: mBio. 15(5)
مصطلحات موضوعية: Neisseria gonorrhoeae, degranulation, gonorrhea, infection, lipooligosaccharide, neutrophils, reactive oxygen species, sialylation, Neisseria gonorrhoeae, Humans, N-Acetylneuraminic Acid, Neutrophils, Neutrophil Activation, Sialic Acid Binding Immunoglobulin-like Lectins, Gonorrhea, Complement System Proteins, Lipopolysaccharides, Bacterial Outer Membrane Proteins, Respiratory Burst, Host-Pathogen Interactions, Immune Evasion
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Rai, Rewa, Robinson, Randall, Durham, Sierra, Baller, Mara, Wang, Aidong, Nitin, Nitin, Ozturk, Gulustan, Barile, Daniela, Paviani, Bruna
المصدر: Foods. 13(8)
مصطلحات موضوعية: MFGM, bioactivity, homogenization, retort, sialic acid, ultra-high temperature, vat pasteurization, xanthine oxidase
وصف الملف: application/pdf
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9Academic Journal
المؤلفون: Yinan Hu, Yanhong Ren, Yinzhen Han, Zhen Li, Weiqing Meng, Yuhui Qiang, Mengyuan Liu, Huaping Dai
المصدر: Respiratory Research, Vol 26, Iss 1, Pp 1-14 (2025)
مصطلحات موضوعية: Lipoid pneumonia, Superoxide dismutase type1, Total sialic acid, Machine learning, Rare disease, Diseases of the respiratory system, RC705-779
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1465-993X
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10Academic Journal
المؤلفون: Wei Zhang, Meizhen Zhu, Kelsang Dekyi, Linxi Zheng, Yichen Zhang, Youping Lv, Dongbei Guo, Xiaoxuan Chen, Lili Pan, Xinyue Wang, Hongwei Li
المصدر: Food Frontiers, Vol 6, Iss 1, Pp 402-417 (2025)
مصطلحات موضوعية: 3′‐sialyllactose, glucose and lipid metabolic homeostasis, gut microbe, obese, sialic acid, transcriptome and metabolomics analysis, Nutrition. Foods and food supply, TX341-641, Food processing and manufacture, TP368-456
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2643-8429
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11Academic Journal
المؤلفون: Ning Yang, Yang Li, Yifei Cai, Yuanyuan Liu, Yunhang Zhang, Yuguang Fu, Chen Tan, Luc Willems, Guangliang Liu
المصدر: BMC Biology, Vol 22, Iss 1, Pp 1-21 (2024)
مصطلحات موضوعية: Coronavirus, Intestinal organoid monolayer, Air‒liquid interface (ALI), Mucus layer, Muc2, Sialic acid, Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1741-7007
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12Dissertation/ Thesis
المؤلفون: Bosch Morató, Mònica
المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut
Thesis Advisors: Muñoz López, Francisco José
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: Amyloid β-peptide (Aβ), GNE myopathy, Alzheimer’s disease, Sialic acid, Toxicity, Pèptid β-amiloide (Aβ), Miopatia de GNE, Malaltia d’Alzheimer, Àcid siàlic, Toxicitat
وصف الملف: application/pdf
URL الوصول: http://hdl.handle.net/10803/650351
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13Academic Journal
المؤلفون: Harb, Jerry F, Christensen, Chloe L, Kan, Shih-Hsin, Rha, Allisandra K, Andrade-Heckman, Perla, Pollard, Laura, Steet, Richard, Huang, Jeffrey Y, Wang, Raymond Y
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Genetics, Good Health and Well Being, CRISPR-Cas9, MT: RNA/DNA editing, SLC17A5, Salla, free sialic acid storage disease, Clinical Sciences, Biochemistry and cell biology
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: Yu, Hai, Zheng, Zimin, Zhang, Libo, Yang, Xiaohong, Varki, Ajit, Chen, Xi
مصطلحات موضوعية: Medicinal and Biomolecular Chemistry, Organic Chemistry, Chemical Sciences, b-Series ganglioside, Chemoenzymatic synthesis, Glycosphingolipid, 9-N-acetyl sialic acid, O-acetyl sialic acid, One-pot multienzyme, b-series ganglioside, chemoenzymatic synthesis, glycosphingolipid, one-pot multienzyme, Biochemistry and cell biology, Medicinal and biomolecular chemistry, Organic chemistry
وصف الملف: application/pdf
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15Academic Journal
المؤلفون: Błażej Ochman, Anna Kot, Sylwia Mielcarska, Agnieszka Kula, Miriam Dawidowicz, Dominika Koszewska, Dorota Hudy, Monika Szrot, Jerzy Piecuch, Dariusz Waniczek, Zenon Czuba, Elżbieta Świętochowska
المصدر: Current Issues in Molecular Biology, Vol 46, Iss 12, Pp 13617-13646 (2024)
مصطلحات موضوعية: colorectal cancer (CRC), human sialic-acid-binding immunoglobulin-like lectin-9 (SIGLEC9), microenvironment, tumor, K-ras oncogene, proto-oncogene proteins B-raf (BRAF), Biology (General), QH301-705.5
وصف الملف: electronic resource
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16Academic Journal
المؤلفون: Norihiro Yamada, Kana Tominaga, Naoomi Tominaga, Ayumi Kobayashi, Chihiro Niino, Yuta Miyagi, Hirotaka Yamagata, Shin Nakagawa
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Major depressive disorders, Extracellular vesicles, Glycans, Wheat germ agglutinin, Sialic acid, Von Willebrand factor, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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17Academic Journal
المؤلفون: Carlos Emilio Rodríguez, Mette Diswall, Anders Olsson, Torleif Jonsson, Eva Johansson, Maria Blomqvist
المصدر: JIMD Reports, Vol 65, Iss 6, Pp 442-449 (2024)
مصطلحات موضوعية: age‐dependent reference intervals, continuous reference intervals, glycoproteinosis, glycosaminoglycans, mucopolysaccharidosis, sialic acid, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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18Academic Journal
المؤلفون: Zecheng Zhou, Wei Zhang, Xinyue Wang, Wanqiu Sha, Zhikun Xu, Hongwei Li, Jiale Huang
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Dietary sialic acid, Glycosylated hemoglobin, Adult, Cross-sectional analysis, Logistic regression, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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19Academic Journal
المؤلفون: Durdi Qujeq, Roya Abbasi Natajomrani, Reza Hajihosseini, Vahid Hosseini, Arash Kazemi Veisari, Khadijeh Hoznian
المصدر: Middle East Journal of Cancer, Vol 15, Iss 4, Pp 272-280 (2024)
مصطلحات موضوعية: glycoproteins, fucosyltransferase, galectin, l-fucose, sialic acid, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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20Academic Journal
المصدر: Emerging Infectious Diseases, Vol 30, Iss 9, Pp 1907-1911 (2024)
مصطلحات موضوعية: influenza A virus, influenza, viruses, host tropism, sialic acid, receptor, Medicine, Infectious and parasitic diseases, RC109-216
وصف الملف: electronic resource