Results 11 to 20 of about 46,855 (284)
The Keio Journal of MedicineTuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in
Rout P, Thomas A.
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Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex [PDF]
, 2012 Background and Objectives: Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the complex cell signaling pathways that are disrupted in tuberous sclerosis indicates
Hebert, Adelaide A. +6 more
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Revista Ciencias Biomédicas, 2015 Introduction: tuberous sclerosis complex (TSC) is a neurocutaneous syndrome autosomal dominant (AD), characterized by multiple hamartomas formation due to mutation of the TSC1 and TSC2 genes responsible for encoding tumor suppressor proteins.
Barboza-Ubarnes Miriam +2 more
doaj +7 more sources
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 [PDF]
BMC Medical Genetics, 2018 Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Ruixiao Zhang +7 more
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Bilateral Renal Angiomyolipomas with Invasion of the Renal Vein: A Case Report [PDF]
The Scientific World Journal, 2008 An angiomyolipoma (AML) is usually a benign, rare, and, more commonly, a unilateral renal tumour. Bilateral tumours are very rare, particularly in the absence of tuberous sclerosis complex.
C. Blick +3 more
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Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation [PDF]
, 1999 Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 ...
Bakker, L. (Lida) +10 more
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Coexistence of Renal Cell Carcinoma and Psoriasis in Tuberous Sclerosis Complex: A Shared mTOR Pathway Pathogenesis? [PDF]
Clinical Case ReportsTuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign hamartomas in multiple organs. Although renal manifestations such as angiomyolipomas and cysts are common, the occurrence of renal cell carcinoma (RCC) in ...
Sunil Jaiswal +5 more
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Muller Journal of Medical Sciences and Research, 2014 Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients.
Namitha Chathra, M Ramesh Bhat
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Tuberous Sclerosis Complex [PDF]
Seminars in Pediatric Neurology, 2021 Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular proliferation and migration producing hamartomas-benign tumors or malignant cancers affecting the skin and brain ...
Carmona, Jesica Martín +3 more
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Tuberous Sclerosis Complex [PDF]
Indian Journal of Pediatrics, 2020 Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by mutations in the TSC1 gene (encoding of hamartin) or TSC2 gene (encoding of tuberin). The mutations result in dysregulation of cellular hyperplasia.
Madhuri, Akella +2 more
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