10 research outputs found

    Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.

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    Acephalic spermatozoa, characterized by the headless sperm in the ejaculate, is a rare type of teratozoospermia. Here, we recruited two infertile patients with an acephalic spermatozoa phenotype to investigate the genetic pathology of acephalic spermatozoa. Whole-exome sequencing analysis was performed and found mutations in CEP112 in the two patients: homozygous mutation c.496C > T:p.(Arg166X) in exon 5 from P1; and the biallelic mutations c.2074C > T:p.(Arg692Trp) in exon 20 and c.2104C > T:p.(Arg702Cys) in exon 20 from P2. Sanger sequencing confirmed the CEP112 mutations in the two patients. In silico analysis revealed that these CEP112 mutations are deleterious and rare, and all the mutations impact the coiled-coil domain of CEP112, which may affect the protein function. The c.496C > T:p.Arg166X resulted in a truncated CEP112, which was verified by the mutation expression plasmid. The CEP112 expression was significantly reduced in the P2, suggesting the biallelic mutations c.2074C > T and c.2104C > T may affect the function and stability of CEP112. Therefore, we speculate that the loss-of-function mutations in CEP112 may be account for the human acephalic spermatozoa phenotype

    Functional brain network mapping with dual regression

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    Functional magnetic resonance imaging (fMRI) is an in-vivo non-invasive technique for measuring brain activity with excellent spatial and good temporal resolution. Without performing explicit tasks, resting-state fMRI (rfMRI) is widely used to map the functional connectivity network (FCN), which refers to a large-scale network of interdependent or functionally connected brain regions and it could be detected by using different algorithms (Zuo and Xing, 2014). Seed-based correlation is deemed as one of the most widely used method to identify FCN. This approach needs to extract a representative time series by averaging time series of all voxels within a small region of interest (ROI). While the selection of the ROI appears simple and straightforward, it becomes very challenging to determine an ROI for mapping representative activities of FCN including multiple distant areas

    Ethylene Polymerization and Copolymerization with Polar Monomers Using Nickel Complexes Bearing Anilinobenzoic Acid Methyl Ester Ligand

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    Neutral nickel complexes containing an anilinobenzoic acid methyl ester ligand are prepared and applied for the ethylene polymerization and copolymerization with polar monomers. The complex C2 containing isopropyl substituent on the aniline ligand conducts ethylene polymerization with high activity and good thermal stability. Most importantly, the catalyst promotes the copolymerization of ethylene and polar monomers with high activity (up to 277 kg·mol−1·h−1), affording ester-functionalized semicrystalline polyethylene with reasonable polar monomer content (up to 3.20 mol %)

    Developmental population neuroscience: emerging from ICHBD`

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    The 3rd International Conference on Human Brain Development(ICHBD)was held during October 10&ndash;15,2017 in Nanning,Guangxi,China.ICHBD was initiated in 2014 by Drs.Xi-Nian Zuo,Olaf Sporns and Michael P.Milham(co-chairs),and has been consistently supported by a major international collaboration grant from Natural Science Foundation of China(81220108014).The goal of ICHBD is to bring together international scientists from a range&nbsp;</p
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