Results 51 to 60 of about 20,458 (226)

Livers with constitutive mTORC1 activity resist steatosis independent of feedback suppression of Akt. [PDF]

PLoS ONE, 2015
Insulin resistance is an important contributing factor in non-alcoholic fatty liver disease. AKT and mTORC1 are key components of the insulin pathway, and play a role in promoting de novo lipogenesis.
Heidi L Kenerson, Savitha Subramanian, Rebecca McIntyre, Machiko Kazami, Raymond S Yeung   +4 more
doaj   +1 more source

PAX8-positive conventional urothelial carcinomas of the urinary bladder and their distinct molecular profiles - A clinicopathologic study of 101 consecutive cases with next-generation sequencing in 20 cases. [PDF]

Histopathology
PAX8 expression in urothelial carcinoma was investigated in 101 consecutive transurethral resections of the urinary bladder. PAX8 was positive in 10% of cases, with targeted molecular testing of these cases revealing universal TERT promoter mutations and frequent alterations in TSC1, NOTCH1 and WT1. Aims PAX8 immunohistochemistry (IHC) is often used to
Lammert SM, Luo W, Zhu AC, Wang P, Antic T, Kwon JW.   +5 more
europepmc   +2 more sources

Evidence for population variation in TSC1 and TSC2 gene expression [PDF]

BMC Medical Genetics, 2011
AbstractBackgroundTuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes,TSC1orTSC2, which encode the proteins hamartin and tuberin, respectively [1–3]. Common features of TSC include intractable epilepsy, mental retardation, and autistic features.
Saffen David, Olfers Shannon, Rice Stephen G, Jentarra Garilyn M, Narayanan Vinodh   +4 more
openaire   +3 more sources

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

Epilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon, Shuyun Wang, Qinghua Liu, Chunling Chen, Alexander M. Greiner, Abigail M. Marx, Maya Shih, Jack M. Parent, Barry London, Lori L. Isom   +9 more
wiley   +1 more source

Functional assessment of TSC1 exon-specific deletions.

, 2014
Sequences corresponding to the individual coding exons of TSC1 were deleted from a wild-type TSC1 expression construct so as to maintain the original reading frame (see Supporting Information Table S1).
Marianne Hoogeveen-Westerveld (549062), Ans van den Ouweland (89937), Ushio Kikkawa (226238), Anneke Maat-Kievit (549063), Dicky Halley (366558), Mark Nellist (549064), Arthur Jorge Santiago Lima (549061), Akio Nakashima (271973)   +7 more
core   +1 more source

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, EarlyView.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal, Costin Leu, Christian M. Boßelmann, Alina Ivaniuk, Eduardo Pérez‐Palma, Dennis Lal   +5 more
wiley   +1 more source

Overview of functional domain structure of TSC1.

, 2014
The segments encoded by each TSC1 coding exon (3 – 23) are shown. Intron-exon boundaries that are not exactly in-frame are indicated with +1 or +2. Exons 4 – 9 and 18 that are essential for TSC1 stability are shown in red and the extent of the TSC1 ...
Marianne Hoogeveen-Westerveld (549062), Ans van den Ouweland (89937), Ushio Kikkawa (226238), Anneke Maat-Kievit (549063), Dicky Halley (366558), Mark Nellist (549064), Arthur Jorge Santiago Lima (549061), Akio Nakashima (271973)   +7 more
core   +1 more source

Hypoxia-inducible factor-1α polymorphisms and TSC1/2 mutations are complementary in head and neck cancers

Molecular Cancer, 2006
Background Polymorphisms or mutations in hypoxia inducible factor-1 alpha (HIF-1alpha) that increases its activity and stability under normoxia have recently been identified.
Nikitakis Nikolaos G, Ord Robert A, Parashar Pallavi, Norris Kathleen, Hebert Carla, Sauk John J   +5 more
doaj   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

Akt induces steatosis in the Tsc1−/− livers.

, 2013
A) Contrasting effects of Pten- and Tsc1-loss on Akt signaling in the liver. Immunoblot analyses of liver lysates from fasted 20 wk-old mice using indicated antibodies to highlight Akt and mTORC1 signaling. B) Effects of Akt on Tsc1−/− livers.
Heidi L. Kenerson (354075), Matthew M. Yeh (354077), Raymond S. Yeung (354078)   +2 more
core   +1 more source