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Genome-Wide Analysis of Genetic Predispositions Linked to Damaged Membranes and…

Dementieva(NV),Nikitkina(EV),Shcherbakov(YS)… Front Biosci (Schol Ed) 2025-01-22

...TSC1, CASZ1, and PLEKHM2 for sperm cell respiration induction. Our findings provide important information for understand...

Genomic Signature for Initial Brain Metastasis Velocity (iBMV) in Non-Small-Cel…

Glynn(SE),Lanier(CM),Choi(AR),D'Agostino(R),… Cancers (Basel) 2025-03-15

...TSC1; "protective genes" included ARAF, IDH1, MYC, and PTPN11. iBMV risk scores of 1, 0 and -1, predicted an 88%, 61% an...

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natur…

de Vries(PJ),Belousova(E),Benedik(MP),Carter… Orphanet J Rare Dis 2018-00-10

...TSC1 and TSC2 genotypes, as well as in those with no mutations identified. However, the high rates of unreported or miss...

Silent gonadotroph pituitary neuroendocrine tumor in a patient with tuberous sc…

Regazzo(D),Gardiman(MP),Theodoropoulou(M),Sc… Endocrinol Diabetes Metab Cas… 2018-00-00

...TSC1) and tuberin (TSC2), controlling cell growth and proliferation. Here, we present the case of a 62-year-old Caucasia...

Somatic Mutations of TSC2 or MTOR Characterize a Morphologically Distinct Subse…

Chen(YB),Mirsadraei(L),Jayakumaran(G),Al-Ahm… Am J Surg Pathol 2019-00-00

...TSC1-TSC2 complex or the mTOR complex 1 pathway. Recognition of their characteristic morphologic and immunophenotypic fe...

Prospective Genotyping of Hepatocellular Carcinoma: Clinical Implications of Ne…

Harding(JJ),Nandakumar(S),Armenia(J),Khalil(… Clin Cancer Res 2019-04-01

...TSC1/2 (8.5%) inactivating/truncating mutations, FGF19 (6.3%) and MET (1.5%) amplifications, and IDH1 missense mutations...

Primary malignant melanoma of esophagus: clinicopathologic characterization of …

Lasota(J),Kowalik(A),Felisiak-Golabek(A),Zię… Mod Pathol 2019-00-00

...TSC1 p.H371Q) was the sole change in the third case. SF3B1 p.K666T and p.R625C mutations were detected in two cases. How...

Non-alcoholic Fatty Liver Disease Induced by Perinatal Exposure to Bisphenol a …

Lin(R),Wu(D),Wu(FJ),Meng(Y),Zhang(JH),Wang(X… Front Endocrinol (Lausanne) 2019-00-00

...TSC1, and TSC2 were decreased, p-PI3K, p-Akt (S473), p-Akt (T308), p-mTOR, and mTOR were increased, and the impaired aut...

Regulation of the Rheb GTPase via GATOR1 Complex.

Prabhakar(A),Mair(WB) bioRxiv 2025-12-23

...TSC1-TSC2-TBC1D7) inhibits Rheb. Despite the prevailing view that these pathways converge only at mTORC1 itself, several...

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Com…

Marques(R),Belousova(E),Benedik(MP),Carter(T… Front Neurol 2019-00-00

...TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TS...

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