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: 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: 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

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: Warren D. Kruger, Jay H. Ryu, Eugene J. Sullivan, Elizabeth P. Henske, Galina D. Strizheva, Thomas Carsillo

المصدر: American journal of respiratory and critical care medicine. 163(1)

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Gene mutation, Biology, Critical Care and Intensive Care Medicine, medicine.disease_cause, Tuberous Sclerosis Complex 1 Protein, Tuberous sclerosis, Exon, Germline mutation, immune system diseases, Tuberous Sclerosis, hemic and lymphatic diseases, Tuberous Sclerosis Complex 2 Protein, medicine, Missense mutation, Humans, Genes, Tumor Suppressor, Lymphangioleiomyomatosis, Mutation, Tumor Suppressor Proteins, Proteins, Exons, Sequence Analysis, DNA, bacterial infections and mycoses, medicine.disease, Repressor Proteins, medicine.anatomical_structure, Cancer research, lipids (amino acids, peptides, and proteins), Female, TSC1, TSC2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1d2c319599be5ea43207f69fa368e4Test
https://pubmed.ncbi.nlm.nih.gov/11208653Test