Results 51 to 60 of about 18,866 (220)
We evaluated the efficacy of everolimus in 3 patients who had huge renal angiomyolipomas associated with tuberous sclerosis complex. Two patients with large lipid-rich angiomyolipomas had a history of renal transarterial embolization for renal bleeding ...
Naoya Toriu +15 more
doaj +1 more source
Loss of myeloid Tsc2 predisposes to angiotensin II-induced aortic aneurysm formation in mice
Rationale Genetic studies have proved the involvement of Tuberous sclerosis complex subunit 2 (Tsc2) in aortic aneurysm. However, the exact role of macrophage Tsc2 in the vascular system remains unclear.
Xue Liu +4 more
doaj +1 more source
ABSTRACT Objective Anorexia nervosa (AN) is a severe psychiatric disorder marked by an intense fear of gaining weight and persistent body dissatisfaction, both during periods of underweight and after weight restoration. The endocannabinoid system may offer therapeutic benefits, particularly in reducing anxiety.
Neha Sahota +8 more
wiley +1 more source
Genetics and Molecular Biology of Tuberous Sclerosis Complex
Tuberous Sclerosis Complex is a multisystem disorder exhibiting a wide range of manifestations characterized by tumour-like lesions called hamartomas in the brain, skin, eyes, heart, lungs and kidneys. Tuberous Sclerosis Complex is genetically determined
Paolo Curatolo +3 more
core +1 more source
Summary: Emerging data suggest a significant cross-talk between metabolic and epigenetic programs. However, the relationship between the mechanistic target of rapamycin (mTOR), which is a pivotal metabolic regulator, and epigenetic modifications remains ...
HaEun Kim +11 more
doaj +1 more source
Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie +10 more
wiley +1 more source
mTOR complex 2 - akt signaling is physically and functionally at mam [PDF]
The target of rapamycin (TOR) is a conserved protein kinase and a central controller of growth. TOR can be part of two structurally and functionally distinct complexes, termed TOR complex 1 and TOR complex 2.
Betz, Charles
core +1 more source
Rapamycin-independent IGF2 expression in Tsc2-null mouse embryo fibroblasts and human lymphangioleiomyomatosis cells. [PDF]
Lymphangioleiomyomatosis (LAM) is a rare, almost exclusively female lung disease linked to inactivating mutations in tuberous sclerosis complex 2 (TSC2), a tumor suppressor gene that controls cell metabolic state and growth via regulation of the ...
Blanca E Himes +9 more
doaj +1 more source
Abstract Objective Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy ...
Branden Stansley +11 more
wiley +1 more source
Abstract Understanding the mechanisms underlying post‐traumatic epilepsy (PTE) following traumatic brain injury (TBI), and developing strategies to prevent or modify its progression, has been the focus of large collaborative efforts within the epilepsy and TBI research communities for over a decade.
Elisa R. Zanier +82 more
wiley +1 more source

