المؤلفون: Elise Marsan, Dmitry Velmeshev, Arren Ramsey, Ravi K. Patel, Jiasheng Zhang, Mark Koontz, Madeline G. Andrews, Martina de Majo, Cristina Mora, Jessica Blumenfeld, Alissa N. Li, Salvatore Spina, Lea T. Grinberg, William W. Seeley, Bruce L. Miller, Erik M. Ullian, Matthew F. Krummel, Arnold R. Kriegstein, Eric J. Huang

المصدر: The Journal of clinical investigation, vol 133, iss 6

مصطلحات موضوعية: Aging, Immunology, Neurodegenerative, Alzheimer's Disease, Medical and Health Sciences, Mice, Progranulins, Rare Diseases, Acquired Cognitive Impairment, Animals, Humans, 2.1 Biological and endogenous factors, Neurodegeneration, Aetiology, Alzheimer's Disease Related Dementias (ADRD), Molecular pathology, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), General Medicine, Brain Disorders, Frontotemporal Dementia (FTD), Astrocytes, Frontotemporal Dementia, Mutation, Neurological, Intercellular Signaling Peptides and Proteins, Dementia, Frontotemporal Lobar Degeneration, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f196309a3bb8d5e1c83e0eabf72c75Test
https://doi.org/10.1172/jci164919Test

المؤلفون: Maurizio Del Poeta, Michael C. Seeds, Chiara Luberto, Stefano Guerra, Floyd H. Chilton, Yusuf A. Hannun, Christian Bime, Ryan Sprissler, Ashley J. Snider, Jeehyun Karen You, Qiuming Wang, Susan Sergeant, Laurel Johnstone, Hao Helen Zhang, Guang Yao, Karen Lutrick, Charles E. McCall, Tara F. Carr, Brian Hallmark, Richard R. Kew, Manja Zec, Xia Wang, Sairam Parthasarathy, Justin M. Snider

المصدر: J Clin Invest

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Inflammation, Group II Phospholipases A2, Severity of Illness Index, Gastroenterology, Disease-Free Survival, Internal medicine, Severity of illness, Humans, Medicine, Child, Survival rate, Blood urea nitrogen, Aged, Aged, 80 and over, SARS-CoV-2, business.industry, Molecular pathology, Organ dysfunction, COVID-19, General Medicine, Middle Aged, Hypoxia (medical), Survival Rate, Cohort, Female, medicine.symptom, business, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c414bd7a7c4e7ddba5c0c5b9cb29fb2Test
https://doi.org/10.1172/jci149236Test

المؤلفون: David J. Orlicky, Dean R. Tolan, Nanxing Li, Richard J. Johnson, Christina Cicerchi, Michael F. Wempe, Tamara Milagres, Cholsoon Jang, Ana Andres-Hernando, Masanari Kuwabara, Miguel A. Lanaspa, Joshua D. Rabinowitz

المصدر: The Journal of clinical investigation, vol 128, iss 6

مصطلحات موضوعية: 0301 basic medicine, Hereditary fructose intolerance, Medical and Health Sciences, Oral and gastrointestinal, Mice, chemistry.chemical_compound, 0302 clinical medicine, Fructose-Bisphosphate Aldolase, 2.1 Biological and endogenous factors, Hyperuricemia, Aetiology, Mice, Knockout, biology, Liver Disease, Fatty liver, General Medicine, Fructose Intolerance, Isoenzymes, Research Article, Genetic diseases, medicine.medical_specialty, Knockout, Immunology, 030209 endocrinology & metabolism, Fructose, Hypoglycemia, Fructokinases, 03 medical and health sciences, Rare Diseases, Internal medicine, Genetics, medicine, Animals, Metabolic and endocrine, Nutrition, Molecular pathology, business.industry, Aldolase B, Fanconi syndrome, medicine.disease, Metabolism, Orphan Drug, 030104 developmental biology, Endocrinology, chemistry, biology.protein, Metabolic syndrome, Digestive Diseases, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c57a64da066a24aa4ae0aaeedcf634bTest
https://doi.org/10.1172/jci94427Test

المؤلفون: Tomas Hejhal, Laura P Brandt, Philipp Busenhart, Simone Brandt, Holger Lehmann, Ana Filipa Gonçalves, Joachim Albers, Claudia Danzer, Beata Bode-Lesniewska, Ian J. Frew, Antonella Catalano, Peter K. Bode, Markus Rechsteiner, Peter J. Wild

المساهمون: University of Zurich, Frew, Ian J

المصدر: The Journal of clinical investigation

مصطلحات موضوعية: CRISPR-Associated Proteins, Genetic Vectors, Drug Resistance, 610 Medicine & health, Apoptosis, 2700 General Medicine, Mice, SCID, Computational biology, Gene mutation, Retinoblastoma Protein, 10052 Institute of Physiology, Mice, Transduction (genetics), Transduction, Genetic, 10049 Institute of Pathology and Molecular Pathology, Gene Knockdown Techniques, Animals, Humans, CRISPR, Tensin, PTEN, Clustered Regularly Interspaced Short Palindromic Repeats, Cloning, Molecular, RNA, Small Interfering, Gene, Cells, Cultured, Recombination, Genetic, Genetics, Gene knockdown, biology, Lentivirus, PTEN Phosphohydrolase, General Medicine, Hypoxia-Inducible Factor 1, alpha Subunit, Xenograft Model Antitumor Assays, Technical Advance, 10076 Center for Integrative Human Physiology, Doxycycline, biology.protein, Sarcoma, Experimental, CRISPR-Cas Systems, Tumor Suppressor Protein p53, Gene Deletion

وصف الملف: Albers_JCI_2015.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b39683c1717653587c81712c9033daaTest
https://doi.org/10.1172/jci79743Test

المؤلفون: Robin W. Carrell

المصدر: Journal of Clinical Investigation. 78:1427-1431

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Alpha 1-antitrypsin deficiency, Neutrophils, Molecular pathology, Chemistry, Alpha (ethology), General Medicine, medicine.disease, alpha 1-Antitrypsin, alpha 1-Antitrypsin Deficiency, Tissue damage, medicine, Humans, Genetic Engineering, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::376f6a01d5e0e5adec8df2676c664e50Test
https://doi.org/10.1172/jci112731Test