Results 1 to 10 of about 20,510 (176)

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family. [PDF]

Mol Genet Genomic Med
A five generation family with a known pathogenic variant (c.1372C>T; p.Arg458*) in TSC2 displaying a severe renal phenotype characterized by large angiomyolipomas, renal cystic disease, and chronic kidney disease leading to renal failure. Our report illustrates a possible genotype–phenotype and highlights the importance of establishing genotype ...
Tuller E, Samuels JA, Northrup H, Richardson K.   +3 more
europepmc   +2 more sources

Uncomplexed-TSC1 deploys novel mTORC1-independent pathway to exacerbate the liver glycogen storage in TSC [PDF]

Cell Death and Disease
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations in TSC1 or TSC2 gene, leading to mTORC1 hyperactivation. However, mTORC1-independent mechanisms in this disorder remain poorly understood.
Xiaoqiao Yue, Yanping Zhang, Na Zhao, Tao Lang, Guangxin Chen, Qiuhong Xiong, Lei Gao, Wenjing Wang, Ping Li, Changxin Wu   +9 more
doaj   +2 more sources

Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex [PDF]

Nephrology (Carlton)
ABSTRACT Tuberous sclerosis complex (TSC) is a multisystem condition associated with disease‐causing variants of either TSC1 or TSC2 genes. Significant kidney involvement in TSC is most often due to development of angiomyolipomas (AMLs) and occurs more frequently in people with TSC2 variants.
Donald J, Edmonstone C, Chan D, Chung C, Kennedy S.   +4 more
europepmc   +2 more sources

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic. [PDF]

Clin Genet
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Weisblum Neuman H, Via Dorembus S, Shlomovitz O, Greenberger S, Lahav E, Mini-Goldberger S, Tzadok M.   +6 more
europepmc   +2 more sources

Focal postnatal deletion of <i>Tsc2</i> causes epilepsy. [PDF]

Front Mol Neurosci
Introduction Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in either the TSC1 or TSC2 genes. These mutations prevent the TSC1/TSC2 protein complex from forming, resulting in
McCoy C, Dusing M, Jerow LG, Winstel GC, Zhan F, Rogers JL, Wesley M, Otten JB, Danzer SC, LaSarge CL.   +9 more
europepmc   +2 more sources

Identification of genetic variants in a pedigree associated with epilepsy by using whole exome sequencing and whole genome sequencing [PDF]

Journal of Integrative Neuroscience, 2021
Epilepsy is a common heterogeneous group of neurological disorders including electroencephalographic and brain imaging. We used whole exome sequencing and whole genome sequencing to identify variants in a pedigree associated with epilepsy.
Qin-Qin Zhang, Zi-Hua Wang, Jun-Shi Zhang, Jun-Nan Guo, Xu-Hong Lin, Lei An   +5 more
doaj   +1 more source

Tsc2 coordinates neuroprogenitor differentiation

iScience, 2023
Neural stem cells (NSCs) of the ventricular-subventricular zone (V-SVZ) generate numerous cell types. The uncoupling of mRNA transcript availability and translation occurs during the progression from stem to differentiated states. The mTORC1 kinase pathway acutely controls proteins that regulate mRNA translation.
Victoria A. Riley, Vijay Shankar, Jennie C. Holmberg, Aidan M. Sokolov, Victoria N. Neckles, Kaitlyn Williams, Rachel Lyman, Trudy F.C. Mackay, David M. Feliciano   +8 more
openaire   +3 more sources

Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM. [PDF]

PLoS ONE, 2008
BACKGROUND: Tuberous sclerosis complex (TSC), a tumor syndrome caused by mutations in TSC1 or TSC2 genes, is characterized by the development of hamartomas.
Elena Lesma, Vera Grande, Silvia Ancona, Stephana Carelli, Anna Maria Di Giulio, Alfredo Gorio   +5 more
doaj   +1 more source

Lymphangioleiomyomatosis andTSC2^-/-Cells [PDF]

Lymphatic Research and Biology, 2010
The cells comprising pulmonary lymphangioleiomyomatosis (LAM) and renal angiomyolipomas (AMLs) are heterogeneous, with variable mixtures of cells exhibiting differentiation towards smooth muscle, fat, and vessels. Cells grown from LAM and AMLs have likewise tended to be heterogeneous.
T. N. Darling, G. Pacheco Rodriguez, A. Gorio, E. Lesma, C. Walker, J. Moss   +5 more
openaire   +2 more sources

Tumor suppressors TSC1 and TSC2 differentially modulate actin cytoskeleton and motility of mouse embryonic fibroblasts. [PDF]

PLoS ONE, 2014
TSC1 and TSC2 mutations cause neoplasms in rare disease pulmonary LAM and neuronal pathfinding in hamartoma syndrome TSC. The specific roles of TSC1 and TSC2 in actin remodeling and the modulation of cell motility, however, are not well understood ...
Elena A Goncharova, Melane L James, Tatiana V Kudryashova, Dmitry A Goncharov, Vera P Krymskaya   +4 more
doaj   +1 more source