Search Results - "Bissler, John"
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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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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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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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Renal cystic disease in tuberous sclerosis complex
Published in Experimental biology and medicine (Maywood, N.J.) (01-10-2021)“…Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is…”
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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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Early therapy with sirolimus reduces size of a large solid renal mass but not seizure activity in an infant with tuberous sclerosis
Published in Journal of nephrology (01-01-2024)Get full text
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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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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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Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial
Published in Nephrology, dialysis, transplantation (01-01-2016)“…Mammalian target of rapamycin (mTOR) inhibitors are recommended as first-line treatment of renal angiomyolipoma associated with tuberous sclerosis complex…”
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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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Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
Published in The New England journal of medicine (10-01-2008)“…In this open-label trial, patients with tuberous sclerosis or lymphangioleiomyomatosis — conditions with constitutive activation of signaling by the mammalian…”
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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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Replication-dependent instability at (CTG)•(CAG) repeat hairpins in human cells
Published in Nature chemical biology (01-09-2010)“…Instability of (CTG)•(CAG) repeats in microsatellite DNA has been linked to numerous neurological diseases. Probing trinucleotide repeat structures using…”
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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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Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex
Published in PloS one (12-10-2017)“…To determine the impact of everolimus on female fertility, including menstrual irregularities, secondary amenorrhea, and luteinizing and follicle stimulating…”
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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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Indocyanine green–guided nephron-sparing surgery for pediatric renal tumors
Published in Journal of pediatric surgery (01-09-2022)“…Indocyanine green (ICG), a water-soluble tricarbocyanine fluorophore, is being increasingly used for tumor localization based on its passive intra-tumoral…”
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Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2
Published in Nephrology, dialysis, transplantation (01-06-2019)“…Abstract Background A reduction in renal angiomyolipoma volume observed with everolimus (EVE) treatment in patients with tuberous sclerosis complex (TSC) has…”
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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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