المؤلفون: Eleonora Scorletti, Yedidya Saiman, Sookyoung Jeon, Carolin V. Schneider, Delfin G. Buyco, Chelsea Lin, Blanca E. Himes, Clementina A. Mesaros, Marijana Vujkovic, Kate Townsend Creasy, Emma E. Furth, Jeffrey T. Billheimer, Nicholas J. Hand, David E. Kaplan, Kyong-Mi Chang, Philip S. Tsao, Julie A. Lynch, Joseph L. Dempsey, Julia Harkin, Susovon Bayen, Donna Conlon, Marie Guerraty, Michael C. Phillips, Daniel J. Rader, Rotonya M. Carr

المصدر: JHEP Reports, Vol 6, Iss 1, Pp 100902- (2024)

مصطلحات موضوعية: NAFLD, Lipid droplets, Perilipin, DGAT2, triglycerides, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589555923002331; https://doaj.org/toc/2589-5559

URL الوصول: https://doaj.org/article/0f2aac76aa174d06be32dcaf8efba46a

المؤلفون: Lars E. Larsen, Marjolein A.W. van den Boogert, Wilson A. Rios-Ocampo, Jos C. Jansen, Donna Conlon, Patrick L.E. Chong, J. Han M. Levels, Roos E. Eilers, Vinay V. Sachdev, Noam Zelcer, Tobias Raabe, Miao He, Nicholas J. Hand, Joost P.H. Drenth, David J. Rader, Eric S.G. Stroes, Dirk J. Lefeber, Johan W. Jonker, Adriaan G. Holleboom

المصدر: Cellular and Molecular Gastroenterology and Hepatology, Vol 13, Iss 2, Pp 583-597 (2022)

مصطلحات موضوعية: V-ATPase assembly defects, Lipophagy, Lipid droplet, Fatty liver disease, NAFLD, Hyperlipidemia, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352345X21002034; https://doaj.org/toc/2352-345X

URL الوصول: https://doaj.org/article/f83a6ee89be64fb6964bdd0493f8352e

المؤلفون: Deepti Abbey, Donna Conlon, Christopher Rainville, Susannah Elwyn, Katherine Quiroz‐Figueroa, Jeffrey Billheimer, David C. Schultz, Nicholas J. Hand, Sara Cherry, Daniel J. Rader

المصدر: Clinical and Translational Science, Vol 14, Iss 4, Pp 1369-1379 (2021)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-8054; https://doaj.org/toc/1752-8062

URL الوصول: https://doaj.org/article/b112e81aa3844aa0a2a202a30036c4e6

المؤلفون: Donna M. Conlon, Carolin V. Schneider, Yi-An Ko, Amrith Rodrigues, Kathy Guo, Nicholas J. Hand, Daniel J. Rader

المصدر: The Journal of Clinical Investigation, Vol 132, Iss 6 (2022)

مصطلحات موضوعية: Genetics, Vascular biology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/0af7b8d00cb24cf5aeabcd9ab4fe24f7

المؤلفون: Deepti Abbey, Susannah Elwyn, Nicholas J. Hand, Kiran Musunuru, Daniel J. Rader

المصدر: Hepatology Communications, Vol 4, Iss 9, Pp 1316-1331 (2020)

مصطلحات موضوعية: Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2471-254X

URL الوصول: https://doaj.org/article/9c41edd5bcb54c81856caaa2124b409f

المؤلفون: Claire L. Le Guen, Joshua R. Friedman, Nicholas J. Hand

المصدر: F1000Research, Vol 2 (2013)

مصطلحات موضوعية: Control of Gene Expression, Developmental Molecular Mechanisms, Medicine, Science

وصف الملف: electronic resource

Relation: http://f1000research.com/articles/2-197/v1; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/20d4c7cc58524008ba891a1f88e80d5a

المؤلفون: Xin Bi, Sylvia Stankov, Paul C. Lee, Ziyi Wang, Xun Wu, Li Li, Yi-An Ko, Lan Cheng, Hanrui Zhang, Nicholas J. Hand, Daniel J. Rader

المصدر: Arteriosclerosis, Thrombosis, and Vascular Biology. 42:1139-1151

مصطلحات موضوعية: Male, Mice, Inbred C57BL, Mice, Knockout, Mice, Macrophages, Cholesterol, HDL, Animals, Female, Coronary Artery Disease, Atherosclerosis, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a2c7f1efc4f6265161b25e07cf79c8
https://doi.org/10.1161/atvbaha.121.317156

المؤلفون: Kate Townsend Creasy, Minal B. Mehta, Joseph Park, Carolin V. Schneider, Swapnil V. Shewale, John S. Millar, Nicholas J. Hand, Joseph A. Baur, Daniel J. Rader

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b412e147e5f06d1d6bad2c9bbc8bc442
https://doi.org/10.1101/2023.03.04.529958

المؤلفون: Ana Berta Sousa, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas J. Hand, Kosuke Izumi, Paula Jorge, Andrew C. Edmondson, Elisa De Franco, Linlea Armstrong, Michael E. March, Dirk Lefeber, Hans van Bokhoven, Miao He, Sian Ellard, Marina P Hommersom, Serwet Demirdas, Elaine H. Zackai, Fleur S van Dijk, Anna Lehman, Avni Santani, Daniel L. Polla, Daniel J. Rader, Arjan P.M. de Brouwer, Sandrine Duvet, Xin Bi, Sophie C. Huffels, Dmitriy Niyazov, Céline Schulz

المساهمون: Clinical Genetics, Repositório da Universidade de Lisboa

المصدر: American Journal of Human Genetics, 108(7), 1342-1349. Cell Press
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genet

مصطلحات موضوعية: Male, Glycosylation, Mouse, Developmental Disabilities, Endoplasmic Reticulum, Compound heterozygosity, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 0302 clinical medicine, EIF2AK3, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Tunicamycin, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Mannosidase, Child, Preschool, N-glycan, Female, Adolescent, Biology, Cell Line, 03 medical and health sciences, Polysaccharides, alpha-Mannosidase, Intellectual Disability, Report, Genetics, medicine, Humans, Proteostasis Deficiencies, Gene, Alleles, Glycoproteins, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Endoplasmic reticulum, Calcium-Binding Proteins, Infant, medicine.disease, Molecular biology, carbohydrates (lipids), Dysmorphism, chemistry, Mutation, Unfolded protein response, High-mannose, CDG, EDEM3, Congenital disorder of glycosylation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de7e535ef91859e8db4ea8ac1e4f021
https://doi.org/10.1016/j.ajhg.2021.05.010

المؤلفون: Daniel J. Rader, Donna M. Conlon, David C. Schultz, Sara Cherry, Nicholas J. Hand, Christopher Rainville, Deepti Abbey, Susannah Elwyn, Katherine Quiroz-Figueroa, Jeffrey T. Billheimer

المصدر: Clinical and Translational Science
Clinical and Translational Science, Vol 14, Iss 4, Pp 1369-1379 (2021)

مصطلحات موضوعية: 030213 general clinical medicine, Small interfering RNA, Phosphatase, Regulator, RM1-950, 030226 pharmacology & pharmacy, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), Cell Line, Tumor, Lipid droplet, Humans, General Pharmacology, Toxicology and Pharmaceutics, Triglycerides, Adaptor Proteins, Signal Transducing, Gene knockdown, Chemistry, Kinase, Research, General Neuroscience, Nuclear Proteins, Signal transducing adaptor protein, Articles, Lipid Droplets, General Medicine, Lipid Metabolism, High-Throughput Screening Assays, Cell biology, Fatty Liver, Gene Knockdown Techniques, Hepatocytes, lipids (amino acids, peptides, and proteins), Therapeutics. Pharmacology, Public aspects of medicine, RA1-1270

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::527ce13a61699749ac1e86cf189e0b1f
https://doi.org/10.1111/cts.12988