National Health and Family Planning Commission

About: National Health and Family Planning Commission is a government organization based out in Beijing, China. It is known for research contribution in the topics: Population & Kashin–Beck disease. The organization has 2379 authors who have published 1440 publications receiving 20078 citations. The organization is also known as: Ministry of Health of the People's Republic of China.

Long noncoding RNA expression profile reveals lncRNAs signature associated with extracellular matrix degradation in kashin-beck disease.

Abstract: Kashin-Beck disease (KBD) is a deformative, endemic osteochondropathy involving degeneration and necrosis of growth plates and articular cartilage. The pathogenesis of KBD is related to gene expression and regulation mechanisms, but long noncoding RNAs (lncRNAs) in KBD have not been investigated. In this study, we identified 316 up-regulated and 631 down-regulated lncRNAs (≥ 2-fold change) in KBD chondrocytes using microarray analysis, of which more than three-quarters were intergenic lncRNAs and antisense lncRNAs. We also identified 232 up-regulated and 427 down-regulated mRNAs (≥ 2-fold change). A lncRNA-mRNA correlation analysis combined 343 lncRNAs and 292 mRNAs to form 509 coding-noncoding gene co-expression networks (CNC networks). Eleven lncRNAs were predicted to have cis-regulated target genes, including NAV2 (neuron navigator 2), TOX (thymocyte selection-associated high mobility group box), LAMA4 (laminin, alpha 4), and DEPTOR (DEP domain containing mTOR-interacting protein). The differentially expressed mRNAs in KBD significantly contribute to biological events associated with the extracellular matrix. Meanwhile, 34 mRNAs and 55 co-expressed lncRNAs constituted a network that influences the extracellular matrix. In the network, FBLN1 and LAMA 4 were the core genes with the highest significance. These novel findings indicate that lncRNAs may play a role in extracellular matrix destruction in KBD.

Boronic Acid-Modified Magnetic Fe 3 O 4 @mTiO 2 Microspheres for Highly Sensitive and Selective Enrichment of N-Glycopeptides in Amniotic Fluid

Abstract: Although mesoporous materials and magnetic materials are used to enrich glycopeptides, materials sharing both mesoporous structures and magnetic properties have not been reported for glycopeptide analyses. Here we prepared boronic acid-modified magnetic Fe3O4@mTiO2 microspheres by covalent binding of boronic acid molecules onto the surfaces of silanized Fe3O4@mTiO2 microspheres. The final particles (denoted as B-Fe3O4@mTiO2) showed a typical magnetic hysteresis curve, indicating superparamagnetic behavior; meanwhile, their mesoporous sizes did not change in spite of the reduction in surface area and pore volume. By using these particles together with conventional poly(methyl methacrylate) (PMMA) nanobeads, we then developed a synergistic approach for highly specific and efficient enrichment of N-glycopeptides/glycoproteins. Owing to the introduction of PMMA nanobeads that have strong adsorption towards nonglycopeptides, the number of N-glycopeptides detected and the signal-to-noise ratio in analyzing standard proteins mixture both increased appreciably. The recovery of N-glycopeptides by the synergistic method reached 92.1%, much improved than from B-Fe3O4@mTiO2 alone that was 75.3%. Finally, we tested this approach in the analysis of amniotic fluid, obtaining the maximum number and ratio of N-glycopeptides compared to the use of B-Fe3O4@mTiO2 alone and commercial SiMAG-boronic acid particles. This ensemble provides an interesting and efficient enrichment platform for glycoproteomics research.

Exome sequencing identifies FATP1 mutation in Melkersson–Rosenthal syndrome

Abstract: Editor Melkersson–Rosenthal syndrome (MRS, MIM 155900) is a rare neuromucocutaneous syndrome marked by the triad of unior bilateral facial paralysis, chronic swelling of the face and fissured tongue. Here, we employed exome sequencing to identify potential mutations for MRS. A Chinese Han family of MRS was identified (Fig. 1a-d, f). The study protocol was approved by the Institutional Review Board on Bioethics and Biosafety of BGI. The proband (III 3) developed peripheral facial palsy twice on the right face and suffered repeatedly lower lip and cheek oedema since 12. A biopsy of her lower lip showed well-organized non-caseating granulomas with mononuclear inflammatory cells, oedema and a perivascular lymphocytic infiltrate (Fig. 1e). Fissured tongue was also noticed in II3, II5 and III 3(Fig. 1b-d). Two affected (II5 and III3) and one unaffected individuals (II7) were subjected to exome sequencing. The data that mapped to the targeted region had a mean depth of 135.48-fold, and 99.49% of the targeted bases were covered. Bioinformatics analysis processes were performed as reported. Finally, three variants in three genes (FATP1, FLI1, CACNA1H) with greatest likelihood of relevance were checked by Sanger sequencing. Only the heterozygous mutation c.68C>G of FATP1 co-segregated with the phenotype and was observed neither in unaffected family members nor in 200 normal controls (Fig. 1g). Fatty acid transport proteins (FATPs) are involved in fatty acid uptake and metabolism. FATP1 is robustly expressed in skin. The 3D spatial structure models showed the arginine in mutant FATP1 significantly increased the polarity of amino acids compared to proline at the 23rd codon in wild FATP1 (Fig. 1h-i). As this mutation is located in the transmembrane functional domain, it should affect the structure and activity of FATP1. Therefore, FATP1 was considered the causative gene. To further test our hypothesis, wild and mutant FATP1 were separately subcloned into pcDNA3.1(+) and transfected into