Aberrant sperm flagella impair sperm motility and cause male infertility, yet the genes which have been identified in multiple morphological abnormalities of the flagella (MMAF) can only explain the pathogenic mechanisms of MMAF in a small number of cases. Here, we identify and functionally characterize homozygous loss-of-function mutations of QRICH2 in two infertile males with MMAF from two consanguineous families. Remarkably, Qrich2 knock-out (KO) male mice constructed by CRISPR-Cas9 technology present MMAF phenotypes and sterility. To elucidate the mechanisms of Qrich2 functioning in sperm flagellar formation, we perform proteomic analysis on the testes of KO and wild-type mice. Furthermore, in vitro experiments indicate that QRICH2 is involved in sperm flagellar development through stabilizing and enhancing the expression of proteins related to flagellar development. Our findings strongly suggest that the genetic mutations of human QRICH2 can lead to male infertility with MMAF and that QRICH2 is essential for sperm flagellar formation.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and communication, along with repetitive and restrictive patterns of behaviors or interests. Normal brain development is crucial to behavior and cognition in adulthood. Abnormal brain development, such as synaptic and myelin dysfunction, is involved in the pathogenesis of ASD. Microtubules and microtubule-associated proteins (MAPs) are important in regulating the processes of brain development, including neuron production and synaptic formation, as well as myelination. Increasing evidence suggests that the level of MAPs are changed in autistic patients and mouse models of ASD. Here, we discuss the roles of MAPs.

Photoelectrocatalytic (PEC) reduction of CO2 to hydrocarbons provides a great technique for CO2 utilization, renewable energy transformation, and storage. Iron disulfide (FeS2), as an earth-abundant and nontoxic semiconductor, has narrow band gap energy, high photovoltaic conversion efficiency, and light absorption, making it very promising as a photoelectrode in a PEC cell. Herein, novel worm-like FeS2/TiO2 nanotubes (NTs) was prepared by introducing FeS2 on TiO2 NTs and exhibited excellent PEC performance for CO2 reduction to methanol. X-ray photoelectron spectroscopy (XPS), scanning electron microscopy (SEM), and high-resolution transmission electron microscopy (HRTEM) showed that worm-like FeS2 was densely packed on the TiO2 NT substrate. By introduction of FeS2 on TiO2 NTs, the visible light absorption was improved greatly and the energy band gap energy was narrowed to 1.70 eV, which significantly enhanced the photocatalytic performance under visible light. Furthermore, the resistance was reduced with increasing electrocatalytic ability. The major product of PEC reduction of CO2 was methanol, reaching 91.7 μmol h–1 L–1.

This study aimed to investigate the potential associations between carotid intima-media thickness and cognitive impairment among patients with acute ischemic stroke and to identify the clinical implications. We measured carotid intima-media thickness (IMT) and performed the Mini-Mental State Examination (MMSE) upon the admission of 1,826 acute ischemic stroke patients. The association between IMT and cognitive impairment evaluated by the MMSE was assessed with a multivariate regression analysis. Other clinical variables of interest were also assessed. After adjusting for potential confounders, participants in the highest IMT quartile had a higher likelihood of having cognitive impairments compared with the lowest IMT quartile (odds ratio: 3.01, 95% confidence interval: 2.07–4.37, p < 0.001). Stratified analyses indicated that this positive correlation was similar for the maxIMT and meanIMT of carotid artery measurements. A positive correlation was found between IMT and cognitive impairment in participants with acute ischemic stroke.

The gene encoding isocitrate dehydrogenase (IDH) is somatically mutated predominantly in secondary glioblastoma multiforme. Mutations of IDH1 and IDH2 lead to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively. Lithium chloride was recently proved efficient in inhibiting glioma cell migration. The mechanism of lithium chloride on C6 glioma cells harboring IDH2 mutation has not been studied. Here, we found lithium chloride induced inhibitive effects on cell proliferation of both C6 glioma cells with and without IDH2 mutation, although IDH2 mutation increased the stability of HIF-1α. GSK-3β could be phosphorylated at Ser9 and its activity was inhibited when C6 glioma cells were treated by lithium chloride. The degree of phosphorylation in IDH2(R172G) treatment group was lower than that as compared to the control and IDH2 treatment groups. At the same time, the accumulation of β-catenin in C6 cell nucleus was decreased. Moreover, although the β-catenin and HIF-1α increased the secretion of metalloproteinase-2,-9 in C6 glioma cells harboring IDH2 mutation, the migration potential of lithium chloride-treated C6 glioma cells harboring the IDH2 and its mutant was uniform. These results indicated lithium chloride could decrease the proliferation and migration potential of C6 glioma cells harboring IDH2 mutation.