Results 301 to 310 of about 40,807 (310)

Mutation analysis of the TSC2 gene in an African-American family

Human Molecular Genetics, 1995
Tuberous sclerosis complex is an autosomal dominant disorder with loci on chromosome 9q34 (TSC1) and chromosome 16p13.3 (TSC2). The TSC2 gene has been isolated. To date, only a small number of intragenic deletional and point mutations have been detected, almost exclusively in sporadic (no family history) cases.
Arun Kumar, Chantelle M. Wolpert, John R. Gilbert, R.S. Kandt, A. D. Roses, Margaret A. Pericak-Vance   +5 more
openaire   +3 more sources

The role of TSC1 and TSC2 proteins in neuronal axons

Molecular Psychiatry
Tuberous Sclerosis Complex 1 and 2 proteins, TSC1 and TSC2 respectively, participate in a multiprotein complex with a crucial role for the proper development and function of the nervous system. This complex primarily acts as an inhibitor of the mechanistic target of rapamycin (mTOR) kinase, and mutations in either TSC1 or TSC2 cause a ...
Vasiliki Karalis, Delaney Wood, Nicole A. Teaney, Mustafa Sahin   +3 more
openaire   +2 more sources

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

Nature Cell Biology, 2002
K. Inoki, Yong Li, Tian Zhu, Jun Wu, K. Guan   +4 more
semanticscholar   +1 more source

TSC2/PKD1 Contiguous Gene Deletion Syndrome

Clinical Pediatrics, 2023
Javier Arredondo Montero, Mónica Bronte Anaut, María Velayos, María del Carmen Sarmiento, Carla Ramírez Amorós, Pedro López-Pereira   +5 more
openaire   +2 more sources

Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology

Child's Nervous System, 2020
M. Fohlen, I. Harzallah, M. Polivka, F. Giuliano, L. Pons, N. Streichenberger, G. Dorfmüller, R. Touraine   +7 more
semanticscholar   +1 more source

Expression and differential splicing of the mouse TSC2 homolog

Mammalian Genome, 1996
J. N. Schofield, Yvonne H. Edwards, A. M. Frischauf, P. G. Olsson   +3 more
openaire   +3 more sources

TRIM31 is upregulated in hepatocellular carcinoma and promotes disease progression by inducing ubiquitination of TSC1–TSC2 complex

Oncogene, 2018
Pengbo Guo, Xiaomin Ma, Wei Zhao, Wanwan Huai, Li Tao, Yumin Qiu, Ying Zhang, Lihui Han   +7 more
semanticscholar   +1 more source

Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex

Journal of Human Genetics, 2020
Yuhuan Meng, Changshun Yu, Meijun Chen, Xiaokang Yu, Mingming Sun, Hui Yan, Weiwei Zhao, Shihui Yu   +7 more
semanticscholar   +1 more source

The TSC2/PKD1 Contiguous Gene Syndrome

1997
openaire   +3 more sources

PKD1/TSC2 contiguous gene deletion syndrome

Nephrology, 2017
Henry Duncan, Madhivanan Sundaram, Anil Kookana, Ravi Mathew   +3 more
openaire   +2 more sources