المؤلفون: Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogoli, Andrea, Zara, Frederico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Vockley, Catherine Walsh, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L

المصدر: Brain. 144(12)

مصطلحات موضوعية: Digestive Diseases, Pediatric, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Oral and gastrointestinal, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intestinal Atresia, Male, Minor Histocompatibility Antigens, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Polymorphism, Single Nucleotide, Primary Immunodeficiency Diseases, hypomyelinating leukodystrophy, multiple intestinal atresia, PI4KA, FAM126A, TTC7A, PI4KA, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9g7991s4

المؤلفون: Ziyad, Safiyyah, Riordan, Jesse D, Cavanaugh, Ann M, Su, Trent, Hernandez, Gloria E, Hilfenhaus, Georg, Morselli, Marco, Huynh, Kristine, Wang, Kevin, Chen, Jau-Nian, Dupuy, Adam J, Iruela-Arispe, M Luisa

المصدر: Cell Reports. 22(5)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Stem Cell Research, Cancer, Rare Diseases, Hematology, Genetics, 2.1 Biological and endogenous factors, Aetiology, Animals, Cell Differentiation, Erythropoiesis, Hemangioblasts, Humans, Leukemia, Mice, Mice, Inbred C57BL, Mice, Transgenic, Minor Histocompatibility Antigens, Mutagenesis, Myelopoiesis, Phosphotransferases (Alcohol Group Acceptor), Zebrafish, Akt, Erk, PI4KAP2, Pi4ka, erythropoiesis, hematopoiesis, hemogenic endothelium, leukemia, lipid kinase, myelopoiesis, Medical Physiology, Biological sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4r45f0n3

المؤلفون: Kaihui Zhang, Lili Kang, Haozheng Zhang, Lu Bai, Huanping Pang, Qinghua Liu, Xinyi Zhang, Dong Chen, Haihua Yu, Yuqiang Lv, Min Gao, Yi Liu, Zhongtao Gai, Dong Wang, Xiaoying Li

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: PI4KA, diarrheal, immunodeficiency, synonymous mutation, minigene splicing assay, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.987666/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/df40e49045754a0fa387c0cd6616915f

المؤلفون: McPhail, Jacob A.^Aff7, Burke, John E.^Aff7

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Xiao, Junjie, Series Editor^Aff5, Kihara, Yasuyuki, editor^Aff6

المصدر: Druggable Lipid Signaling Pathways. 1274:203-222

المؤلفون: Christopher M. Counter, John F. Hancock, Hema Adhikari, Shivesh Kumar, Pei Zhou, Walaa E Kattan

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-21 (2021)

مصطلحات موضوعية: Neuroblastoma RAS viral oncogene homolog, Lung Neoplasms, endocrine system diseases, Carcinogenesis, Pyridines, General Physics and Astronomy, Mice, SCID, medicine.disease_cause, Piperazines, Madin Darby Canine Kidney Cells, Mice, Phosphatidylinositol Phosphates, Enzyme Inhibitors, Multidisciplinary, Kinase, Chemistry, Effector, Signal transducing adaptor protein, Tumor Burden, Phosphotransferases (Alcohol Group Acceptor), Female, KRAS, Science, Antineoplastic Agents, Phosphatidylserines, General Biochemistry, Genetics and Molecular Biology, Minor Histocompatibility Antigens, Proto-Oncogene Proteins p21(ras), Dogs, Cell Line, Tumor, medicine, Animals, Humans, HRAS, neoplasms, Adaptor Proteins, Signal Transducing, Cell Membrane, Membrane Proteins, Epithelial Cells, General Chemistry, Survival Analysis, Xenograft Model Antitumor Assays, digestive system diseases, respiratory tract diseases, Pancreatic Neoplasms, HEK293 Cells, Pyrimidines, Mutation, Cancer research, PI4KA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b6aa2959ccaefc2d7cd10082bf78f77
https://doaj.org/article/b15aa2d411704499ade6c2c0e8aff6f3

المؤلفون: Elizabeth Conibear, Tamas Balla, Péter Várnai, Meredith L. Jenkins, Anne-Claude Gingras, Matthew A.H. Parson, Nicole St-Denis, John E. Burke, Idil Ulengin-Talkish, Gergo Gulyas, Alexis Z. L. Shih, Martha S. Cyert, Jagoree Roy

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)

مصطلحات موضوعية: Cytoplasm, Science, Lipoylation, Phosphatase, General Physics and Astronomy, Golgi Apparatus, Biochemistry, General Biochemistry, Genetics and Molecular Biology, Cell Line, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, 0302 clinical medicine, Palmitoylation, Genetics, Humans, Protein Isoforms, Phosphatidylinositol, 1-Phosphatidylinositol 4-Kinase, Molecular Biology, 030304 developmental biology, Adaptor Proteins, Signal Transducing, 0303 health sciences, Multidisciplinary, Kinase, Calcineurin, Cell Membrane, Intracellular Signaling Peptides and Proteins, Membrane Proteins, General Chemistry, Golgi apparatus, Phosphoric Monoester Hydrolases, 3. Good health, Cell biology, chemistry, symbols, lipids (amino acids, peptides, and proteins), Signal transduction, 030217 neurology & neurosurgery, PI4KA, Protein Binding, Signal Transduction, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a204e7e2597f48da04fba147a872fb8
https://doi.org/10.1096/fasebj.2022.36.s1.r6277

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تسجيل الدخول للوصول الكامل.

المؤلفون: Cristina M. Dorobantu, Lucian Albulescu, Heyrhyoung Lyoo, Mirjam van Kampen, Raffaele De Francesco, Volker Lohmann, Christian Harak, Hilde M. van der Schaar, Jeroen R. P. M. Strating, Alexander E. Gorbalenya, Frank J. M. van Kuppeveld

المصدر: mSphere, Vol 1, Iss 3 (2016)

مصطلحات موضوعية: EMCV, OSBP, PI4KA, PI4P, cholesterol, mutants, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-5042

URL الوصول: https://doaj.org/article/95a6ee69959a49289b7cdb53a02feac5

المؤلفون: Olivia Wenger, Matteo P. Ferla, Ilka Warshawsky, Martin Munteanu, Cas Simons, Matthew Wakeling, Claire G. Salter, Joshua A. Lees, Bernice Lo, Pietro De Camilli, Emma L. Baple, Sara Van Meerbeke, G. Christoph Korenke, Frederico Zara, Barry A. Chioza, Catherine Ward Melver, Manish J. Butte, M. Traverso, Henry Taylor, Marjo S. van der Knaap, Andrew H. Crosby, Matthew Keisling, Joseph S Leslie, Christin Deal, James Fasham, Helen Cox, Ethan M. Scott, Guy Helman, Amber J. McCartney, Yiying Cai, Mamoun Elawad, Tamas Marton, Nicole I. Wolf, Dirk Holzinger, Harold E. Cross, Holm H. Uhlig, Deyana Valcheva, Tamas Balla, Urania Kotzaeridou, Joanna Crawford, Andrea Accogoli, Utkucan Acar, Stephan Tippelt, Dimitris P. Agamanolis, Catherine Walsh Vockley

المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Salter, C G, Cai, Y, Lo, B, Helman, G, Taylor, H, McCartney, A, Leslie, J S, Accogli, A, Zara, F, Traverso, M, Fasham, J, Lees, J A, Ferla, M P, Chioza, B A, Wenger, O, Scott, E, Cross, H E, Crawford, J, Warshawsky, I, Keisling, M, Agamanolis, D, Ward Melver, C, Cox, H, Elawad, M, Marton, T, Wakeling, M N, Holzinger, D, Tippelt, S, Munteanu, M, Valcheva, D, Deal, C, van Meerbeke, S, Walsh Vockley, C, Butte, M J, Acar, U, van der Knaap, M S, Korenke, G C, Kotzaeridou, U, Balla, T, Simons, C, Uhlig, H H, Crosby, A H, de Camilli, P, Wolf, N I & Baple, E L 2021, ' Biallelic PI4KA variants cause neurological, intestinal and immunological disease ', Brain, vol. 144, no. 12, pp. 3597-3610 . https://doi.org/10.1093/brain/awab313
Brain
Brain: a journal of neurology, vol 144, iss 12
Brain, 144(12), 3597-3610. Oxford University Press

مصطلحات موضوعية: Male, Cell type, Primary Immunodeficiency Diseases, Medizin, Intestinal Atresia, Disease, hypomyelinating leukodystrophy, Biology, Inflammatory bowel disease, Polymorphism, Single Nucleotide, Minor Histocompatibility Antigens, chemistry.chemical_compound, medicine, Humans, Phosphatidylinositol, multiple intestinal atresia, Immunodeficiency, Genetics, Kinase, AcademicSubjects/SCI01870, Original Articles, medicine.disease, Phenotype, Pedigree, FAM126A, Hereditary Central Nervous System Demyelinating Diseases, Phosphotransferases (Alcohol Group Acceptor), TTC7A, chemistry, Female, AcademicSubjects/MED00310, Neurology (clinical), PI4KA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e4d2ffb57a785b47391a6347add81c
https://research.vumc.nl/en/publications/e126a072-33f6-48db-9efb-ecd71589d3d8

المؤلفون: Jagoree Roy, John E. Burke, Alexis Z. L. Shih, Anne-Claude Gingras, Péter Várnai, Nicole St-Denis, Gergo Gulyas, Meredith L. Jenkins, Tamas Balla, Elizabeth Conibear, Martha S. Cyert, Matthew A.H. Parson, Idil Ulengin-Talkish

مصطلحات موضوعية: chemistry.chemical_classification, Calcineurin, chemistry.chemical_compound, chemistry, Palmitoylation, Kinase, Phosphatase, Peptide, Phosphatidylinositol, Signal transduction, PI4KA, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e6bff6339c4327f4a491d03cb31fd38
https://doi.org/10.1101/2021.07.14.451536