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Mosaic Variegated Aneuploidy Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Through specific interactions with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M, the kinesins KIF3A and KIF3B, CEP57 mediates the nuclear translocation and mitogenic activity of FGF2, which is a pleiotropic growth factor involved in embryonic development, wound healing, angiogenesis, and tumor progression. Besides its role in the control of nucleocytoplasmic distribution of the cyclin D1 in quiescent cells, CEP57 also helps maintain stable interactions between microtubules and the kinetochore to ensure correct chromosomal number during cell division [16,17].
SNX29, a new susceptibility gene shared with major mental disorders in Han Chinese population
Published in The World Journal of Biological Psychiatry, 2021
Jian-Hua Chen, Ying Zhao, Raja Amjad Waheed Khan, Zhi-Qiang Li, Juan Zhou, Jia-Wei Shen, Si-Ying Xiang, Ning-Ning Li, Zu-Jia Wen, Xue-Min Jian, Zhi-Jian Song, Robert Stewart, Zhuo Wang, Dun Pan, Lin He, Yi-Feng Xu, Yong-Yong Shi
SNX29 genomic DNA is located in chromosome 16 at 11,976,734-12,574,287 (GRCh38). The gene is expressed at high level in human kidney, whole blood, lymph nodes and brain. SNX29 encodes sorting nexin 29 (size: 813 amino acids, molecular mass: 91,254 Da), which is a member of the sorting nexin family, localised in the cytoplasm and with the potential for membrane association. SNX29 contains an N-terminal RUN domain and a C-terminal Phox-homology (PX) domain. The RUN domain is found in GTPases in the Rap and Rab families and may play an important role in Ras-like signalling pathways (Callebaut et al. 2001). The lipid-binding PX domain may be involved in highly diverse functions, such as protein sorting, lipid modification, cell polarity and division, activation of T and B cells, cell signalling and cell survival (Wishart et al. 2001). SNX29 was also identified as a gene associated with higher metastatic potential and chemoresistance in epithelial ovarian carcinoma cells (Zhu et al. 2015) as well as in susceptibility to gastric cancer (Bao et al. 2018).
Advances in the use of cell penetrating peptides for respiratory drug delivery
Published in Expert Opinion on Drug Delivery, 2020
Larissa Gomes dos Reis, Daniela Traini
The protein TGF-ß is considered a major player in the pathogenesis of various respiratory diseases such as pulmonary fibrosis [63], asthma, COPD, emphysema, and lung cancer [64]. Due to the fundamental role of TGF-ß in normal tissue homeostasis/development, targeting the TGF-ß receptor or the direct ligand can lead to unwanted effects. Kang et al. [63], proposed the use of sorting nexin 9 (SNX9) as an inhibitor of SMAD3 to specifically target the profibrotic TGF-ß signaling pathway [63]. Successful delivery of the inhibitory peptide was achieved by fusing HIV TAT to the N-terminal 31-amino acid SNX9 fragment. The fused TAT-SNX9 construct efficacy was assessed in both AKR‐2B cells (non-transformed mouse embryo-derived cells) and a murine bleomycin model of pulmonary fibrosis, delivered via tracheal instillation using an intratracheal Penn-Century device. The authors showed a dose-dependent improvement in oxygen saturation levels to 80% when the highest dose of the TAT-SNX9 construct was administered to animals challenged with bleomycin for 28d. The interstitial level of fibronectin also decreased to basal levels and a dose-dependent reduction in collagen was observed in lung histology.