[Genetic diagnosis for a pedigree affected with hereditary nephrogenic diabetes insipidus].

OBJECTIVE: To explore the genetic basis for pedigree affected with hereditary nephrogenic diabetes insipidus (HNDI). METHODS: Next generation sequencing (NGS) with an osteology system gene panel was carried out for the proband. Suspected mutation was validated by Sanger sequencing of two relatives with similar symptoms and two unaffected relatives from the pedigree. RESULTS: The proband was found to carry a c.856C>T mutation of the AVPR2 gene. The same mutation was detected in the two relatives with similar symptoms and one unaffected healthy relative. CONCLUSION: The HNDI in this pedigree may be attributed to the c.856C>T mutation of the AVPR2 gene.

Nerolidol inhibited U-251 human glioblastoma cell proliferation and triggered apoptosis via the upregulation of the p38 MAPK signaling pathway.

BACKGROUND: Glioblastoma multiforme (GBM) is a lethal brain tumor with high mortality and morbidity. Nerolidol (NRD) is a sesquiterpene alcohol sequestered from the essential oils of aromatic florae with potent antioxidant, antiviral, anticancer, cardioprotective, and neuroprotective activity. OBJECTIVES: The aim of the study was to investigate the underlying cell-cycle mechanisms of NRD-mediated antiproliferative and apoptosis activities in GBM using human U-251 cells. MATERIAL AND METHODS: The current research investigated the antiproliferative and apoptotic activities of NRD on U-251 cells. The effects of NRD were measured using a Cell Counting Kit-8 (CCK-8) assay, 4',6-diamidino-2-phenylindole (DAPI) staining, messenger ribonucleic acid (mRNA) level assessment, and western blot assay. RESULTS: Nerolidol decreased U-251 viability in a dose-dependent manner, as well as induced apoptotic activity, reduced B-cell lymphoma-2 (BCL-2) levels, and increased mRNA expression of BCL-2-associated X (Bax), caspase-3 and caspase-9. The attenuation of the cyclin-D1, cyclin-dependent kinase 4 (CDK4) and CDK6 mRNA expression confirmed cell cycle regulation. Western blot analysis of CDK1 indicated reductions in cyclin-B1 and p21. Furthermore, NRD prompted apoptosis through p38 amelioration and increased phosphorylated extracellular signal-related kinase 1 (p-ERK1) and phosphorylated c-Jun N-terminal protein kinase 1 (p-JNK1) levels. CONCLUSIONS: Nerolidol inhibited GBM cell viability and induced apoptosis through the regulation of cell-cycle proteins via p38 mitogen-activated protein kinase (MAPK) signaling pathways. Thus, NRD could be developed as a potential natural therapeutic agent for GBM.

The mimic of type II aldolases chemistry: asymmetric synthesis of beta-hydroxy ketones by direct aldol reaction.

An efficient direct aldol reaction has been developed for the synthesis of chiral beta-hydroxy ketone using a combination of C(1)-symmetric chiral prolinamides based on o-phenylenediamine and zinc triflate as catalyst. The reaction was convenient to carry out in aqueous media with up to 98% chemical yields and up to 94% ee values. The current strategy can be regarded as the analogue of aldolase type II, which suggests a new pathway for the designing of new organocatalysts.