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Tuberous sclerosis complex [PDF]

Nature Reviews Disease Primers, 2016
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estimated that nearly 2 million people are affected by the ...
Elizabeth P, Henske, Sergiusz, Jóźwiak, J Christopher, Kingswood, Julian R, Sampson, Elizabeth A, Thiele   +4 more
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Tuberous Sclerosis Complex

Urology Journal, 2010
Thampi John Nirmal
doaj   +3 more sources

Tuberous Sclerosis Complex [PDF]

New England Journal of Medicine, 2017
A 71-year-old man presented for the evaluation of chronic kidney disease and was noted to have erythematous papules on his face and lesions over his toenails suggestive of tuberous sclerosis.
Michele, Marchini, Elisabetta, Giglio
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Epilepsy and preventive antiepileptic treatment in tuberous sclerosis complex. Literature review

Neurologijos seminarai, 2023
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the presence of benign tumors in many organs. The pathogenic mutation is found in either the TSC1 or TSC2 tumor suppressor genes. The presence of cortical or subcortical tubers
I. Kasiulevičiūtė
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Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility

BMC Neurology, 2021
Background Subependymal giant cell astrocytoma (SEGA) is occasionally seen in tuberous sclerosis complex (TSC). Two main options are currently available for treating SEGA: surgical resection or pharmacotherapy using mammalian target of rapamycin ...
Kyoichi Tomoto, Ayataka Fujimoto, Chikanori Inenaga, Tohru Okanishi, Shin Imai, Masaaki Ogai, Akiko Fukunaga, Hidenori Nakamura, Keishiro Sato, Akira Obana, Takayuki Masui, Yoshifumi Arai, Hideo Enoki   +12 more
doaj   +1 more source

Perfect match: mTOR inhibitors and tuberous sclerosis complex

Orphanet Journal of Rare Diseases, 2022
Highlights Hyperactivation of mammalian target of rapamycin (mTOR) is essential in the pathogenesis of tuberous sclerosis complex (TSC) and can serve as a therapeutic target. mTOR inhibitors have shown considerable success in multiple clinical trials for
Cong Luo, Wen-Rui Ye, Wei Shi, Ping Yin, Chen Chen, Yun-Bo He, Min-Feng Chen, Xiong-Bin Zu, Yi Cai   +8 more
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White matter disruptions related to inattention and autism spectrum symptoms in tuberous sclerosis complex

NeuroImage: Clinical, 2022
Tuberous sclerosis complex is a rare genetic multisystem condition that is associated with a high prevalence of neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder. The underlying neural mechanisms of the emergence of
Lucy D. Vanes, Charlotte Tye, Jacques-Donald Tournier, Anna J.E. Combes, Elizabeth Shephard, Holan Liang, Gareth J. Barker, Chiara Nosarti, Patrick Bolton   +8 more
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Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report

Frontiers in Oncology, 2021
Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney.
Tetsuya Yamamoto, Taigo Kato, Koji Hatano, Atsunari Kawashima, Takeshi Ujike, Shinichiro Fukuhara, Hiroshi Kiuchi, Ryoichi Imamura, Naokazu Ibuki, Kazuma Kiyotani, Masako Kurashige, Eichi Morii, Kazutoshi Fujita, Norio Nonomura, Motohide Uemura   +14 more
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Tuberous sclerosis complex: review based on new diagnostic criteria [PDF]

Anais Brasileiros de Dermatologia, 2018
: Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung.
Larissa Karine Leite Portocarrero, Klícia Novais Quental, Luciana Paula Samorano, Zilda Najjar Prado de Oliveira, Maria Cecília da Matta Rivitti-Machado   +4 more
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Early Sirolimus Gel Treatment May Diminish Angiofibromas and Prevent Angiofibroma Recurrence in Children With Tuberous Sclerosis Complex

Frontiers in Medicine, 2020
Introduction: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder. Angiofibromas (AF), fibrous plaques, and hypopigmented macules are the major skin findings in TSC.
Tohru Okanishi, Tohru Okanishi, Ayataka Fujimoto, Ayataka Fujimoto, Hideo Enoki, Masaaki Ogai, Masaaki Ogai   +6 more
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