Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. [PDF]
, 2019 The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC.
Beaure d'Augères, Guillaume +28 more
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Genetics and Molecular Biology, 2017 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
C. Rosset, C. Netto, P. Ashton-Prolla
semanticscholar +1 more source
Non‐canonical PKG1 regulation in cardiovascular health and disease
British Journal of Pharmacology, EarlyView.It is well established that the cyclic GMP‐dependent protein kinase I (PKG1) is canonically activated by cyclic guanosine monophosphate (cGMP), enabling its regulation of vascular tone, cardiac function and smooth muscle homeostasis. However, diverse non‐canonical stimuli of PKG1 have also been identified.
Jie Su, Joseph Robert Burgoyne
wiley +1 more source
Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: A case report
Case Reports in Women's Health, 2018 Cardiac tumors are rarely diagnosed in utero. Rhabdomyomas are the most common fetal cardiac tumors. They are usually diagnosed during the first year of life after obstruction of a valve orifice or a cardiac chamber; but they can be detected by ...
Emre Ekmekci +3 more
doaj
Saccular abdominal aortic aneurysm in adolescence with tuberous sclerosis
Clinical Case ReportsKey clinical message Abdominal aortic aneurysm complicated by tuberous sclerosis is rare, particularly in patients over the age of 10. It is important to screen for abdominal aortic aneurysm in adolescents diagnosed with tuberous sclerosis regularly ...
Takumi Umibe +4 more
doaj +1 more source
Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association
Indian Dermatology Online Journal, 2018 Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling.
Ankit Mittal +4 more
doaj +1 more source
Considerations for Prenatal Counselling of Patients with Cardiac Rhabdomyomas based on their Cardiac and Neurologic Outcomes [PDF]
, 2017 Cardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients.
Barrea, Catherine +10 more
core
Health care and risk of early death for people with learning disabilities [PDF]
, 2017 This commentary is on the original article "Causes of mortality in individuals with tuberous sclerosis complex" by Amin et ...
Amin, Heslop, Mencap, Mencap
core +1 more source
Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases
Cell Proliferation, EarlyView.HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang +4 more
wiley +1 more source
Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity [PDF]
, 2019 The molecular chaperone Heat shock protein 90 (Hsp90) is essential for the folding, stability, and activity of several drivers of oncogenesis. Hsp90 inhibitors are currently under clinical evaluation for cancer treatment, however their efficacy is ...
Backe, Sarah J +11 more
core +1 more source