Search Results - "Bissler, J. J."
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Renal manifestation of tuberous sclerosis complex
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-09-2018)“…Tuberous sclerosis complex (TSC) is a tumor predisposition syndrome with significant renal cystic and solid tumor disease. It commonly causes several types of…”
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Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study
Published in PloS one (09-08-2017)“…We examined the long-term effects of everolimus in patients with renal angiomyolipoma associated with tuberous sclerosis complex or sporadic…”
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Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management
Published in American journal of respiratory and critical care medicine (15-09-2016)“…Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that primarily affects women. The purpose of these guidelines is to provide recommendations for…”
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Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial
Published in The Lancet (British edition) (09-03-2013)“…Summary Background Angiomyolipomas are slow-growing tumours associated with constitutive activation of mammalian target of rapamycin (mTOR), and are common in…”
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Tuberous sclerosis complex: neurological, renal and pulmonary manifestations
Published in Neuropediatrics (01-10-2010)“…Tuberous sclerosis complex (TSC) is an important cause of epilepsy and autism, as well as renal and pulmonary disease in adults and children. Affected…”
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Kidney intercalated cells and the transcription factor FOXi1 drive cystogenesis in tuberous sclerosis complex
Published in Proceedings of the National Academy of Sciences - PNAS (09-02-2021)“…Tuberous sclerosis complex (TSC) is caused by mutations in either TSC1 or TSC2 genes and affects multiple organs, including kidney, lung, and brain. In the…”
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Physiologically Based Pharmacokinetic Modeling of Extracellular Vesicles
Published in Biology (Basel, Switzerland) (29-08-2023)“…Extracellular vesicles (EVs) are lipid membrane bound-cell-derived structures that are a key player in intercellular communication and facilitate numerous…”
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Tuberous sclerosis complex renal disease
Published in Nephron. Experimental nephrology (01-11-2010)“…Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex…”
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Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference
Published in The Journal of pediatrics (01-09-2014)“…Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a severe, typically early onset form of cystic disease that primarily involves the kidneys…”
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Renal angiomyolipomata
Published in Kidney international (01-09-2004)“…Renal angiomyolipomata. Renal angiomyolipomata can exist as an imaging curiosity or represent a life-threatening condition. There are likely over 10 million…”
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Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis
Published in PloS one (07-09-2018)“…The EXIST-2 (NCT00790400) study demonstrated the superiority of everolimus over placebo for the treatment of renal angiomyolipomas associated with tuberous…”
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12
Serum vascular endothelial growth factor-D prospectively distinguishes lymphangioleiomyomatosis from other diseases
Published in Chest (01-09-2010)“…The majority of women with lymphangioleiomyomatosis (LAM) present with cystic lung disease, and most require lung biopsy for definitive diagnosis. The purpose…”
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A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report
Published in Orphanet journal of rare diseases (30-04-2019)“…Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian…”
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Lymphangioleiomyomatosis Screening in Women With Tuberous Sclerosis
Published in Chest (01-08-2013)“…Background Lymphangioleiomyomatosis (LAM) occurs in at least 40% of women with tuberous sclerosis complex (TSC), as diagnosed based on chest CT scan findings…”
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Tuberous Sclerosis Complex and the kidneys: what nephrologists need to know
Published in Brazilian Journal of Nephrology (01-01-2024)“…Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of hamartomas in the central nervous system, heart, skin,…”
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Tuberous Sclerosis Complex Axis Controls Renal Extracellular Vesicle Production and Protein Content
Published in International journal of molecular sciences (03-03-2020)“…The tuberous sclerosis complex (Tsc) proteins regulate the conserved mTORC1 growth regulation pathway. We identified that loss of the gene in mouse inner…”
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Tsc Gene Locus Disruption and Differences in Renal Epithelial Extracellular Vesicles
Published in Frontiers in physiology (28-06-2021)“…In tuberous sclerosis complex (TSC), Tsc2 mutations are associated with more severe disease manifestations than Tsc1 mutations and the role of extracellular…”
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Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study
Published in Nephron (2015) (01-01-2016)“…Renal-related disease is the most common cause of tuberous sclerosis complex (TSC)-related death in adults, and renal angiomyolipomas can lead to complications…”
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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
Published in Nephrology, dialysis, transplantation (01-06-2014)“…Tuberous sclerosis complex (TSC) is characterized by benign tumours in multiple organs, including the brain, kidneys, skin, lungs and heart. Our objective was…”
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Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4‐year results from the randomized EXIST‐1 and EXIST‐2 studies
Published in Journal of the European Academy of Dermatology and Venereology (01-10-2018)“…Background Tuberous sclerosis complex (TSC) is a genetic disorder associated with tumour growth in various organs, including the brain, kidneys, heart and…”
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