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

المؤلفون: Barbara Ogorek, Richard I. Gregory, Hilaire C. Lam, Julie Nijmeh, Damir Khabibullin, Heng-Jia Liu, Robinson Triboulet, David J. Kwiatkowski, Elizabeth P. Henske

المصدر: Human Molecular Genetics. 27:1654-1663

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Immunoblotting, mTORC1, Mechanistic Target of Rapamycin Complex 1, Biology, Tuberous Sclerosis Complex 1 Protein, Mice, 03 medical and health sciences, Downregulation and upregulation, Tuberous Sclerosis Complex 2 Protein, microRNA, Genetics, medicine, Animals, Humans, RNA, Small Interfering, Molecular Biology, Genetics (clinical), PI3K/AKT/mTOR pathway, Drosha, Cell Proliferation, Glycogen Synthase Kinase 3 beta, TOR Serine-Threonine Kinases, Autosomal dominant trait, Articles, General Medicine, nervous system diseases, Cell biology, MicroRNAs, 030104 developmental biology, medicine.anatomical_structure, TSC1, TSC2, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f73e00f8575e5fcbec40c5132cb46c7cTest
https://doi.org/10.1093/hmg/ddy073Test

المؤلفون: Elizabeth P. Henske, Kristine M. Cornejo, Chin-Lee Wu

المصدر: Genes, Vol 12, Iss 1585, p 1585 (2021)
Genes

مصطلحات 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

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 Diseases

مصطلحات 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

المؤلفون: Jun-Hung, Cho, Bhaumik, Patel, Santosh, Bonala, Hossein, Mansouri, Sasikanth, Manne, Surya Kumari, Vadrevu, Shanawaz, Ghouse, Che-Pei, Kung, Maureen E, Murphy, Aristotelis, Astrinidis, Elizabeth P, Henske, David J, Kwiatkowski, Maciej M, Markiewski, Magdalena, Karbowniczek

المصدر: Mol Cancer Res

مصطلحات موضوعية: Epithelial-Mesenchymal Transition, Carcinogenesis, Nodal Protein, Angiomyolipoma, Polymorphism, Single Nucleotide, Kidney Neoplasms, Tuberous Sclerosis Complex 1 Protein, Article, Gene Expression Regulation, Neoplastic, Mice, Cell Movement, Tuberous Sclerosis, Mutation, Tumor Cells, Cultured, Animals, Humans, Receptor, Notch1, Tumor Suppressor Protein p53, neoplasms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::69319a527703408ddc1a9e6db7cfec40Test
https://pubmed.ncbi.nlm.nih.gov/31088907Test

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

المؤلفون: Patrick H. Lizotte, Heng Du, Spencer Vaughan, Arlene H. Sharpe, Hilaire C. Lam, Heng-Jia Liu, Maria C. Speranza, Gordon J. Freeman, Kwok-Kin Wong, Elizabeth P. Henske, Nicola Alesi

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_treatment, T cell, T-Lymphocytes, Angiomyolipoma, Programmed Cell Death 1 Receptor, mTORC1, Mechanistic Target of Rapamycin Complex 1, Tuberous Sclerosis Complex 1 Protein, Benign tumor, 03 medical and health sciences, Tuberous sclerosis, Mice, 0302 clinical medicine, Cancer immunotherapy, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, medicine, Tumor Microenvironment, Animals, CTLA-4 Antigen, Lymphangioleiomyomatosis, business.industry, General Medicine, Immunotherapy, medicine.disease, Blockade, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, Urinary Bladder Neoplasms, 030220 oncology & carcinogenesis, Mutation, Cancer research, Drug Therapy, Combination, business, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fd76259d53b6a4026a965c5a87dcacdTest
https://europepmc.org/articles/PMC5931128Test/

المؤلفون: Jean-Yves Scoazec, Eric N. Olson, Mario Pende, Nicolas Pallet, Fabiola Terzi, Elizabeth P. Henske, Udayan Apte, Hilaire C. Lam, Randy L. Johnson, Patricia E Dill, Vonda Koka, Ning Liang, Chi Zhang, David J. Kwiatkowski, Delphine Pion, Morgan Gallazzini, Zheng Dong, Guido Martignoni, Ganna Panasyuk

المصدر: The Journal of Experimental Medicine

مصطلحات موضوعية: Autophagosome, 1-TSC2-mammalian target of Rapamycin (mTOR), congenital, hereditary, and neonatal diseases and abnormalities, Porphyrins, Cell Survival, Angiomyolipoma, Immunology, Apoptosis, Cell Cycle Proteins, Biology, Kidney, Article, Tuberous Sclerosis Complex 1 Protein, Mice, Tuberous Sclerosis, tuberous sclerosis complex (TSC), Hippo-Yes-associated protein 1 (YAP), Autophagy, medicine, Animals, Humans, Immunology and Allergy, PI3K/AKT/mTOR pathway, Adaptor Proteins, Signal Transducing, Cell Proliferation, Mice, Knockout, Cell growth, TOR Serine-Threonine Kinases, Tumor Suppressor Proteins, RPTOR, Verteporfin, Kidney metabolism, YAP-Signaling Proteins, Cell Biology, Phosphoproteins, Immunohistochemistry, nervous system diseases, Up-Regulation, Cell biology, Disease Models, Animal, medicine.anatomical_structure, Gene Expression Regulation, TSC1, Signal transduction, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6e7261a897a97882a0bc085a504aa0Test
https://doi.org/10.1084/jem.20140341Test

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

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