Tuberous sclerosis complex: neurological, renal and pulmonary manifestations - Wikidata - awgldk - TriplyDB

Tuberous sclerosis complex: neurological, renal and pulmonary manifestations

Tuberous sclerosis complex: neurological, renal and pulmonary manifestations

http://www.wikidata.org/entity/Q36239644

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Real-time monitoring of tumorigenesis, dissemination, & drug response in a preclinical model of lymphangioleiomyomatosis/tuberous sclerosis complex Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy Prevention of alveolar destruction and airspace enlargement in a mouse model of pulmonary lymphangioleiomyomatosis (LAM)Tuberous sclerosis complex: perioperative considerations.Supernumerary centrosomes nucleate extra cilia and compromise primary cilium signaling TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients.Reduced juvenile long-term depression in tuberous sclerosis complex is mitigated in adults by compensatory recruitment of mGluR5 and Erk signaling.Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals.Deconvoluting mTOR biology Association between the growth rate of subependymal giant cell astrocytoma and age in patients with tuberous sclerosis complex.Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study.EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex Imaging Manifestations of a Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis A Case of Tuberous Sclerosis Without Multiorgan Involvement Pharmacokinetics and pharmacodynamics of everolimus in patients with renal angiomyolipoma and tuberous sclerosis complex or lymphangioleiomyomatosis.The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation.Molecular therapies for tuberous sclerosis and neurofibromatosis.Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.Subependymal giant cell astrocytomas in patients with tuberous sclerosis complex: considerations for surgical or pharmacotherapeutic intervention.mTOR controls kidney epithelia in health and disease.Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.Tuberous sclerosis complex: the past and the future.Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial.Clinical predictors of mortality and cause of death in lymphangioleiomyomatosis: a population-based registry.Lymphangioleiomyomatosis: New Treatment Perspectives.Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink.Tsc2 disruption in mesenchymal progenitors results in tumors with vascular anomalies overexpressing Lgals3.Importance of tuberin in carcinogenesis.Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases Potential of mTOR inhibitors for the treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.Concurrent angiomyolipomas and renal cell neoplasms in patients without tuberous sclerosis: a retrospective study.Treatment effect of mTOR-inhibition on tissue composition of renal angiomyolipomas in tuberous sclerosis complex (TSC).The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.

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P2860

Tuberous sclerosis complex: neurological, renal and pulmonary manifestations

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Tuberous sclerosis complex: neurological, renal and pulmonary manifestations

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Tuberous sclerosis complex: neurological, renal and pulmonary manifestations

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Tuberous sclerosis complex: neurological, renal and pulmonary manifestations

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D N Franz

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F X McCormack

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J J Bissler

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P2860

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

Identification and characterization of the tuberous sclerosis gene on chromosome 16

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

Levels of mTOR and its downstream targets 4E-BP1, eEF2, and eEF2 kinase in relationships with tau in Alzheimer's disease brain

MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

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