Works matching DE "TUBERIN"
Results: 34
May the Force move you: TSC-ing the mechanical activation of mTOR.
- Published in:
- Journal of Physiology, 2013, v. 591, n. 18, p. 4369, doi. 10.1113/jphysiol.2013.260216
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- Publication type:
- Article
Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study.
- Published in:
- 2017
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- Publication type:
- journal article
Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 12, p. 1207, doi. 10.1111/dmcn.12523
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- Publication type:
- Article
Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 12, p. 1134, doi. 10.1111/dmcn.12537
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- Publication type:
- Article
13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodular pneumocyte hyperplasia.
- Published in:
- 2013
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- Publication type:
- Case Study
Tuberous Sclerosis Presenting With Acute Kidney Failure, Pyelonephritis, and Polycystic Kidney Disease.
- Published in:
- Iranian Journal of Kidney Diseases, 2014, v. 8, n. 4, p. 336
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- Publication type:
- Article
Tuberous sclerosis complex: Recent advances in manifestations and therapy.
- Published in:
- International Journal of Urology, 2017, v. 24, n. 9, p. 681, doi. 10.1111/iju.13390
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- Publication type:
- Article
Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex.
- Published in:
- 2018
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- Publication type:
- Case Study
Suppressed Expression of Autophagosomal Protein LC3 in Cortical Tubers of Tuberous Sclerosis Complex.
- Published in:
- Brain Pathology, 2013, v. 23, n. 3, p. 254, doi. 10.1111/j.1750-3639.2012.00634.x
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- Publication type:
- Article
Subependymal giant cell astrocytoma, hereditary versus solitary: clinical, morphological, and immunophenotypic characterization.
- Published in:
- Revista Mexicana de Neurociencia, 2024, v. 25, n. 3, p. 66, doi. 10.24875/RMN.23000074
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- Publication type:
- Article
Transgenic expression of the N525S-tuberin variant in Tsc2 mutant (Eker) rats causes dominant embryonic lethality.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep05927
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- Publication type:
- Article
mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the Down-Regulation of Autophagy.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0152628
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- Publication type:
- Article
Importance of tuberin in carcinogenesis (Review).
- Published in:
- Oncology Letters, 2017, v. 14, n. 3, p. 2598, doi. 10.3892/ol.2017.6490
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- Publication type:
- Article
Tuberin and p27 expression in breast cancer patients with or without BRCA germline mutations.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2013, v. 139, n. 8, p. 1349, doi. 10.1007/s00432-013-1443-z
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- Publication type:
- Article
Subependymal giant cell astrocytoma: current concepts, management, and future directions.
- Published in:
- Child's Nervous System, 2014, v. 30, n. 4, p. 561, doi. 10.1007/s00381-014-2383-x
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- Publication type:
- Article
Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86.
- Published in:
- Child's Nervous System, 2014, v. 30, n. 2, p. 227, doi. 10.1007/s00381-013-2185-6
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- Publication type:
- Article
Cell signalling: A peroxisomal home for TSC.
- Published in:
- Nature Reviews Molecular Cell Biology, 2013, v. 14, n. 10, p. 609, doi. 10.1038/nrm3661
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- Publication type:
- Article
Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del <italic>TSC2</italic> mutation.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Clinical manifestations of tuberous sclerosis complex.
- Published in:
- Eastern Journal of Medicine, 2013, v. 18, n. 2, p. 52
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- Publication type:
- Article
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
TSC on the peroxisome controls mTORC1.
- Published in:
- Nature Cell Biology, 2013, v. 15, n. 10, p. 1135, doi. 10.1038/ncb2849
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- Publication type:
- Article
Diseases of the nervous system: The complexity of compensation.
- Published in:
- Nature Medicine, 2013, v. 19, n. 10, p. 1220, doi. 10.1038/nm.3377
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- Publication type:
- Article
Upregulation of C/EBPβ and TSC2 by an HDAC inhibitor CG200745 protects heart from DOCA‐induced hypertrophy.
- Published in:
- Clinical & Experimental Pharmacology & Physiology, 2019, v. 46, n. 3, p. 226, doi. 10.1111/1440-1681.13022
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- Publication type:
- Article
Lymphangioleiomyomatosis: differential diagnosis and optimal management.
- Published in:
- Therapeutics & Clinical Risk Management, 2014, v. 10, p. 691, doi. 10.2147/TCRM.S50784
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- Publication type:
- Article
Evidence of Ambiguous Differentiation and mTOR Pathway Dysregulation in Subependymal Giant Cell Astrocytoma.
- Published in:
- Turkish Journal of Pathology, 2012, v. 28, n. 2, p. 95, doi. 10.5146/tjpath.2012.01107
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- Publication type:
- Article
Tuberous-sclerosis complex-related cell signaling in the pathogenesis of lung cancer.
- Published in:
- Diagnostic Pathology, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1746-1596-9-48
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- Publication type:
- Article
The genetic basis of obesity-associated type 2 diabetes (diabesity) in polygenic mouse models.
- Published in:
- Mammalian Genome, 2014, v. 25, n. 9/10, p. 401, doi. 10.1007/s00335-014-9514-2
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- Publication type:
- Article
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62759-5
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- Publication type:
- Article
The Tuberin and Cyclin B1 complex functions as a novel G2/M sensor of serum conditions and Akt signaling.
- Published in:
- PLoS ONE, 2019, v. 14, n. 01, p. 1, doi. 10.1371/journal.pone.0210612
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- Publication type:
- Article
Rapamycin-independent IGF2 expression in Tsc2-null mouse embryo fibroblasts and human lymphangioleiomyomatosis cells.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197105
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- Publication type:
- Article
Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.
- Published in:
- Biologics: Targets & Therapy, 2013, v. 7, p. 211, doi. 10.2147/BTT.S25095
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- Publication type:
- Article
Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex:: Considerations for Surgical or Pharmacotherapeutic Intervention.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 11, p. 1562, doi. 10.1177/0883073813501870
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- Publication type:
- Article
Congenital Segmental Lymphedema in Tuberous Sclerosis Complex With Associated Subependymal Giant Cell Astrocytomas Treated with Mammalian Target of Rapamycin Inhibitors.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 9, p. NP54, doi. 10.1177/0883073813499969
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- Publication type:
- Article
Mammalian Target of Rapamycin Regulates Nox4-Mediated Podocyte Depletion in Diabetic Renal Injury.
- Published in:
- Diabetes, 2013, v. 62, n. 8, p. 2935, doi. 10.2337/db12-1504
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- Publication type:
- Article