...TSC1, WRN, and MLH1. The median age at diagnosis was 9.1 years, and three of the 7 patients had a family history of canc...
...TSC1 and DEPDC5 (CKM-TD). CKM-TD mice produced myopathy, associated with loss of skeletal muscle mass and force, as well...
To analyze variants of TSC1 and TSC2 genes in a Chinese patient with tuberous sclerosis complex (TSC). Peripheral blood ...
...TSC1, CTH, GCLM, IRS2 and SESN2) whose predicted DR-relatedness remain to be validated in future wet-lab experiments. Th...
...TSC1 and TSC2 genes in the dysplastic brain tissue but not peripheral blood. Paired whole-exome sequencing was performed...
...TSC1/TSC2 genes, which result in alterations in molecular signalling pathways involved in neurogenesis and hamartomas in...
...TSC1 mutations (n = 1), biallelic loss of PTEN and TSC1 deletion (n = 1), and MET amplification and TSC1 inactivating mu...
...TSC1 or TSC2 which causes multiorgan growths. TSC presents at any age as a wide range of clinical and phenotypic manifes...
...TSC1)-knockout mice to explore the roles of the mTOR pathway in modulating autophagy during sepsis. We observed reduced ...
...TSC1. In contrast, none of these alterations were identified in MUMPs; however, one MUMP harboured a TRAF7 missense muta...
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