TSC2 (tuberous sclerosis 2)
نویسندگان
چکیده
منابع مشابه
A novel TSC2 mutation causing tuberless tuberous sclerosis
http://dx.doi.org/10.1016/j.seizure.2014.04.001 1059-1311/ 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights re hamartomas most commonly in the brain, skin, kidney and eye, that cause disabling neuro-pschyatric manifestations. It’s clinical manifestations and penetrance are highly variable and the classical triad of presentation occurs in just 29% of patients. Locus heter...
متن کاملComparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.
Germ-line mutations of the TSC2 tumour suppressor gene have been identified in humans with tuberous sclerosis and in the Eker rat. Tuberin, the human TSC2 gene product, has a small region of homology with rap1GAP and stimulates rap1 GTPase activity in vitro, suggesting that one of its cellular roles is to function as a GTPase activating protein (GAP). We have undertaken a comparative analysis o...
متن کاملNipple angiofibromas with loss of TSC2 are associated with tuberous sclerosis complex
activation in nipple angiofibromas. Tumor fibroblast-like cells from nipple angiofibromas (T) and control fibroblasts from normal-appearing skin (C) were grown in Dulbecco's Modified Eagle Medium supplemented with 10% fetal bovine serum and then switched to serum-free DMEM for 24 hrs. Cells were lysed in protein extraction buffer and equal amounts of protein extracts resolved by sodium dodecyl ...
متن کاملTSC2 rare germline variants in non-tuberous sclerosis patients with neuroendocrine neoplasias
Neuroendocrine neoplasias (NENs) represent a heterogeneous group of diseases with a wide spectrum of morbidity and lethality. These tumors can arise in almost any organ of the body, with the pancreas and the gastrointestinal tract being the most common primary sites (Yao et al. 2017). NENs are mainly considered sporadic diseases, although 5–20% of all cases occur in the context of genetic syndr...
متن کاملTSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mut...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/37812