Results 281 to 290 of about 40,807 (310)

HMGB1 mediates inflammation response of epileptogenicity in tuberous sclerosis complex-related epilepsy. [PDF]

Sci Prog
Kuang S, Liu T, Yuan L, Xu J, Wang Y, Chen F, Liang S.   +6 more
europepmc   +1 more source

Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report. [PDF]

Radiol Case Rep
Kawasaki A, Tonoki H, Sasaki O, Matsushita Y, Watari M, Takahashi N, Fujieda S.   +6 more
europepmc   +1 more source

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TSC2 alterations in anaplastic ependymoma progression to ependymosarcoma

Clinical Neuropathology, 2020
Ependymosarcomas are rare, biphasic tumors composed of ependymal and sarcomatous components. Due to their rarity, their biologic basis is not well understood. We report the case of a 38-year-old male with anaplastic ependymoma (WHO grade III) that progressed to ependymosarcoma in less than 2 years after multiple resections, chemoradiotherapy, and anti ...
Elisabet Pujadas, Elisabet Pujadas, Fausto J. Rodriguez, Matthias Holdhoff, Bryam H. Ozer, Liam Chen, Jon D. Weingart, Brent A. Orr   +7 more
openaire   +3 more sources

Analysis of the TSC2 gene in human medulloblastoma

Acta Neuropathologica, 2001
Medulloblastoma (MB) represents the most frequent malignant brain tumor of childhood. Recent studies have shown that deregulation of developmental control genes may play an important role in its pathogenesis. Tuberous sclerosis is associated with hamartomas and cortical tubers, consisting of both glial and neuronal cellular components.
Andreas von Deimling, Frank Berthold, Torsten Pietsch, Juergen Krauss, Markus M. Nöthen, Birgit Meyer-Puttlitz, Jörg C. Tonn, Rene Przkora, Otmar D. Wiestler, Ottmar Schmitt   +9 more
openaire   +3 more sources

Evolution of the TSC1/TSC2-TOR Signaling Pathway

Science Signaling, 2010
The TSC1/TSC2-TOR signaling pathway evolved from a primitive signaling pathway linking adenosine monophosphate abundance to cell growth.
Jaco Serfontein, R. Ellen R. Nisbet, Christopher J. Howe, Petrus J. de Vries   +3 more
openaire   +4 more sources

Generation of a conditional disruption of the Tsc2 gene

genesis, 2007
AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 gene. Patients afflicted with TSC develop tumors in various organ systems, but cerebral pathology is particularly severe. Conventional gene disruption of the Tsc1 or Tsc2 gene in mice cause limited central nervous system pathology ...
Michael J. Gambello, Michael J. Gambello, Sharon Way, Omar Hernandez, James McKenna   +4 more
openaire   +2 more sources

Acquired Cystic Kidney Disease–associated Renal Cell Carcinoma (ACKD-RCC) Harbor Recurrent Mutations in KMT2C and TSC2 Genes

American Journal of Surgical Pathology, 2020
Individuals with acquired cystic kidney disease (ACKD) in the setting of end-stage renal disease (ESRD) have a high risk of developing renal cell carcinoma (RCC).
Abhishek Shah, P. Lal, Erik Toorens, M. Palmer, L. Schwartz, Norge Vergara, T. Guzzo, A. Nayak   +7 more
semanticscholar   +1 more source