Identification of a novel <i>FAM83H</i> mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta

Hyun, H.-K.,Lee, S.-K.,Lee, K.-E.,Kang, H.-Y.,Kim, E.-J.,Choung, P.-H.,Kim, J.-W. Blackwell Publishing Ltd 2009 International endodontic journal Vol.42 No.11

<P>Abstract</P><P>Aim </P><P>To determine the underlying molecular genetic aetiology of a family with the hypocalcified form of amelogenesis imperfecta and to investigate the hardness of the enamel and dentine of a known <I>FAM83H</I> mutation.</P><P>Methodology </P><P>Mutational screening of the <I>FAM83H</I> on the basis of candidate gene approach was performed. All exons and exon–intron boundaries was amplified and sequenced. A microhardness test was performed to measure the Vickers microhardness value.</P><P>Results </P><P>A novel nonsense mutation (c.1354C>T, p.Q452X) was identified in the last exon of <I>FAM83H</I>, which resulted in soft, uncalcified enamel. The affected enamel was extremely soft (about 17% of the normal control), but the underlying dentine was as hard as the normal control.</P><P>Conclusions </P><P>Mutational analysis revealed a novel mutation in <I>FAM83H</I> gene. Hardness of dentine was not affected by the mutation, whilst the enamel was extremely soft.</P>

Prognostic value of chronic total occlusions detected on coronary computed tomographic angiography

Opolski, Maksymilian P,Gransar, Heidi,Lu, Yao,Achenbach, Stephan,Al-Mallah, Mouaz H,Andreini, Daniele,Bax, Jeroen J,Berman, Daniel S,Budoff, Matthew J,Cademartiri, Filippo,Callister, Tracy Q,Chang, Hy BMJ Group 2019 Heart Vol.105 No.3

<P><B>Objective</B></P><P>Data describing clinical relevance of chronic total occlusion (CTO) identified by coronary CT angiography (CCTA) have not been reported to date. We investigated the prognosis of CTO on CCTA.</P><P><B>Methods</B></P><P>We identified 22 828 patients without prior known coronary artery disease (CAD), who were followed for a median of 26 months. Based on CCTA, coronary lesions were graded as normal (no atherosclerosis), non-obstructive (1%–49%), moderate-to-severe (50%–99%) or totally occluded (100%). All-cause mortality, and major adverse cardiac events defined as mortality, non-fatal myocardial infarction and late coronary revascularisation (≥90 days after CCTA) were assessed.</P><P><B>Results</B></P><P>The distribution of patients with normal coronaries, non-obstructive CAD, moderate-to-severe CAD and CTO was 10 034 (44%), 7965 (34.9%), 4598 (20.1%) and 231 (1%), respectively. The mortality rate per 1000 person-years of CTO patients was non-significantly different from patients with moderate-to-severe CAD (22.95; 95% CI 12.71 to 41.45 vs 14.46; 95% CI 12.34 to 16.94; p=0.163), and significantly higher than of those with normal coronaries and non-obstructive CAD (p<0.001 for both). Among 14 382 individuals with follow-up for the composite end point, patients with CTO had a higher rate of events than those with moderate-to-severe CAD (106.56; 95% CI 76.51 to 148.42 vs 65.45; 95% CI 58.01 to 73.84, p=0.009). This difference was primarily driven by an increase in late revascularisations in CTO patients (27 of 35 events). After multivariable adjustment, compared with individuals with normal coronaries, the presence of CTO conferred the highest risk for adverse cardiac events (14.54; 95% CI 9.11 to 23.20, p<0.001).</P><P><B>Conclusions</B></P><P>The detection of CTO on non-invasive CCTA is associated with increased rate of late revascularisation but similar 2-year mortality as compared with moderate-to-severe CAD.</P><P><B>Trial registration number</B></P><P> NCT01443637.</P>

Development of multifunctional metabolic synergists to suppress the evolution of resistance against pyrethroids in insects that blood feed on humans

Hardstone, Melissa C,Strycharz, Joseph P,Kim, Junheon,Park, Il‐,Kwon,Yoon, Kyong Sup,Ahn, Young Joon,Harrington, Laura C,Lee, Si Hyeock,Clark, J Marshall John Wiley Sons, Ltd 2015 Pest Management Science Vol.71 No.6

<P><B>Abstract</B></P><P><B>BACKGROUND</B></P><P>Pyrethroids are the insecticides of choice when exposure to humans is likely, such as occurs in vector and public‐health‐related control programs. Unfortunately, the pyrethroids share a common resistance mechanism with dichlorodiphenyltrichloroethane (DDT), knockdown resistance (<I>kdr</I>), and prior extensive use of DDT has predisposed the pyrethroids to cross‐resistance via <I>kdr</I>. Given the widespread occurrence of <I>kdr</I>, the use of synergists with pyrethroids is considered to be prudent to guard against the selection of multiply resistant insects.</P><P><B>RESULTS</B></P><P>3‐Phenoxybenzyl hexanoate (PBH) was synthesized as a multifunctional pyrethroid synergist that, besides being a surrogate substrate for sequestration/hydrolytic carboxylesterases, now also functions as a substrate for oxidative xenobiotic metabolism. The addition of PBH to permethrin‐treated females of the ISOP450 strain of <I>Culex pipiens quinquefasciatus</I> resulted in a threefold increase in synergism, as judged by the synergistic ratio. Similarly, PBH synergized the action of deltamethrin sixfold on females of the common bed bug, <I>Cimex lectularius</I>, and was 2.8‐fold more synergistic than piperonyl butoxide (PBO).</P><P><B>CONCLUSIONS</B></P><P>PBH synergized the action of both type I and type II pyrethroids in a mosquito vector (<I>Cx. p. quinquefasciatus</I>) and in a public‐health pest, <I>C. lectularius</I>, respectively, indicating a broad spectrum of action on blood‐feeding insects. PBH appears to have residual properties similar to permethrin and is itself non‐toxic, unlike PBO, and therefore should be compatible with existing pyrethroid formulations used for insecticide‐treated nets and home/residential sprays. © 2014 Society of Chemical Industry</P>

Controlling the interchain packing and photovoltaic properties via fluorine substitution in terpolymers based on benzo[1,2-c:4,5-c']dithiophene-4,8-dione and benzothiadiazole units

Kini, Gururaj P.,Choi, Jun Young,Jeon, Sung Jae,Suh, Il Soon,Moon, Doo Kyung Elsevier 2018 Polymer Vol.148 No.-

<P><B>Abstract</B></P> <P>We present a series of three terpolymers involving benzo [1,2-c:4,5-c']dithiophene-4,8-dione (BDD) and benzothiadiazole (BT) as acceptor units, and oligothiophene as the donor unit (PBDD-TnFBT terpolymers). We optimized the structures of these terpolymers by varying the number of fluorine (F) atoms on the BT unit and studied its effects on photovoltaic performance (<B>P1</B> (BT), <B>P2</B> (FBT), and <B>P3</B> (2FBT)). Density functional theory analysis, optical-electrochemical analysis, and X-ray diffraction study revealed that the fluorination of BT significantly decreased frontier energy levels, enhanced both intermolecular interactions and planarization of polymer backbone in the resulted polymers. As a result, <B>P3,</B> having two F substituents on BT, exhibited stronger intermolecular interactions, predominant face-on orientation with a shorter π-π stacking distance of 3.51 Å, high hole mobility, and optimal nanoscale morphology compared to single F substituent (<B>P2</B>) and zero F substituent (<B>P1</B>) counterparts. Consequently, polymer solar cells based on <B>P3</B> demonstrated higher power conversion efficiency (PCE) of 6.2% than those based on <B>P1</B> and <B>P2</B> (1.4 and 1.7% respectively). This study illustrates the interrelation between the degree of fluorination and photovoltaic performance and effectively contributes to the design of high-PCE polymer donors for photovoltaic application.</P> <P><B>Highlights</B></P> <P> <UL> <LI> Three terpolymers involving BDD and BT with the different number of fluorine (F) atoms were introduced. </LI> <LI> The interrelation between the degree of fluorination with charge transport behavior and polymer performance in PSC were investigated. </LI> <LI> Fluorination of BT significantly decreased frontier energy levels and enhanced intermolecular interactions in polymers. </LI> <LI> The PCE of PSCs was greatly improved from P1 (BT) 1.4% to 6.2 % P3 (2FBT) by the addition of F-atoms. </LI> </UL> </P> <P><B>Graphical abstract</B></P> <P>[DISPLAY OMISSION]</P>

Synthesis of C₆₀-end capped P3HT and its application for high performance of P3HT/PCBM bulk heterojunction solar cells

Lee, Jea Uk,Jung, Jae Woong,Emrick, Todd,Russell, Thomas P.,Jo, Won Ho Royal Society of Chemistry 2010 Journal of materials chemistry Vol.20 No.16

<P>A new C<SUB>60</SUB>-end capped poly(3-hexylthiophene) (P3HT-C<SUB>60</SUB>) was synthesized <I>via</I> a simple three-step process, and used as a compatibilizer for P3HT/PCBM composite for the purpose of controlling the morphology of P3HT/PCBM composite film, and thus improving the long-term thermal stability of solar cell performance. When a small amount of P3HT-C<SUB>60</SUB> was added to P3HT/PCBM, the bicontinuous and nanometre-scale film morphology was developed and preserved for 2 h of annealing at 150 °C. Furthermore, the addition of P3HT-C<SUB>60</SUB> as a compatibilizer suppressed large-scale phase separation of P3HT/PCBM composite even after prolonged annealing time (8 days), and as a result, the P3HT/PCBM/P3HT-C<SUB>60</SUB> bulk heterojunction solar cells exhibited the excellent long-term thermal stability of device performance.</P> <P>Graphic Abstract</P><P>A new C<SUB>60</SUB>-end capped poly(3-hexylthiophene) was synthesized <I>via</I> a simple three-step process, and used as a compatibilizer for P3HT/PCBM composite for the purpose of controlling the morphology of P3HT/PCBM composite film and thus improving the long-term thermal stability of solar cell performance. <IMG SRC='http://pubs.rsc.org/services/images/RSCpubs.ePlatform.Service.FreeContent.ImageService.svc/ImageService/image/GA?id=b923752f'> </P>

Feasibility of proposed single-nucleotide polymorphisms as predictive markers for targeted regimens in metastatic colorectal cancer

Kim, J C,Ha, Y J,Roh, S A,Choi, E Y,Yoon, Y S,Kim, K P,Hong, Y S,Kim, T W,Cho, D H,Kim, S Y,Kim, Y S Nature Publishing Group 2013 The British journal of cancer Vol.108 No.9

<P><B>Background:</B></P><P>Surrogate biomarkers for metastatic colorectal cancer (mCRC) are urgently needed to achieve the best outcomes for targeted therapy.</P><P><B>Methods:</B></P><P>A clinical association analysis was performed to examine the three single-nucleotide polymorphisms (SNPs) that were previously proposed as markers of chemosensitivity to the cetuximab (124 patients) and bevacizumab regimens (100 patients) in mCRC patients. In addition, biological correlations were examined for the candidate SNPs in terms of their regulatory pathway.</P><P><B>Results:</B></P><P>For cetuximab regimens, patients homozygous for the wild-type alleles (<I>GG</I>) of <I>LIFR rs3729740</I> exhibited a 1.9 times greater overall response rate (ORR) and 1.4 months longer progression-free survival (PFS) than those homozygous or heterozygous for the mutant allele (<I>GA</I> and <I>AA</I>; <I>P</I>=0.022 and 0.027, respectively). For bevacizumab regimens, patients homozygous for the minor alleles (<I>TT</I>) of <I>ANXA11 rs1049550</I> exhibited an ORR twice as high as those homozygous or heterozygous for the ancestral allele (<I>CC</I> and <I>CT</I>; <I>P</I>=0.031). Overall response rate gain was achieved up to 10% in patients with wild-type <I>LIFR rs3729740</I> patients either with wild-type <I>KRAS</I> or skin toxicity (<I>P</I>=0.001) respectively. Specifically in clones treated with cetuximab and bevacizumab regimens, active p-ERK and MMP-9 expressions were significantly reduced in clones expressing wild-type <I>LIFR rs3729740</I> (<I>P</I>=0.044) and in those expressing minor-type <I>ANXA11 rs1049550</I> (<I>P</I>=0.007), respectively.</P><P><B>Conclusion:</B></P><P><I>LIFR rs3729740</I> and possibly <I>ANXA11 rs1049550</I> may be useful as biomarkers for predicting whether mCRC patients are sensitive to relevant target regimens, although further validation in large cohorts is needed.</P>

Determination of N* amplitudes from associated strangeness production in p+p collisions

Mü,nzer, R.,Fabbietti, L.,Epple, E.,Lu, S.,Klose, P.,Hauenstein, F.,Herrmann, N.,Grzonka, D.,Leifels, Y.,Maggiora, M.,Pleiner, D.,Ramstein, B.,Ritman, J.,Roderburg, E.,Salabura, P.,Sarantsev, A.,B North-Holland Pub. Co 2018 Physics letters. Section B Vol.785 No.-

<P><B>Abstract</B></P> <P>We present the first determination of the energy-dependent amplitudes of N<SUP>⁎</SUP> resonances extracted from their decay in KΛ pairs in p+p → <SUP> pK + </SUP> Λ reactions. A combined Partial Wave Analysis of seven data samples with exclusively reconstructed p+p → <SUP> pK + </SUP> Λ events measured by the COSY-TOF, DISTO, FOPI and HADES Collaborations in fixed target experiments at kinetic energies between 2.14 to 3.5 GeV is used to determine the amplitude of the resonant and non-resonant contributions into the associated strangeness final state. The contribution of seven N<SUP>⁎</SUP> resonances with masses between 1650 MeV/c<SUP>2</SUP> and 1900 MeV/c<SUP>2</SUP> for an excess energy between 0 and 600 MeV has been considered. The Σ–p cusp and final state interactions for the p–Λ channel are also included as coherent contributions in the PWA. The N<SUP>⁎</SUP> contribution is found to be dominant with respect to the phase space emission of the pK Λ + final state at all energies demonstrating the important role played by both N<SUP>⁎</SUP> and interference effects in hadron–hadron collisions.</P>

Synthesis and photophysical property of well-defined donor–acceptor diblock copolymer based on regioregular poly(3-hexylthiophene) and fullerene

Lee, Jea Uk,Cirpan, Ali,Emrick, Todd,Russell, Thomas P.,Jo, Won Ho Royal Society of Chemistry 2009 Journal of materials chemistry Vol.19 No.10

<P>A new, well-defined diblock copolymer (P3HT-<I>b</I>-C<SUB>60</SUB>) based on regioregular poly(3-hexylthiophene) (P3HT) and fullerene was synthesized. First, regioregular P3HT was synthesized through Grignard metathesis polymerization, and then methyl methacrylate (MMA) and 2-hydroxyethyl methacrylate (HEMA) were copolymerized by using an end-functionalized P3HT as a macroinitiator for the atom transfer radical polymerization to yield a diblock copolymer (P3HT-<I>b</I>-P(MMA-<I>r</I>-HEMA)). A fullerene derivative functionalized with carboxylic acid, [6,6]-phenyl-C<SUB>61</SUB>-butyric acid (PCBA), was then chemically linked to the HEMA unit in the second block (P(MMA-<I>r</I>-HEMA)) to produce a diblock copolymer with the second block containing fullerenes. Annealing thin films of the copolymer revealed nanometer-scale phase separation, a more suitable morphology for enabling excitons generated in the P3HT domain to more efficiently reach the donor–acceptor interface, relative to simple blends of P3HT and C<SUB>60</SUB>. As a result, photoluminescence of the P3HT-<I>b</I>-C<SUB>60</SUB> diblock copolymer in the films showed a complete quenching of photoluminescence of P3HT, which is indicative of charge transfer between P3HT and fullerene.</P> <P>Graphic Abstract</P><P>A new, well-defined diblock copolymer (P3HT-<I>b</I>-C<SUB>60</SUB>) based on regioregular P3HT and fullerene showed phase separation on a nanometer scale, which allows the excitons generated in the P3HT domain to reach the donor–acceptor interface more efficiently. <IMG SRC='http://pubs.rsc.org/services/images/RSCpubs.ePlatform.Service.FreeContent.ImageService.svc/ImageService/image/GA?id=b813368a'> </P>

Expression phenotype changes of EBV-transformed lymphoblastoid cell lines during long-term subculture and its clinical significance

Lee, J.-E.,Nam, H.-Y.,Shim, S.-M.,Bae, G.-R.,Han, B.-G.,Jeon, J.-P. Blackwell Publishing Ltd 2010 Cell proliferation Vol.43 No.4

<P>Abstract</P><P>Objectives: </P><P>The EBV-transformed lymphoblastoid cell line (LCL) is a useful resource for population-based human genetic and pharmacogenetic studies. The principal objective here was to assess expression phenotype changes during long-term subculture of LCLs, and its clinical significance.</P><P>Materials and methods: </P><P>We searched for genes that were differentially expressed in 17 LCLs at late (p161) passage compared to early passage (p4) using microarray assay, then validated them by real-time RT-PCR analysis. In addition, we estimated correlations between expression phenotypes of 20 LCL strains at early passage and 23 quantitative clinical traits from blood donors of particular LCL strains.</P><P>Results: </P><P>Transcript sequences of 16 genes including nuclear factor-&kgr;B (NF-&kgr;B) pathway-related genes (such as <I>PTPN13</I>, <I>HERC5</I> and miR-146a) and carcinogenesis-related genes (such as <I>XAF1</I>, <I>TCL1A</I>, <I>PTPN13</I>, <I>CD38</I> and miR-146a) were differentially expressed (>2-fold change) in at least 15 of the 17 LCL strains. In particular, <I>TC2N</I>, <I>FCRL5</I>, <I>CD180</I>, <I>CD38</I> and miR-146a were downregulated in all 17 of the evaluated LCL strains. In addition, we identified clinical trait-associated expression phenotypes in LCLs.</P><P>Conclusion: </P><P>Our results showed that LCLs acquired expression phenotype changes involving expression of NF-&kgr;B pathway- and carcinogenesis-related genes during long-term subculture. These differentially expressed genes can be considered to be a gene signature of LCL immortalization or EBV-induced carcinogenesis. Clinical trait-associated expression phenotypes should prove useful in the discovery of new candidate genes for particular traits.</P>

High performance photodiodes based on chemically processed Cu doped SnS₂ nanoflakes

Mohan Kumar, G.,Xiao, Fu,Ilanchezhiyan, P.,Yuldashev, Sh.,Madhan Kumar, A.,Cho, H.D.,Lee, D.J.,Kang, T.W. Elsevier 2018 APPLIED SURFACE SCIENCE - Vol.455 No.-

<P><B>Abstract</B></P> <P>In this work, Cu doped SnS<SUB>2</SUB> nanoflakes were synthesized through a simple hydrothermal method. The influence of Cu doping on the structural, optical and electrical properties of SnS<SUB>2</SUB> were investigated in detail. Optical properties explores the Cu doping in SnS<SUB>2</SUB> crystal lattice to result with a red-shift in absorption spectrum, which benefits visible-light absorption. Photodiodes were further fabricated by spin coating Cu doped SnS<SUB>2</SUB> nanoflakes on p-type silicon (Si). Electrical and photoelectrical parameters of Cu doped SnS<SUB>2</SUB> nanoflakes were determined by studying their impedance and current–voltage (I–V) characteristics, respectively. The diodes were found to exhibit excellent rectifying behavior and good sensitivity on par to pristine photodiodes. Impedance results identified the resistance of device to reduce considerably on Cu doping. The enhanced photoelectrical properties of the heterojunctions has been ascribed to Cu ions, which act as effective dopant and contribute to the varied carrier concentration in SnS<SUB>2</SUB>. Finally the obtained results suggest the potential of Cu-doped SnS<SUB>2</SUB> for application in photodetection and sensors applications.</P> <P><B>Highlights</B></P> <P> <UL> <LI> Cu doped SnS<SUB>2</SUB> nanoflakes were synthesized in hexagonal phase. </LI> <LI> Nature of charge carriers/carrier density was determined using Mott-Schottky plots. </LI> <LI> Photodiode based on Cu doped SnS<SUB>2</SUB> nanoflakes were fabricated on p-Si substrate. </LI> <LI> Photodiode revealed improved photocurrent and responsitivity values under illumination. </LI> </UL> </P> <P><B>Graphical abstract</B></P> <P>[DISPLAY OMISSION]</P>