نتایج جستجو برای: tuberous sclerosis complex tsc

تعداد نتایج: 845362  

2017
Ting-Ting Zhao Yong-Sheng Wang Yan Li Miao Ma Ai-Mei Li Hou-Rong Cai Xiang-Shan Fan Fan-Qing Meng Li-Yun Miao

Chest computed tomography (CT) screening is becoming more popular in China. Therefore, more and more rare diseases and early stages of lung diseases were found. Here, we reported a case who presented as multiple ground glass nodules incidentally found in chest CT scan who had been suspected as synchronous multiple primary lung cancer (SMPLC) and/or metastatic cancer. She was finally diagnosed a...

2012
Heather L. D. Brown Karla R. Kaun Bruce A. Edgar

Mutations in either of two tumor suppressor genes, TSC1 or TSC2, cause tuberous sclerosis complex (TSC), a syndrome resulting in benign hamartomatous tumors and neurological disorders. Cellular growth defects and neuronal disorganization associated with TSC are believed to be due to upregulated TOR signaling. We overexpressed Rheb, an upstream regulator of TOR, in two different subsets of D. me...

2015
James W. Wheless

Tuberous sclerosis complex (TSC) is a genetic disease in which overactivation of mechanistic target of rapamycin (mTOR) signaling leads to the growth of benign hamartomas in multiple organs, including the brain, and is associated with a high rate of epilepsy and neurological deficits. The mTOR inhibitor everolimus has been used in the treatment of subependymal giant cell astrocytomas and renal ...

2017
Benjamin E Housden Zhongchi Li Colleen Kelley Yuanli Wang Yanhui Hu Alexander J Valvezan Brendan D Manning Norbert Perrimon

Synthetic sick or synthetic lethal (SS/L) screens are a powerful way to identify candidate drug targets to specifically kill tumor cells, but this approach generally suffers from low consistency between screens. We found that many SS/L interactions involve essential genes and are therefore detectable within a limited range of knockdown efficiency. Such interactions are often missed by overly ef...

Journal: :Genesis 2007
Omar Hernandez Sharon Way James McKenna Michael J Gambello

Tuberous 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. Homozygous deletion of either gene causes midgestation let...

Journal: :Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion 2009
Edurne Lecumberri Pascual

Aproximately 5-10% of neuroendocrine tumours (NETs) of the gastroenteropancreatic system (GEP) have an hereditary background. The known hereditary syndromes include: multiple endocrine neoplasia type 1 (MEN 1), von Hippel Lindau disease (VHL), neurofibromatosis type 1 (NF 1) and tuberous sclerosis complex (TSC). This review discusses for each of these syndromes the: genes involved and specifics...

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