Results 61 to 70 of about 20,458 (226)

Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants

, 2021
Background: Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex ...
Selma Demir, Atli, Emine Ikbal, Karal, Yasemin, Engin Atlı, Eker, Damla, Yalcintepe, Sinem, Demir, Selma, Yalcin, Yelda, Emine İkbal Atlı, Damla Eker, Sinem Yalçıntepe, Yasemin Karal, Yelda Yalçın, Hakan Gürkan, Atli, Engin   +14 more
core   +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

Effectiveness and tolerability of fenfluramine in pediatric and adult patients with developmental and epileptic encephalopathies: A multicenter, retrospective, real‐world clinical‐practice study

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva, Elena González‐Alguacil, Patricia Smeyers, Sara Hernández, Victor Soto‐Insuga, Alejandro Fernández‐Cabrera, Laura Olivié, Teresa de Santos, Beatriz Parejo, Lucas Iacampo, Belén Ortuño, Javier Aparicio, Montserrat Fuentes, Juan Rodriguez‐Uranga, Paula Martínez‐Agredano, José Carlos Estévez, Angel Aledo‐Serrano, Rocio Martin‐Alvarez, David Conejo, Belen Baena, Blanca Mercedes‐Álvarez, Yolanda López, Alba Sierra‐Marcos, Rocio Trincado‐Lamuño, Mouna Ennazeh, Jesús González de la Aleja, Julia Renau, Maria Dolores Castro‐Vilanova, Fátima Romero‐Aguilera, José M. Serratosa   +29 more
wiley   +1 more source

TSC1 inhibits proliferation of TSC1-deficient cells.

, 2013
(A) Restoration of TSC1 suppresses the mTOR signaling pathway in TSC1-deficient renal tumor cells. Total cell lysates were analyzed by immunoblotting with the indicated antibodies. Two independent sets of each cell line were examined.
Takashi Igarashi (276289), Okio Hino (138949), Masashi Mizuguchi (276290), Maki Ohsawa (276286), Toshiyuki Kobayashi (276287), Hidehiro Okura (276288)   +5 more
core   +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

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

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

Functional assessment of the effect of the TSC1 Y948N, I954K and L963S variants on the TSC1-TSC2-TBC1D7 interaction.

, 2014
The TSC1 Y948N, I954K and L963S variants were coexpressed with TSC2 in transfected HEK 293T cells. TSC1-TSC2-TBC1D7 complexes were isolated by immunoprecipitation. Immunoblot showing expression of the TSC1 variants (anti-myc), TSC2 (anti-TSC2) and TBC1D7
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

Missense mutations to the **TSC1** gene cause tuberous sclerosis complex

, 2009
: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues.
Nellist, Mark, van den Ende, Jenneke, Schluep, Diane, et al., van den Heuvel, Diana   +4 more
core   +2 more sources

Epigenetic Regulation in the Pathogenesis of Renal Inflammation: Insights and Therapeutic Potentials

iNew Medicine, EarlyView.
ABSTRACT Renal inflammation is a common pathological process in various kidney diseases, often initiated by factors such as toxins, ischemia, or autoimmune reactions. This inflammatory response can result in structural damage and a rapid decline in renal function.
Yu‐Hang Dong, Xiao‐Yu Shen, Han‐Cheng Jin, Xiang‐Yu Li, Hao He, Xiao‐Ming Meng   +5 more
wiley   +1 more source