PIK3CA-Related Overgrowth Spectrum

2019 ◽  
pp. 217-240
Author(s):  
Kim M. Keppler-Noreuil
Keyword(s):  
Cell Growth ◽  
Clinical Features ◽  
Tissue Specificity ◽  
Phenotypic Variability ◽  
Akt Pathway ◽  
Gain Of Function ◽  
Clinical Phenotypes ◽  
Segmental Overgrowth ◽  
Postzygotic Mutations ◽  
Cell Growth And Proliferation

Postzygotic mutations of the PIK3CA gene are associated with a series of clinical phenotypes characterized by segmental overgrowth and recently grouped under the term PIK3CA-related overgrowth spectrum (PROS). This chapter provides an overview of the clinical features shared by the phenotypes in PROS, including both the conditions with isolated features and the ones with syndromal presentation. The somatic overgrowth in cases with PROS is asymmetric, progressive, and “ballooning” in appearance and tends to involve predominantly the limbs, including fingers and toes, although the trunk and face are often affected as well. The tissues affected in the overgrowth can include all or some of these types: fibrous, adipose, vascular, nervous, and skeletal. Somatic gain-of-function mutations of PIK3CA cause activation of the PI3K-AKT pathway, leading to excessive cell growth and proliferation. Timing of PIK3CA mutations, tissue specificity, and type of mutation may play a role in the phenotypic variability of PROS.

scholarly journals Enhanced Myc Expression in Silkworm Silk Gland Promotes DNA Replication and Silk Production

Insects ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 361
Author(s):  
Wenliang Qian ◽  
Yan Yang ◽  
Zheng Li ◽  
Yuting Wu ◽  
Xuechuan He ◽  
...  
Keyword(s):  
Dna Replication ◽  
Cell Growth ◽  
Silk Gland ◽  
Biological Functions ◽  
Gland Cells ◽  
Silk Production ◽  
Myc Gene ◽  
Cell Growth And Proliferation ◽  
Silkworm Silk ◽  
Posterior Silk Gland

Silkworm is an economically important insect that synthetizes silk proteins for silk production in silk gland, and silk gland cells undergo endoreplication during larval period. Transcription factor Myc is essential for cell growth and proliferation. Although silkworm Myc gene has been identified previously, its biological functions in silkworm silk gland are still largely unknown. In this study, we examined whether enhanced Myc expression in silk gland could facilitate cell growth and silk production. Based on a transgenic approach, Myc was driven by the promoter of the fibroin heavy chain (FibH) gene to be successfully overexpressed in posterior silk gland. Enhanced Myc expression in the PSG elevated FibH expression by about 20% compared to the control, and also increased the weight and shell rate of the cocoon shell. Further investigation confirmed that Myc overexpression increased nucleus size and DNA content of the PSG cells by promoting the transcription of the genes involved in DNA replication. Therefore, we conclude that enhanced Myc expression promotes DNA replication and silk protein expression in endoreplicating silk gland cells, which subsequently raises silk yield.

microRNA 21-mediated suppression of sprouty1 by Pokemon affects liver cancer cell growth and proliferation

2013 ◽  
Vol 114 (7) ◽  
pp. 1625-1633 ◽  
Author(s):  
Xiu-Li Jin ◽  
Qin-Sheng Sun ◽  
Feng Liu ◽  
Hong-Wei Yang ◽  
Min Liu ◽  
...  
Keyword(s):  
Cell Growth ◽  
Liver Cancer ◽  
Cancer Cell ◽  
Liver Cancer Cell ◽  
Cancer Cell Growth ◽  
Cell Growth And Proliferation

scholarly journals The mechanism of full activation of tumor suppressor PTEN at the phosphatidylinositol-enriched membrane

2021 ◽  
Author(s):  
Hyunbum Jang ◽  
Iris Nira Smith ◽  
Charis Eng ◽  
Ruth Nussinov
Keyword(s):  
Drug Discovery ◽  
Cell Growth ◽  
Tumor Suppressor ◽  
Full Length ◽  
Detailed Mechanism ◽  
Explicit Solvent ◽  
Signaling Lipids ◽  
Cell Growth And Proliferation ◽  
First Time ◽  
Full Activation

AbstractTumor suppressor PTEN dephosphorylates signaling lipid PIP3 produced by PI3Ks. Abundant PIP3 promotes cell growth and proliferation. PTEN is the second most highly mutated protein in cancer and is drugless. The detailed mechanism at the membrane of this pivotal phosphatase is unknown hindering understanding and drug discovery. Here for the first time, exploiting explicit solvent simulations, we tracked full-length PTEN trafficking from the cytosol to the membrane, its interaction with membranes composed of zwitterionic phosphatidylcholine and anionic phosphatidylserine and phosphatidylinositol, including signaling lipids PIP2 and PIP3, and moving away from the zwitterionic and getting absorbed onto the anionic membrane that harbors the PIP3. PIP3 then allosterically unfolds the N-terminal PIP2 binding domain, translocating it to the membrane where its polybasic motif interacts with PIP2, localizing on microdomains enriched in signaling lipids, as PI3K does. Finally, we determined PTEN catalytic action at the membrane, all in line with available experimental observations.

scholarly journals RAS Function in cancer cells: translating membrane biology and biochemistry into new therapeutics

2020 ◽  
Vol 477 (15) ◽  
pp. 2893-2919
Author(s):  
Walaa E. Kattan ◽  
John F. Hancock
Keyword(s):  
Plasma Membrane ◽  
Cell Growth ◽  
Cancer Cells ◽  
Special Focus ◽  
Ras Proteins ◽  
Membrane Interactions ◽  
Multiple Methods ◽  
Membrane Biology ◽  
The Past ◽  
Cell Growth And Proliferation

The three human RAS proteins are mutated and constitutively activated in ∼20% of cancers leading to cell growth and proliferation. For the past three decades, many attempts have been made to inhibit these proteins with little success. Recently; however, multiple methods have emerged to inhibit KRAS, the most prevalently mutated isoform. These methods and the underlying biology will be discussed in this review with a special focus on KRAS-plasma membrane interactions.

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