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        Pathogenic Germline Variants in 10,389 Adult Cancers

        Huang, Kuan-lin,Mashl, R. Jay,Wu, Yige,Ritter, Deborah I.,Wang, Jiayin,Oh, Clara,Paczkowska, Marta,Reynolds, Sheila,Wyczalkowski, Matthew A.,Oak, Ninad,Scott, Adam D.,Krassowski, Michal,Cherniack, And Elsevier 2018 Cell Vol.173 No.2

        <P><B>Summary</B></P> <P>We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of <I>SDHA</I> in melanoma and <I>PALB2</I> in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including <I>ATM</I>, <I>BRCA1</I>, and <I>NF1</I>, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in <I>MET</I>, <I>RET</I>, and <I>PTPN11</I> associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer.</P> <P><B>Highlights</B></P> <P> <UL> <LI> 871 predisposition variants/CNVs discovered in 8% of 10,389 cases of 33 cancers </LI> <LI> Pan-cancer approach identified shared variants and genes across cancers </LI> <LI> 33 variants affecting activating domains of oncogenes showed high expression </LI> <LI> 47 VUSs prioritized using cancer enrichment, LOH, expression and other evidence </LI> </UL> </P> <P><B>Graphical Abstract</B></P> <P>[DISPLAY OMISSION]</P>

      • KCI등재

        Investigation of Electrochemical Performance on SnSe2 and SnSe Nanocrystals as Anodes for Lithium Ions Batteries

        Yayi Cheng,Jianfeng Huang,Liyun Cao,Yongfeng Wang,Ying Ma,Shaohua Xi,Bingyao Shi,Hui Xie,Jiayin Li 성균관대학교(자연과학캠퍼스) 성균나노과학기술원 2019 NANO Vol.15 No.01

        SnSe2 and SnSe nanocrystals were prepared using a simple solvothermal method by changing the molar ratio of SnCl2 · 2H2O and Se powder. When SnSe2 and SnSe are acted as lithium ion battery anodes, the SnSe hybrid structure shows more excellent electrochemical performance than that of SnSe2 interconnected nanosheet. It delivers a reversible capacity of 1023 mA h g -1 at a current density of 200 mA g -1, and maintaining a capacity of 498 mA h g -1 till 120 cycles. According to many present works, SnSe2 with interconnected thin nanosheet should possess more superior property than hybrid structured SnSe due to short charge transfer paths. However, in our research, the result is the opposite. Therefore, we consider that the superior electrochemical performance of SnSe is attributed to its highly reversible conversion reaction mechanism than SnSe2.

      • KCI등재

        Hydrothermal Synthesis and Electrochemical Property of Self-Assembly K10 [H2W12O42] · 10H2O Nanorod

        Xingang Kong,Wen Li,Liyun Cao,Jianfeng Huang,Jianpeng Wu,Jie Fei,Jiayin Li 성균관대학교(자연과학캠퍼스) 성균나노과학기술원 2016 NANO Vol.11 No.6

        Using KOH and WO3 as raw materials, K10[H2W12O42] · 10H2O nanorod was successfully synthesized via controlling the pH value and the K/W mole ratio of hydrothermal system. The structure and morphology of the samples were characterized by XRD, SEM, TEM, HRTEM and selected area electron diffraction (SAED). The size of K10[H2W12O42] · 10H2O nanorod was about 300 nm in width and 3–10 µm in length. The nanorod consisted of self-assembly nanowires with about 10 nm in width. Moreover, the electrochemical performance of K10[H2W12O42] · 10H2O as anode material was investigated, indicating that the as-prepared sample electrode possessed a certain ability of lithium ion insertion/extraction, and exhibited a high initial discharge capacity of 310 mAh g-1.

      • KCI등재

        A highly efficient and selective fluorescent probe for Pd (II) based on benzotriazole-coumarin derivative and its catalytic application in Sonogashira reaction

        Shaoheng Li,Ziji Bai,Feiyang Rong,Jiayin Huang,Lipan Zhou,Guodong Feng,Zhiguang Song 한국공업화학회 2023 Journal of Industrial and Engineering Chemistry Vol.124 No.-

        Palladium-catalyzed coupling reactions have become effective tools for forming new carbon–carbonbonds. In this work, a novel fluorescence active benzotriazole-coumarin derivative, (E)-N’-((1H-benzo[d][1,2,3]triazol-6-yl)methylene)-7-(diethylamino)-2-ox o-2H-chromene-3-carbohydrazide (BTANC),was synthesized as ligand in Pd(II) cation coordination. It is shown that BTANC has a strong fluorescentemission at 483 nm and Pd(II) can effectively quench the fluorescence of BTANC and BTANC shows excellentsensitivity and selectivity towards Pd (II) ions. Otherwise, the BTANC-Pd(II) complex was also testedin the Sonogashira coupling reaction of phenylacetylene and aryl halides. The desired product wasobtained with high yield (up to 99%) under the optimized reaction conditions. More to that, Low fluorescenceemission was observed during the Pd-catalyzed reaction process and the fluorescent emission ofBTANC was recovered at the end of the Pd-catalyzed reaction because the oxidative addition of the arylhalide towards Pd (0) was shut down at the end of the Pd-catalyzed reaction. This fluorescence propertiesof BTANC indicates the feasibility of using fluorescence signal as a potential tool to monitor the completionof the Sonogashira coupling reaction.

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