Results 51 to 60 of about 18,157 (223)

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman, Gillian N. Miller, Mustafa Sahin, Jurriaan M. Peters, Simon K. Warfield, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Michael D. Fox, Alexander L. Cohen   +10 more
wiley   +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

Tsc1 haploinsufficiency in Nkx2.1 cells upregulates hippocampal interneuron mTORC1 activity, impairs pyramidal cell synaptic inhibition, and alters contextual fear discrimination and spatial working memory in mice

Molecular Autism, 2020
Background Mutations in TSC1 or TSC2 genes cause tuberous sclerosis complex (TSC), a disorder associated with epilepsy, autism, and intellectual disability.
Nabila Haji, Ilse Riebe, Argel Aguilar-Valles, Julien Artinian, Isabel Laplante, Jean-Claude Lacaille   +5 more
doaj   +1 more source

Retraction: Drosophila yakuba – Tsc1

, 2021
Lose, B; Myers, A; Fondse, S; Alberts, I; Stamm, J; Youngblom, JJ; Rele, CP; Reed, LK (2021). Private: Drosophila yakuba – Tsc1. microPublication Biology. 10.17912/micropub.biology.000407, was mistakenly published before peer-review was completed. This was not an intentional . The published version of the article was made removed from public viewing on
openaire   +1 more source

The variation of AkT/TSC1–TSC1/mTOR signal pathway in hepatocytes after partial hepatectomy in rats

Experimental and Molecular Pathology, 2009
The aim of this study was to investigate the role and regulatory mechanisms of Akt/TSC1-TSC2/mTOR signal pathway on the hepatocyte growth and proliferation after partial hepatectomy in rats.We used the animal model of 70% hepatectomy, separated and cultivated hepatocytes.
Ping, Chen, Hongtao, Yan, Yin, Chen, Zhonglin, He   +3 more
openaire   +2 more sources

Tsc1Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation inTsc1+/− Mice [PDF]

Cancer Research, 2006
AbstractTuberous sclerosis complex (TSC) is caused by mutations in either the TSC1 or TSC2 gene. Both genes are generally considered to act as tumor suppressors that fulfill Knudson's “two-hit hypothesis” and that function within the phosphoinositide 3-kinase-Akt-mammalian target of rapamycin (mTOR) pathway.
Catherine, Wilson, Cleo, Bonnet, Carol, Guy, Shelley, Idziaszczyk, James, Colley, Vikki, Humphreys, Julie, Maynard, Julian R, Sampson, Jeremy P, Cheadle   +8 more
openaire   +2 more sources

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

Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.

PLoS ONE, 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.
Arthur Jorge Santiago Lima, Marianne Hoogeveen-Westerveld, Akio Nakashima, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley, Ushio Kikkawa, Mark Nellist   +7 more
doaj   +1 more source

TSC1 Promotes B Cell Maturation but Is Dispensable for Germinal Center Formation. [PDF]

PLoS ONE, 2015
Accumulating evidence indicates that the tuberous sclerosis complex 1 (TSC1), a tumor suppressor that acts by inhibiting mTOR signaling, plays an important role in the immune system.
Xinxin Ci, Masayuki Kuraoka, Hongxia Wang, Zachary Carico, Kristen Hopper, Jinwook Shin, Xuming Deng, Yirong Qiu, Shyam Unniraman, Garnett Kelsoe, Xiao-Ping Zhong   +10 more
doaj   +1 more source