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: 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: 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: 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

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

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

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

المؤلفون: Cheryl L. Walker, Aristotelis Astrinidis, Timothy P Cash, Deborah S. Hunter, Jonathan Chernoff, Elizabeth P. Henske

المصدر: Oncogene. 21:8470-8476

مصطلحات موضوعية: rho GTP-Binding Proteins, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, RHOA, Tumor suppressor gene, Transfection, Tuberous Sclerosis Complex 1 Protein, Cell Line, Focal adhesion, Tuberous sclerosis, Dogs, Cell Movement, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Cell Adhesion, Genetics, medicine, Animals, Humans, Genes, Tumor Suppressor, Cell adhesion, Molecular Biology, biology, Tumor Suppressor Proteins, Proteins, Cell migration, medicine.disease, Rats, Gene Expression Regulation, Neoplastic, Repressor Proteins, medicine.anatomical_structure, biology.protein, Cancer research, TSC1, TSC2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a33307fca701ea73aeee21de68ebe3cdTest
https://doi.org/10.1038/sj.onc.1205962Test

المؤلفون: Aristotelis Astrinidis, William Senapedis, Elizabeth P. Henske

المصدر: Human molecular genetics. 15(2)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Immunoblotting, Cell Cycle Proteins, Polo-like kinase, Biology, Protein Serine-Threonine Kinases, Cell Fractionation, PLK1, Tuberous Sclerosis Complex 1 Protein, Cell Line, Tuberous sclerosis, Mice, Proto-Oncogene Proteins, Chlorocebus aethiops, Tuberous Sclerosis Complex 2 Protein, Genetics, medicine, Animals, Humans, Immunoprecipitation, Centrosome duplication, Phosphorylation, Molecular Biology, Genetics (clinical), Centrosome, Sirolimus, Cyclin-dependent kinase 1, Tumor Suppressor Proteins, General Medicine, medicine.disease, Flow Cytometry, Cell biology, medicine.anatomical_structure, Microscopy, Fluorescence, Multiprotein Complexes, Mutation, Cancer research, RNA Interference, TSC1, TSC2, CDC2 Protein Kinase, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17cc8f4032059be117f4220620a9fafaTest
https://pubmed.ncbi.nlm.nih.gov/16339216Test