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Currarino Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Structurally, MNX1 comprises a polyalanine repeat region and a homeobox domain, which underscore its DNA-binding transcription factor activity and contribute to pancreas development and function through interaction with neural stem cell differentiation pathways and lineage-specific markers.
Virtual screening and zebrafish models in tandem, for drug discovery and development
Published in Expert Opinion on Drug Discovery, 2023
David Hernández-Silva, Francisca Alcaraz-Pérez, Horacio Pérez-Sánchez, Maria Luisa Cayuela
Amyotrophic lateral sclerosis (ALS) is a devastating degenerative neuromuscular disease with an approximate incidence rate of 2/100,000, and [Cu-Zn] superoxide dismutase 1 (SOD1) was the first gene identified in ALS. The human SOD1 protein, when mutated, is more likely to induce other SOD1 wildtype proteins to misfold in a prion-like manner. A tryptophan residue at position 32 (W32) is predicted to participate in SOD1 misfolding and, therefore, in the toxic gain of function [97]. The tryptophan at this residue is not well conserved, being serine in mice and threonine in zebrafish. The transgenic embryos mnx1: GFP (where GFP expression is driven by mnx1 promoter in motor neurons) were humanized by SOD1 wt and human SOD1 variant with W32 substituted for a serine (SOD1W32S). Substitution of tryptophan to serine prevented SOD1 toxicity, meaning that axonopathy and motor deficits were rescued.
The role of microRNA in cisplatin resistance or sensitivity
Published in Expert Opinion on Therapeutic Targets, 2020
Shanshan Wang, Ming-Yue Li, Yi Liu, Alexander C Vlantis, Jason YK Chan, Lingbin Xue, Bao-Guang Hu, Shucai Yang, Mo-Xian Chen, Shaoming Zhou, Wei Guo, Xianhai Zeng, Shuqi Qiu, C Andrew van Hasselt, Michael CF Tong, George G Chen
miRNA has also been reported as prognosis markers for some cancers. Zeng et al. found that miR-222 decreased cisplatin-induced cell death by targeting the PPP2R2A/Akt/mTOR axis in bladder cancer. The increase of miR-222 is associated with poor prognosis in bladder cancer patients [96]. Zhang et al. have identified 4-lncRNA signature that can predict prognosis in patients with laryngeal cancer. They used Cox regression analysis to identify lncRNA first, and then the receiver operating characteristic (ROC) curves and area under the curve (AUC) were used to verify the validity of this Cox regression model. Gene ontology (GO) enrichment analysis was used to clarify the possible mechanisms underlying their predictive ability. They have concluded that LINC02154 and MNX1-AS1 are risk factors for laryngeal cancer, whereas MYHAS and LINC01281 appear to be protective factors. LncRNA MYHAS and LINC01281 were associated with a better prognosis among laryngeal cancer patients. Hence, this novel 4-lncRNA signature could be used to predict overall survival for laryngeal cancer patients. But further studies should be conducted to underline the overall mechanism by which these lncRNAs influence the prognosis of laryngeal cancer. And also, most of these results mentioned still need to be verified by basic experiments and clinical trials [84].