http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
Clinical features of Senior-Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man
Harold Henrison C,Chiu,Ma,Sergia Fatima P,Sucaldito,Ebner Bon G,Maceda,Jan Andre S,Montemayor,Diana R,Tamondong-Lachica 대한의학유전학회 2020 대한의학유전학회지 Vol.17 No.1
The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephro-nophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the ἀrst few years of life while renal manifestations (e.g., formation of multiple cysts impairing kid-ney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging ἀndings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a ho-mozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364*). This sequence change created a prema-ture translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.
Marcela S. Tsuboy,Juliana C. Marcarini,Rodrigo C. Luiz,Iuri B. Barros,Dalva T. Ferreira,Lu´cia R. Ribeiro,Ma´rio S. Mantovani 한국식품영양과학회 2010 Journal of medicinal food Vol.13 No.3
Coccoloba mollis (Family Polygonaceae) is a medicinal plant popularly used in cases of memory loss, stress, insomnia, anemia, impaired vision, and sexual impotence, but the scientific literature, to date, lacks studies on the biological effects of this species, particularly with regard to cytotoxicity and induction of DNA damage. The aim of the present study was to assess in vitro (in hepatic HTC cells) ethanolic extracts of the roots and leaves of C. mollis for cytotoxicity, genotoxicity, and induction of apoptosis. For these evaluations the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) cytotoxicity assay, comet assay, micronucleus test with cytokinesis block, and an in situ test for detection of apoptotic cells with acridine orange staining were used. The results showed that the extract obtained from the roots of C. mollis is more cytotoxic than that obtained from the leaves and that the reduction in cell viability observed in the MTT assay was a result, at least in part, from the induction of apoptosis. Both extracts induced DNA damage at a concentration of 20μg/mL in the comet assay, but no genotoxicity was detected with any of the treatments carried out in the micronucleus test.
Jang, S.-B.,Ma, C.,Lee, J.-Y.,Kim, J.-H.,Park, S. J.,Kwon, A.-R.,Lee, B.-J. Oxford University Press 2009 The Journal of biochemistry Vol.146 No.5
<P>The HP0827 protein is an 82-residue protein identified as a putative ss-DNA-binding protein 12RNP2 Precursor from Helicobacter pylori. Here, we have determined 3D structure of HP0827 using Nuclear Magnetic Resonance. It has a ferredoxin-like fold, beta1-alpha1-beta2-beta3-alpha2-beta4 (alpha; alpha-helix and beta; beta-sheet) and ribonucleoprotein (RNP) motifs which are thought to be important in RNA binding. By using structural homologues search and analyzing electrostatic potential of surface, we could compared HP0827 with other RNA-binding proteins (sex-lethal, T-cell restricted intracellular antigen-1, U1A) to predict RNA-binding sites of HP0827. We could predict that beta sheets of HP0827, especially beta1 and beta3, are primary region for RNA binding. Consequently, similar to other RNA-binding proteins, RNP motifs (Y5, F45, F47), positively charged and hydrophobic regions (K32, R37, K40, K41, K43, R70, R73) are proposed as a putative RNA-binding sites. In addition, differences in amino acids composition of RNP motifs, N, C-terminal residues, loop-region fold and the orientation of alpha1-helix with other RNA recognition motif proteins could give specific biological functions to HP0827. Finally, the study on natural RNA target is also important to completely understand the biological function of HP0827.</P>
Ma, L D,Wang, J,WEI, C,Kuroiwa, T,Narukawa, T,Ito, N,HIOKI, A,CHIBA, K,Yim, Y H,Lee, K S,Lim, Y R,Turk, G C,Davis, C W,Mester, Z,Yang, L,McCooeye, M,Maxwell, P,Cankur, O,Tokman, N,Coskun, F G BUREAU INTERNATIONAL DES POIDS ET MESURES 2017 METROLOGIA -BERLIN- Vol.54 No.-
<P></P> <P>The CCQM-K97 key comparison was organized by the inorganic analysis working group (IAWG) of CCQM as a follow-up to completed pilot study CCQM-P96 and P96.1 to test the abilities of the national metrology institutes to accurately quantitate the mass fraction of arsenobetaine (AsB) in standard solution and in fish tissue. A pilot study CCQM-P133 was parallelized with this key comparison. National Institute of Metrology (NIM), China and National Metrology Institute of Japan (NMIJ) acted as the coordinating laboratories.</P> <P>Six NMIs participated in CCQM-K97 and two institutes participated in CCQM-P133, and all of them submitted the results. Some NMIs submitted more than one results by different methods. The results were in excellent agreement with each other, and obviously better than those of previous P96 and P96.1. Therefore the calibrant which each NMI used was comparable. It shows that the capabilities of some of the participants have been improved after the previous pilot studies.</P> <H2>Main text</H2> <P> To reach the main text of this paper, click on <A HREF='http://www.bipm.org/utils/common/pdf/final_reports/QM/K97/CCQM-K97.pdf'>Final Report</A>. Note that this text is that which appears in Appendix B of the BIPM key comparison database <A HREF='http://kcdb.bipm.org/'>kcdb.bipm.org/</A>.</P> <P>The final report has been peer-reviewed and approved for publication by the CCQM, according to the provisions of the CIPM Mutual Recognition Arrangement (CIPM MRA).</P>
Ma, R. C. W.,Hu, C.,Tam, C. H.,Zhang, R.,Kwan, P.,Leung, T. F.,Thomas, G. N.,Go, M. J.,Hara, K.,Sim, X.,Ho, J. S. K.,Wang, C.,Li, H.,Lu, L.,Wang, Y.,Li, J. W.,Wang, Y.,Lam, V. K. L.,Wang, J.,Yu, W.,Ki Springer-Verlag 2013 Diabetologia Vol.56 No.6
<P><B>Aims/hypothesis</B></P><P>Most genetic variants identified for type 2 diabetes have been discovered in European populations. We performed genome-wide association studies (GWAS) in a Chinese population with the aim of identifying novel variants for type 2 diabetes in Asians.</P><P><B>Methods</B></P><P>We performed a meta-analysis of three GWAS comprising 684 patients with type 2 diabetes and 955 controls of Southern Han Chinese descent. We followed up the top signals in two independent Southern Han Chinese cohorts (totalling 10,383 cases and 6,974 controls), and performed in silico replication in multiple populations.</P><P><B>Results</B></P><P>We identified <I>CDKN2A/B</I> and four novel type 2 diabetes association signals with <I>p</I> < 1 × 10<SUP>−5</SUP> from the meta-analysis. Thirteen variants within these four loci were followed up in two independent Chinese cohorts, and rs10229583 at 7q32 was found to be associated with type 2 diabetes in a combined analysis of 11,067 cases and 7,929 controls (<I>p</I><SUB>meta</SUB> = 2.6 × 10<SUP>−8</SUP>; OR [95% CI] 1.18 [1.11, 1.25]). In silico replication revealed consistent associations across multiethnic groups, including five East Asian populations (<I>p</I><SUB>meta</SUB> = 2.3 × 10<SUP>−10</SUP>) and a population of European descent (<I>p</I> = 8.6 × 10<SUP>−3</SUP>). The rs10229583 risk variant was associated with elevated fasting plasma glucose, impaired beta cell function in controls, and an earlier age at diagnosis for the cases. The novel variant lies within an islet-selective cluster of open regulatory elements. There was significant heterogeneity of effect between Han Chinese and individuals of European descent, Malaysians and Indians.</P><P><B>Conclusions/interpretation</B></P><P>Our study identifies rs10229583 near <I>PAX4</I> as a novel locus for type 2 diabetes in Chinese and other populations and provides new insights into the pathogenesis of type 2 diabetes.</P><P><B>Electronic supplementary material</B></P><P>The online version of this article (doi:10.1007/s00125-013-2874-4) contains peer-reviewed but unedited supplementary material, which is available to authorised users.</P>
Hardness of Porous Nanocrystalline Co-Ni Electrodeposits
C. Ma,S. C. Wang,R. J. K. Wood,J. Zekonyte,Q. Luo,F. C. Walsh 대한금속·재료학회 2013 METALS AND MATERIALS International Vol.19 No.6
The Hall-Petch relationship can fail when the grain size is below a critical value of tens of nanometres. This occurs particularly for coatings having porous surfaces. In this study, electrodeposited nanostructured Co-Ni coatings from four different nickel electroplating baths having grain sizes in the range of 11-23 nm have been investigated. The finest grain size, approximately 11 nm, was obtained from a coating developed from the nickel sulphate bath. The Co-Ni coatings have a mixed face centred cubic and hexagonal close-packed structures with varying surface morphologies and different porosities. A cluster-pore mixture model has been proposed by considering no contribution from pores to the hardness. As the porosity effect was taken into consideration, the calculated pore-free hardness is in agreement with the ordinary Hall- Petch relationship even when the grain size is reduced to 11 nm for the Co-Ni coatings with 77±2 at% cobalt. The present model was applied to other porous nanocrystalline coatings, and the Hall-Petch relationship was maintained.
Searching for Resonances in the Unbound 6Be Nucleus by Using a Radioactive 7Be Beam
채경육,D. W. Bardayan,J. C. Blackmon,M. S. Smith,A. E. Champagne,J. J. Das,R. P. Fitzgerald,D. W. Visser,V. Guimaraes,K. L. Jones,S. D. Pain,J. S. Thomas,M. S. Johnson,R. L. Kozub,R. J. Livesay,Z. Ma,C. 한국물리학회 2012 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.61 No.11
Knowledge of the <sup>3</sup>He(<sup>3</sup>He,<sup>2</sup><i>p</i>)<sup>4</sup>He reaction is important for understanding stellar burning and solar neutrino production. Previous measurements have found a surprisingly large rise in the cross section at low energies that could be due to a low-energy resonance in the <sup>3</sup>He + <sup>3</sup>He (<sup>6</sup>Be) system or electron screening. In the <sup>6</sup>Be nucleus, however, no excited states have been observed above the first 2<sup>+</sup> state at <i>E<sub>x</sub></i> = 1.67 MeV up to 23 MeV, even though several are expected. The <sup>2</sup>H(<sup>7</sup>Be,<sup>3</sup>H)<sup>6</sup>Be reaction has been studied for the first time to search for resonances in the <sup>6</sup>Be nucleus that may affect our understanding of the <sup>3</sup>He(<sup>3</sup>He,<sup>2</sup><i>p,</i>)<sup>4</sup>He reaction. A 100-MeV radioactive <sup>7</sup>Be beam from the Holifield Radioactive Ion Beam Facility (HRIBF) was used to bombard CD<sub>2</sub> targets, and tritons were detected by using the silicon detector array (SIDAR). A combination of reaction mechanisms appears to be necessary to explain the observed triton energy spectrum.