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المؤلفون: Kamyar Zahedi, John J. Bissler, Yirong Yang, Jane J. Yu, Elizabeth P. Henske, Marybeth Brooks, Erik Zhang, Manoocher Soleimani, Sharon Barone
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, TRPP Cation Channels, Medical Sciences, Kidney, Carbonic Anhydrase II, cortical collecting duct, Tuberous Sclerosis Complex 1 Protein, Tuberous sclerosis, Mice, Tuberous Sclerosis, medicine, Animals, Humans, Intercalated Cell, Cyst, Renal Insufficiency, neoplasms, Multidisciplinary, Chemistry, Cysts, Colocalization, Forkhead Transcription Factors, Apical membrane, Biological Sciences, medicine.disease, Molecular biology, nervous system diseases, Disease Models, Animal, Proton-Translocating ATPases, medicine.anatomical_structure, intercalated cells, Mutation, H+-ATPase, TSC1, TSC2, prorenin receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddce769ac5b613e30c770cec24e3b883Test
https://pubmed.ncbi.nlm.nih.gov/33536341Test -
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المؤلفون: Elizabeth P. Henske, Kristine M. Cornejo, Chin-Lee Wu
المصدر: Genes, Vol 12, Iss 1585, p 1585 (2021)
Genesمصطلحات موضوعية: Adult, Male, renal cell carcinoma, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, TFE3, Review, tuberous sclerosis complex, chromophobe RCC, QH426-470, Kidney, urologic and male genital diseases, Tuberous Sclerosis Complex 1 Protein, Renal neoplasm, Tuberous sclerosis, Tuberous Sclerosis, Renal cell carcinoma, Tuberous Sclerosis Complex 2 Protein, Eosinophilic, Biomarkers, Tumor, Genetics, medicine, Humans, Age of Onset, Carcinoma, Renal Cell, neoplasms, Genetics (clinical), Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, business.industry, TOR Serine-Threonine Kinases, eosinophilic solid cystic RCC, medicine.disease, RCC with leiomyomatous stroma, TSC2, TSC1, hybrid oncocytic chromophobe tumor, medicine.anatomical_structure, Mutation, TFEB, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28c3b54a82ffc3b7cdb7774addf9c219Test
https://doi.org/10.3390/genes12101585Test -
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المؤلفون: Elizabeth A. Thiele, Elizabeth P. Henske, Benjamin Stump, Shefali Bagwe, Hilary J. Goldberg, Anthony M. Lamattina, Sergio Poli, Pierce H. Louis, Ivan O. Rosas, Souheil El-Chemaly, Andrew M. Courtwright, Pranav Kidambi, Shikshya Shrestha
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Oncology, lcsh:Medicine, 030105 genetics & heredity, Tuberous Sclerosis Complex 1 Protein, Cohort Studies, Pathogenesis, Tuberous sclerosis, 0302 clinical medicine, Tuberous Sclerosis, DLCO, hemic and lymphatic diseases, Pharmacology (medical), Lymphangioleiomyomatosis, Letter to the Editor, Genetics (clinical), TSC, General Medicine, Middle Aged, Endostatins, medicine.anatomical_structure, Cohort, cardiovascular system, Female, lipids (amino acids, peptides, and proteins), Endostatin, Adult, medicine.medical_specialty, macromolecular substances, 03 medical and health sciences, Internal medicine, Tuberous Sclerosis Complex 2 Protein, medicine, Humans, Gene Silencing, Isolated decrease, Germ-Line Mutation, business.industry, lcsh:R, LAM, bacterial infections and mycoses, medicine.disease, TSC1, TSC2, business, Biomarkers, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fb5a6c71bc5f505a8b998cf82b4758dTest
https://doi.org/10.1186/s13023-019-1050-4Test -
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المؤلفون: Hilaire C. Lam, Elizabeth P. Henske, Brian J. Siroky
المصدر: Nature reviews. Nephrology. 14(11)
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Angiomyolipoma, mTORC1, In Vitro Techniques, Mechanistic Target of Rapamycin Complex 1, Tuberous Sclerosis Complex 1 Protein, 03 medical and health sciences, Tuberous sclerosis, Renal cell carcinoma, Stress, Physiological, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, medicine, Autophagy, Tumor Microenvironment, Animals, Humans, Carcinoma, Renal Cell, Kidney, business.industry, Autosomal dominant trait, Kidney Diseases, Cystic, medicine.disease, Lipid Metabolism, Kidney Neoplasms, nervous system diseases, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Nephrology, Cancer research, TSC1, TSC2, business, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab11b62a0735fdcf8d082f695a17671Test
https://pubmed.ncbi.nlm.nih.gov/30232410Test -
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المؤلفون: Izabela A. Malinowska, Yang Liu, Yuen-Yi Tseng, Trevor J. Pugh, Geraldine A. Finlay, Coyin Oh, Gad Getz, Elizabeth P. Henske, Jaegil Kim, Sabina Signoretti, Chin-Lee Wu, Yvonne Chekaluk, Matthew Meyerson, Krinio Giannikou, Nicola Alesi, David J. Kwiatkowski, Rachel E. Yan, Jesse S. Boehm, Magdalena E. Tyburczy
المساهمون: Broad Institute of MIT and Harvard, Oh, Coyin, Meyerson, Matthew L, Getz, Gad Asher, Boehm, Jesse S
المصدر: PLoS Genetics
PLOS
PLoS Genetics, Vol 12, Iss 8, p e1006242 (2016)مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Angiomyolipoma, Carcinogenesis, Loss of Heterozygosity, Tuberous Sclerosis Complex 1 Protein, Loss of heterozygosity, Tuberous sclerosis, Medicine and Health Sciences, Exome, Lymphangioleiomyomatosis, Genetics (clinical), Exome sequencing, BAP1, High-Throughput Nucleotide Sequencing, Nonsense Mutation, Genomics, Kidney Neoplasms, Deletion Mutation, Female, Anatomy, Research Article, Adult, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Biology, 03 medical and health sciences, Germline mutation, Tuberous Sclerosis Complex 2 Protein, medicine, Genetics, Humans, Point Mutation, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Germ-Line Mutation, Tumor Suppressor Proteins, Biology and Life Sciences, Computational Biology, Kidneys, Human Genetics, Renal System, medicine.disease, Genome Analysis, nervous system diseases, lcsh:Genetics, 030104 developmental biology, Mutation, Cancer research, Somatic Mutation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afdc2c6d2d3701d9734fa207302ef4bbTest
https://pubmed.ncbi.nlm.nih.gov/27494029Test -
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المؤلفون: Elizabeth P. Henske, Sergiusz Jóźwiak, J. Christopher Kingswood, Elizabeth A. Thiele, Julian R. Sampson
المصدر: Nature reviews. Disease primers. 2
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Angiomyolipoma, Bioinformatics, Kidney, Tuberous Sclerosis Complex 1 Protein, 03 medical and health sciences, Tuberous sclerosis, 0302 clinical medicine, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, medicine, Humans, Lymphangioleiomyomatosis, Mechanistic target of rapamycin, Lung, PI3K/AKT/mTOR pathway, Skin, Epilepsy, biology, business.industry, Tumor Suppressor Proteins, Brain, General Medicine, medicine.disease, Tuberous sclerosis protein, 030104 developmental biology, medicine.anatomical_structure, biology.protein, TSC1, TSC2, business, Tomography, X-Ray Computed, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4940fe268d77f1aaad08b7bd95612edTest
https://pubmed.ncbi.nlm.nih.gov/27226234Test -
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المؤلفون: Yan Zhou, Krinio Giannikou, Santosh Bonala, Marco Peronaci, Maciej M. Markiewski, Sasikanth Manne, Brandon White, Hossein Mansouri, Shanawaz M. Ghouse, Jun-Hung Cho, David J. Kwiatkowski, Fabrice Roegiers, Jalpa Patel, Magdalena Karbowniczek, Bhaumik Patel, Surya Kumari Vadrevu, Elizabeth P. Henske
المصدر: Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Angiomyolipoma, Lung Neoplasms, Science, Cellular differentiation, General Physics and Astronomy, Mice, Transgenic, Mice, SCID, General Biochemistry, Genetics and Molecular Biology, Tuberous Sclerosis Complex 1 Protein, Article, 03 medical and health sciences, Tuberous sclerosis, Transactivation, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, medicine, Null cell, Animals, Humans, Lymphangioleiomyomatosis, Receptor, Notch1, lcsh:Science, Promoter Regions, Genetic, Progenitor, Multidisciplinary, biology, Tumor Suppressor Proteins, Cell Differentiation, General Chemistry, medicine.disease, Xenograft Model Antitumor Assays, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Neural Crest, biology.protein, Transcription Factor HES-1, lcsh:Q, Female, Ras Homolog Enriched in Brain Protein, TSC1, RHEB
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::415a8a67a9167e5d39917dae272cdc33Test
https://pubmed.ncbi.nlm.nih.gov/29184052Test -
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المؤلفون: Elizabeth P. Henske, Nicole A. Neuman
المصدر: EMBO Molecular Medicine
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Rheb, lymphangioleiomyomatosis, tuberous sclerosis complex, Tuberous Sclerosis Complex 1 Protein, Tuberous sclerosis, Tuberous Sclerosis, non-canonical, Tuberous Sclerosis Complex 2 Protein, medicine, Animals, Humans, In Focus, PI3K/AKT/mTOR pathway, Monomeric GTP-Binding Proteins, biology, TOR Serine-Threonine Kinases, Tumor Suppressor Proteins, Neuropeptides, medicine.disease, nervous system diseases, Tuberous sclerosis protein, medicine.anatomical_structure, Biochemistry, Lymphangioleiomyomatosis, mTOR, biology.protein, Molecular Medicine, Ras Homolog Enriched in Brain Protein, TSC1, TSC2, Neuroscience, Signal Transduction, RHEB
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0448639bd3ca7ae226b3c9d179c653Test
https://doi.org/10.1002/emmm.201100131Test -
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المؤلفون: Katherine L. Nathanson, Elizabeth P. Henske, Peter B. Crino
المصدر: New England Journal of Medicine. 355:1345-1356
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Genetic Linkage, Tuberous Sclerosis Complex 1 Protein, Tuberous sclerosis, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Subependymal nodules, Humans, Medicine, Subependymal giant cell astrocytoma, business.industry, Extramural, TOR Serine-Threonine Kinases, Tumor Suppressor Proteins, Tuberous receptor, Estrogens, General Medicine, medicine.disease, Tuberous sclerosis protein, medicine.anatomical_structure, Mutation, Female, TSC1, TSC2, business, Protein Kinases, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3498be3b2c843f1a89854961aa92a21Test
https://doi.org/10.1056/nejmra055323Test -
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المؤلفون: Elizabeth P. Henske
المصدر: Genes, Chromosomes and Cancer. 38:376-381
مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, Lung Neoplasms, Disease, Biology, Tuberous Sclerosis Complex 1 Protein, Metastasis, Tuberous sclerosis, Tuberous Sclerosis, immune system diseases, hemic and lymphatic diseases, Tuberous Sclerosis Complex 2 Protein, Parenchyma, Genetics, medicine, Animals, Humans, Small GTPase, Lymphangioleiomyomatosis, Tumor Suppressor Proteins, Proteins, Cell migration, bacterial infections and mycoses, medicine.disease, Repressor Proteins, medicine.anatomical_structure, Immunology, lipids (amino acids, peptides, and proteins), TSC1, TSC2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4f943ced228fe2918585d81a61d4ceTest
https://doi.org/10.1002/gcc.10252Test