Results 81 to 90 of about 28,615 (209)

Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide [PDF]

, 2017
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs ...
Davies, Mark, Kingswood, John C., Saxena, Anurag   +2 more
core   +3 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

XBP-1s (spliced form of x-box binding protein-1) proteininin TSC (tuberous sclerosis complex) eksikliğinde insülin hassasiyetinin düzenlenmesindeki rolü

, 2021
İnsülin hassasiyetinin azalması, yani insülin direnci, Türkiye'de ve dünyada insan sağlığını tehdit eden obezite ve tip 2 diyabet gibi birçok metabolik bozukluğun altında yatan en önemli nedenlerden biridir. Beyin, böbrek ve deri gibi çeşitli organlarda selim tümörlere neden olan, otozomal dominant kalıtımlı tuberoz sklerozis (TSC) hastalığında da
openaire   +1 more source

Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex [PDF]

, 2014
The TSC1-TSC2-TBC1D7 complex is an important negative regulator of the mechanistic target of rapamycin complex 1 that controls cell growth in response to environmental cues.
Halley, D.J.J. (Dicky), Hoogeveen-Westerveld, M. (Marianne), Kikkawa, U. (Ushio), Maat-Kievit, A.A. (Anneke), Nakashima, A. (Akio), Nellist, M.D. (Mark), Ouweland, A.M.W. (Ans) van den, Santiago Lima, A.J. (Arthur Jorge)   +7 more
core   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation [PDF]

, 1999
Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 ...
Bakker, L. (Lida), Bakker, R. (Remco), Halley, D.J.J. (Dicky), Lindhout, D. (Dick), Nellist, M.D. (Mark), Ouweland, A.M.W. (Ans) van den, Slegtenhorst, M.A. (Marjon) van, Tempelaars, A.M.P. (Anita), Verhoef, S., Wang, Q. (Qing), Wessels, M.W. (Marja)   +10 more
core  

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Mechanosensitive molecular networks involved in transducing resistance exercise-signals into muscle protein accretion

Frontiers in Physiology, 2016
Loss of skeletal muscle myofibrillar protein with disease and/or inactivity can severely deteriorate muscle strength and function. Strategies to counteract wasting of muscle myofibrillar protein are therefore desirable and invite for considerations on ...
Emil Rindom, Emil Rindom, Kristian Vissing   +2 more
doaj   +1 more source

Rapamycin-Insensitive Up-Regulation of Adipocyte Phospholipase A2 in Tuberous Sclerosis and Lymphangioleiomyomatosis [PDF]

, 2014
Tuberous sclerosis syndrome (TSC) is an autosomal dominant tumor suppressor gene syndrome affecting multiple organs, including renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM).
Guo, Yanan, Kwiatkowski, David J., Lee, Po-Shun, Li, Chenggang, Osorio, Juan C., Rosas, Ivan O., Sun, Yang, Xu, Kai-Feng, Yu, Jane J., Zhan, Yongzhong, Zhang, Erik   +10 more
core   +2 more sources

Chronic sleep deprivation promotes drug‐resistant epilepsy via the BMAL1‐mTOR‐P‐gp axis

Epilepsia Open, EarlyView.
Abstract Objective The interplay between chronic sleep deprivation and drug‐resistant epilepsy (DRE) has gained increasing attention. Brain and muscle Arnt‐like protein 1 (BMAL1), which is implicated in sleep disturbance, has an unclear role in DRE. We aimed to investigate the role of BMAL1 in sleep deprivation‐induced DRE. Methods A pentylenetetrazole
Xiaomeng Wang, Rui Li, Yuzhu Zhang, Yi Hu, Jingjiao Chen, Sijia Tian, Dong Zhou, Xiaosa Chi   +7 more
wiley   +1 more source