The Development of Methods of BLOTCHIP®-MS for Peptidome: Small Samples in Tuberous Sclerosis
Current Issues in Molecular BiologyMutations in TSC1 or TSC2 in axons induce tuberous sclerosis complex. Neurological manifestations mainly include epilepsy and autism spectrum disorder (ASD). ASD is the presenting symptom (25–50% of patients).
Kunio Yui +6 more
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Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability [PDF]
, 2019 Bernt Popp +8 more
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Role of the TSC1-TSC2 Complex in the Integration of Insulin and Glucose Signaling Involved in Pancreatic β-Cell Proliferation [PDF]
, 2010 Alberto Bartolomé +2 more
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[TSC2/PKD1 contiguous gene deletion syndrome].
Anales de pediatria (Barcelona, Spain : 2003), 2014 The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273).
S, Llamas Velasco +5 more
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Figure S2 from TSC2 Interacts with HDLBP/Vigilin and Regulates Stress Granule Formation [PDF]
, 2023 Kosmas Kosmas +8 more
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The TSC1–TSC2 complex: a molecular switchboard controlling cell growth
, 2008 Jingxiang Huang, Brendan D. Manning
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Defining the in vivo role of mTORC1 in thyrocytes by studying the TSC2 conditional knockout mouse model [PDF]
, 2023 Camila Lüdke Rossetti +8 more
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Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice [PDF]
, 2010 Dan Ehninger +14 more
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