WebTuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the … WebThis test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the TSC1 and TSC2 genes associated with tuberous sclerosis complex. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, recurrence risk assessment, and genetic counseling ...
TSC2 Mutation - My Cancer Genome
WebDec 6, 2024 · Tuberous sclerosis is a genetic disorder caused by gene changes — sometimes called mutations — in either the TSC1 or the TSC2 gene. These genes are thought to prevent cells from growing too fast or in an out-of-control way. Changes in either of these genes can cause cells to grow and divide more than needed. WebJan 19, 2024 · The majority of hereditary tumor syndromes involve germline mutations, which effectively inactivate tumor suppressor genes (for example TSC1 and TSC2), whereby cells with a bi-allelic inactivation ... small bathroom cabinet brown
Hyperbaric oxygen relieves neuropathic pain through AKT/TSC2…
WebAkt 通过作用于 TSC1/TSC2 复合体以及 mTORC 信号转导,进而调节细胞生长。Akt 通过磷酸化 CDK 的抑制剂 p21 和 p27,进而影响细胞增殖。Akt 是细胞存活的主要调节因子,通过直接抑制促凋亡蛋白(如 Bad)或抑制由转录因子(如 FoxO)产生促凋亡信号实现调节。 WebJan 14, 2024 · 结节性硬化症蛋白复合体(TuberousSclerosisComplex,简称TSC复合体)是mTORC1信号通路中重要的蛋白质复合体,其整合细胞外各种因素的刺激,负调控mTORC1复合体的活性,起到肿瘤抑制的作用。TSC复合体包含三个亚基:TSC1,TSC2以及TBC1D7。其中TSC2包含一个GTP酶活化蛋白(GTPaseactivatingprotein,简称GAP)结构域 ... WebGene Location [ 1] 16p13.3. Pathway. PI3K/AKT1/MTOR. Gene. TSC2. TSC2 Mutation is present in 2.81% of AACR GENIE cases, with lung adenocarcinoma, colon … small bathroom cabinet design