...TSC2 mutations in 68 patients (93%), corresponding to 71 distinct mutation sites. Fourteen variants (2 in TSC1, 12 in TS...
...TSC2 mutations in 9/17. All 5 cases with condensed eosinophilic cytoplasm uniformly harbored TSC1 mutations. Analysis of...
...TSC2 genes, resulting in constitutive mTOR signaling pathway activation, a central driver of tumorigenesis and a key the...
...TSC2 deletions and NTRK1 and ERBB3 amplifications found in a subset of cases. No pathogenic fusions were detected. Trans...
...Tsc2+/- MEFs. Mechanistically, Tsc1 or Tsc2 deletion reduced global H3K27me3, correlating with increased viability, acce...
...TSC2 frameshift mutation. The patient underwent open right partial nephrectomy. Histopathology demonstrated a malignant ...
...TSC2 may be warranted, especially as the diagnosis of TSC could mask these second neurodevelopmental disorders and knowl...
...TSC2 deletion and TERT copy number gain, and two (22%) with variants of uncertain significance only. Of the 12 (92%) pat...
...TSC2 (in addition to IκBα), and this association is reduced in thrombin-stimulated cells, suggesting a role of TSC2 in r...
...TSC2) is frequently mutated in sporadic LAM, and TSC2 expression/loss can now be demonstrated by immunohistochemistry bu...
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