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1
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 -
2
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 -
3
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 -
4
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 -
5
المؤلفون: Elizabeth P. Henske
المصدر: Pediatric nephrology (Berlin, Germany). 20(7)
مصطلحات موضوعية: Nephrology, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Angiomyolipoma, urologic and male genital diseases, Tuberous Sclerosis Complex 1 Protein, Tuberous sclerosis, Renal cell carcinoma, Tuberous Sclerosis, Internal medicine, Tuberous Sclerosis Complex 2 Protein, medicine, Polycystic kidney disease, Humans, Kidney, business.industry, Tumor Suppressor Proteins, Carcinoma, medicine.disease, Kidney Neoplasms, nervous system diseases, Repressor Proteins, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Mutation, Cancer research, TSC1, TSC2, business, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5f59699cf71f475c4f2929779385b6Test
https://pubmed.ncbi.nlm.nih.gov/15856327Test -
6
المصدر: The Lancet. 361:1348-1349
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Angiomyolipoma, P70-S6 Kinase 1, Biology, Kidney, Tuberous Sclerosis Complex 1 Protein, Immunoenzyme Techniques, Mice, Tuberous sclerosis, Tuberous Sclerosis, Internal medicine, Tuberous Sclerosis Complex 2 Protein, medicine, Animals, Humans, Phosphorylation, Protein Kinase Inhibitors, Germ-Line Mutation, Sirolimus, Antibiotics, Antineoplastic, TOR Serine-Threonine Kinases, Tumor Suppressor Proteins, Proteins, Ribosomal Protein S6 Kinases, 70-kDa, food and beverages, General Medicine, medicine.disease, Kidney Neoplasms, Repressor Proteins, Tuberous sclerosis protein, medicine.anatomical_structure, Endocrinology, Cancer research, TSC1, TSC2, Protein Kinases, Cell Division, Signal Transduction, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dbc4971e98145f0ee8f0a3b31bdc796Test
https://doi.org/10.1016/s0140-6736Test(03)13044-9