Results 151 to 160 of about 25,325 (232)

Molecular Characterization of <i>TSC1</i> and <i>TSC2</i> Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients. [PDF]

Hum Mutat
Avgeris SN, Fostira F, Apostolou P, Delimitsou A, Smyrniotis S, Yannoukakos D, Stravopodis DJ, Syntichaki P, Voutsinas GE.   +8 more
europepmc   +1 more source

mTORC1 activation induces B7-H3-dependent metabolic reprogramming in renal cell carcinoma (RCC). [PDF]

Oncogene
Li K, Du H, Wang Y, Khabibullin D, Alchoueiry M, Daou M, Asara JM, Kwiatkowski DJ, Henske EP, Liu HJ.   +9 more
europepmc   +1 more source

Kidney Cyst Epithelia in Tuberous Sclerosis Complex (TSC) Exhibit Propagation and Expansion of A-Intercalated, but Loss of B-Intercalated and Principal Cells: The Role of FOXI1, FOXP1, and DMRT2 Transcription Factors. [PDF]

Int J Mol Sci
Soleimani M, Zahedi K, Brooks M, In JG, Barone S.   +4 more
europepmc   +1 more source

TSC2 methylation is required for its stabilization

The Japanese Journal of SURGICAL METABOLISM and NUTRITION, 2021
Yuji Yamamoto, Tsukasa Suzuki, Jun Inoue
openaire   +2 more sources

Case Report: Acquired CDKN2A/B deletion and mTOR inhibitor resistance in TSC2-mutant metastatic epithelioid angiomyolipoma. [PDF]

Front Med (Lausanne)
He S, Yang J, Yang J, Li C, Shen J, Ye X, Liu Z, Shen W, Zheng J, Wang Y.   +9 more
europepmc   +1 more source

Translational dysregulation as a mechanistic driver of cognitive, behavioral, and affective phenotypes in FXS and TSC. [PDF]

Neurosci Biobehav Rev
Lawal S, Mujtaba M, Shrestha P.
europepmc   +1 more source

Correlations between TSC Expression and Menorrhagia in Adenomyosis Patients. [PDF]

Reprod Sci
Gu NH, Luo LJ, Yang NP, Yang YP, Li GJ, Ou-Yang J, Wei CX, Lin Y, Sun F, Yang SQ, Xu H.   +10 more
europepmc   +1 more source

ENT1 inhibitor J4 restores cognitive function and white-matter integrity in a mouse model of tuberous sclerosis complex. [PDF]

J Biomed Sci
Hsieh CC, Tsou YS, Huang NK, Chen TC, Li SJ, Chang CW, Lin WX, Tung SY, Chern Y, Chen YY, Lee YC.   +10 more
europepmc   +1 more source

A novel synonymous TSC2 mutation in a Chinese family leads to tuberous sclerosis type 2 by disrupting Normal pre-mRNA splicing. [PDF]

J Genet Eng Biotechnol
Zhang C, Li S, Leng R, Deng M, Yang G.
europepmc   +1 more source

Sea-blue histiocytosis and thrombocytopenia successfully treated with an mTORC1 inhibitor: a case report. [PDF]

Ann Hematol
Li H, Ma J, Hu Y, Ma J, Liu G, Wei Y, Yang C, Wu R.   +7 more
europepmc   +1 more source