Results 31 to 40 of about 5,403,298 (185)
Indian Heart Journal, 2013 A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC) like facial ...
Dharmendra Jain +3 more
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Diagnosis of tuberous sclerosis complex in adulthood: A case report
Clinical Case Reports, 2022 Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder. TSC consists of a wide variety of clinical manifestations, with neurological and dermatological symptoms being the most frequent.
Rubén D. Cruz‐Zuniga +6 more
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Early autism symptoms in infants with tuberous sclerosis complex [PDF]
, 2017 Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50-60% of infants with TSC meeting criteria for ASD by 3 years of age.
Shafali S. Jeste +20 more
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The Pan African Medical Journal, 2015 Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC.
Kamini Gupta +3 more
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Tuberous sclerosis (TSC) [PDF]
, 2002 Review on Tuberous sclerosis (TSC), with data on clinics, and the genes ...
Bonnefont, JP, Munnich, A, Steffann, J
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Screen for chemical modulators of autophagy reveals novel therapeutic inhibitors of mTORC1 signaling [PDF]
, 2009 BackgroundMammalian target of rapamycin complex 1 (mTORC1) is a protein kinase that relays nutrient availability signals to control numerous cellular functions including autophagy, a process of cellular self-eating activated by nutrient depletion ...
Trevor C F Tsang +31 more
core +2 more sources
Pilot validation of the Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) checklist as a screening tool for neuropsychiatric manifestations [PDF]
, 2014 Includes abstract.
Leclezio, Loren
core +1 more source
Progress on genetics, diagnosis and treatment of tuberous sclerosis complex
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder that variably affects multiple organs. It is caused by TSC1 or TSC2 gene variation and has a high genetic heterogeneity.
Jie DENG, Xu WANG
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Structural insights into TSC complex assembly and GAP activity on Rheb
Nature Communications, 2021 Tuberous sclerosis complex (TSC) regulates cell growth by controlling the activity of mTORC1. The structure of human TSC complex reveals an arch-shaped, asymmetric architecture and a 2:2:1 stoichiometry of TSC1, TSC2, and TBC1D7 subunits and suggests a ...
Huirong Yang +10 more
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Saudi Journal of Kidney Diseases and Transplantation, 2017 Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs.
Sahar El Aoud +4 more
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