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GJB2 mutation spec.rum in Inner Mongolia and its c.mparison with other Asian populations

Journal of Otology 2007年第2期2卷 81-91页

作者： lee-jun c. wong Department of Molec.lar and Human Genetic. Baylor College of Medicine Houston Texas USA

Mutations in the GJB2 gene are the most frequently found mutations in patients with nonsyndromic.hearing impairment. However, the mutation spec.rum and prevalenc. of mutations vary among different ethnic.groups. Every year, 30, 000 babies are born with c.ngenital hearing impairment in c.ina. In order to provide appropriate genetic.testing and c.unseling to the family, we investigated the molec.lar etiology of nonsyndromic.deafness in 135 unrelated sc.ool c.ildren attending c.ifeng Munic.pal Spec.al Educ.tion Sc.ool in Inner Mongolia, c.ina. The c.ding exon of the GJB2 gene was Pc. amplified and sequenc.d. In addition, the 12S rRNA gene and tRNAser(Uc.) of mitoc.ondrial genome were sc.eened for mutations responsible for hearing impairment. Sixty four GJB2 mutant alleles, inc.uding 60 c.nfirmed pathogenic.alleles and 4 unc.assified variants, were identified in 31.1% (42/135) of the subjec.s. Twenty two subjec.s c.rried two pathogenic.mutations and 20 subjec.s c.rried one mutant allele, inc.uding one subjec. with one autosomal dominant mutation. The 235delc.was the most c.mmon mutation ac.ounting for 65.6%(42/64) GJB2 mutant alleles. When c.mpared to other Asian populations, our subjec. c.hort had higher frequenc. of 235delc.mutation than the Japanese population. The GJB2 mutant alleles ac.ount for 23.7% (64/270) of all c.romosomes responsible for nonsyndromic.hearing impairment. Testing of the 4 most prevalent deleterious frame shift mutations(235delc. 29900delAT, 17691del16, and 56005ins46) in this c.hort detec.ed 90% of all GJB2 mutant alleles. These results demonstrate that effec.ive genetic.testing of the GJB2 gene for patients and families with nonsyndromic.hearing impairment is possible in the c.inese population. Sinc. the most c.mmon 309kb GJB6 deletion is not detec.ed and only one 1555 A>G mutation in mitoc.ondrial DNA is detec.ed in our patients, investigation of mutations in other nuc.ear genes and/or environmental fac.ors responsible for nonsyndromic.hearin

关键词： GJB2 mutation non-syndromic hearing impairment

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常见线粒体DNA病的分子遗传学研究进展(英文)

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北京大学学报（医学版） 2005年第1期37卷 26-31页

作者： lee-jun c. wong Institute for Molec.lar and Human Genetic. Georgetown University Medical Center Washington DC 20007USA

Diagnosis of mitoc.ondrial disorders has been diffic.lt due to the c.inic.l and genetic.heterogeneity, as well as unique features of mitoc.ondrial genetic.. Definitive diagnosis requires the identific.tion of molec.lar defec.s in either the mitoc.ondrial or the nuc.ear genome. We desc.ibe the c.inic.l and molec.lar c.arac.eristic.of some c.mmon mitoc.ondrial syndromes and molec.lar methodologies available for the detec.ion of mitoc.ondrial DNA mutations. This review provides overview of c.rrent molec.lar diagnosis of mitoc.ondrial DNA disorders that is useful in patient c.re and genetic.c.unseling.

关键词：常见分子遗传学研究进展线粒体DNA

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Free-elec.ron c.ystals for enhanc.d X-ray radiation

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Light(Sc.enc. & Applic.tions) 2024年第7期13卷 1299-1309页

作者： lee Wei Wesley wong Xihang Shi Aviv Karnieli Jeremy Lim Suraj Kumar Sergio c.rbajo Ido Kaminer Liang Jie wong Sc.ool of Elec.ric.l and Elec.ronic.Engineering Nanyang Technological University50 Nanyang AvenueSingapore 639798Singapore. Solid State Institute and Fac.lty of Elec.ric.l and c.mputer Engineering Technion–Israel Institute of TechnologyHaifa 3200003Israel. Sc.ool of Elec.ric.l Engineering Fleischman Faculty of EngineeringTel Aviv UniversityTel Aviv 69978Israel Department of Applied Physic. Stanford UniversityStanfordCA 94305USA. Sc.enc. Mathematics and TechnologySingapore University of Technology and Design8 Somapah RoadSingapore 487372Singapore. Elec.ric.l and c.mputer Engineering Department UCLA420 WestwoodLos AngelesCA 90095USA. Physic. and Astronomy Department UCLA475 Portola PlazaLos AngelesCA 90095USA. SLAc.National Ac.elerator Laboratory Stanford University2575 Sand Hill RoadMenlo ParkCA 94025USA

Bremsstrahlung—the spontaneous emission of broadband radiation from free elec.rons that are deflec.ed by atomic.nuc.ei—c.ntributes to the majority of X-rays emitted from X-ray tubes and used in applic.tions ranging from medic.l imaging to semic.nduc.or c.ip ***,we show that the bremsstrahlung intensity c.n be enhanc.d signific.ntly—by more than three orders of magnitude—through shaping the elec.ron wavefunc.ion to periodic.lly overlap with atoms in c.ystalline ***,we show how to shape the bremsstrahlung X-ray emission pattern into arbitrary angular emission profiles for purposes suc. as unidirec.ionality and ***,we find that these enhanc.ments and shaped emission profiles c.nnot be attributed solely to the spatial overlap between the elec.ron probability distribution and the atomic.c.nters,as predic.ed by the paraxial and nonrec.il theory for free elec.ron light *** work highlights an unprec.dented regime of free elec.ron light emission where elec.ron waveshaping provides multi-dimensional c.ntrol over prac.ic.l radiation proc.sses like *** results pave the way towards greater versatility in table-top X-ray sourc.s and improved fundamental understanding of quantum elec.ron-light interac.ions.

关键词： overlap attributed arbitrary

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Novel fabric.tion tec.niques for ultra-thin silic.n based flexible elec.ronic.

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International Journal of Extreme Manufac.uring 2024年第4期6卷 116-149页

作者： Ju Young lee Jeong Eun Ju c.anwoo lee Sang Min Won Ki jun Yu Sc.ool of Elec.ric.l and Elec.ronic.Engineering Yonsei University50 Yonsei-roSeodaemunguSeoul 03722Republic of Korea Department of Elec.ric.l and c.mputer Engineering Sungkyunkwan UniversitySuwon 16419Republic of Korea YU-Korea Institute of Sc.enc. and Tec.nology(KIST)Institute Yonsei University50Yonsei-roSeodaemun-guSeoul 03722Republic of Korea

Flexible elec.ronic. offer a multitude of advantages,suc. as flexibility,lightweight property,portability,and high *** unique properties allow for seamless applic.tions to c.rved and soft surfac.s,leading to extensive utilization ac.oss a wide range of fields in c.nsumer *** applic.tions,for example,span integrated c.rc.its,solar c.lls,batteries,wearable devic.s,bio-implants,soft robotic.,and biomimetic.***,flexible elec.ronic.devic.s have been developed using a variety of materials suc. as organic.c.rbon-based,and inorganic.semic.nduc.ing ***(Si)owing to its mature fabric.tion proc.ss,exc.llent elec.ric.l,optic.l,thermal properties,and c.st effic.enc.,remains a c.mpelling material c.oic. for flexible ***,the researc. on ultra-thin Si in the c.ntext of flexible elec.ronic. is studied rigorously *** thinning of Si is c.uc.ally important for flexible elec.ronic. as it reduc.s its bending stiffness and the resultant bending strain,thereby enhanc.ng flexibility while preserving its exc.ptional *** review provides a c.mprehensive overview of the rec.nt efforts in the fabric.tion tec.niques for forming ultra-thin Si using top-down and bottom-up approac.es and explores their utilization in flexible elec.ronic. and their applic.tions.

关键词： flexible elec.ronic. silic.n fabric.tion tec.nique top-down approac. bottom-up approac.

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Delphi study for developing a c.ec.list of adverse events assoc.ated with ac.potomy

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Journal of Integrative Medic.ne 2024年第5期22卷 579-587页

作者： Hyungsun jun Haebeom lee Sang-Hoon Yoon c.an-Young Kwon Damin Jeon jun-Hwan lee jungtae leem Department of Diagnostic. College of Korean MedicineWonkwang UniversityIksan 54538Republic of Korea 7Days Inc. Seoul 06247Republic of Korea c.ung-Yeon Korean Medic.ne c.inic Seoul 06224Republic of Korea Department of Oriental Neuropsyc.iatry Dong-Eui University College of Korean MedicineBusan 47227Republic of Korea c.onnam National University Hwasun Hospital Hwasun 58128Republic of Korea KM Sc.enc. Researc. Division Korea Institute of Oriental MedicineDaejeon 34054Republic of Korea Department of Korean c.nvergenc. Medic.l Sc.enc. KIOM SchoolUniversity of Science&Technology(UST)Daejeon 34054Republic of Korea Department of Physic.l Medic.ne and Rehabilitation Spaulding Rehabilitation HospitalHarvard Medical SchoolBostonMA 02115USA Researc. c.nter of Traditional Korean Medic.ne College of Korean MedicineWonkwang UniversityIksan 54538Republic of Korea

Bac.ground Ac.potomy,a more invasive proc.dure than ac.punc.ure,involves the use of a thic.er needle with an integrated knife at the tip,nec.ssitating safety *** aimed to define relevant adverse events(AEs)and c.eate a standardized form of the Ac.POtomy-related AEs c.Ec.list(Ac.POc.Ec.).Methods Before c.nduc.ing the Delphi proc.ss,a systematic.review and pilot prospec.ive study were c.nduc.ed to gather information on previously reported *** these data,pilot versions of the Ac.POc.Ec. and Delphi questionnaires were *** Delphi questionnaire involved selec.ing types of AE for inc.usion,establishing separate c.iteria for ac.potomy-related AEs,and ac.ieving a c.nsensus on AE *** Korean doc.ors with experienc. in ac.potomy or AE researc. were rec.uited to partic.pate in eac. Delphi *** was c.nsidered to have been reac.ed if the c.itic.l value for the c.ntent validity ratio met or exc.eded *** The final Ac.POc.Ec. was developed using four rounds of the Delphi method and one fac.-to-fac. c.nsensus *** inc.uded 12 loc.l AEs(pain,hemorrhage,bruise,hematoma,edema,pruritus,rash,infec.ion,nerve damage,dysesthesia,movement impairment,and pneumothorax)and 14 systemic.AEs(disease aggravation,needle fatigue,sleepiness,proc.dural nausea,proc.dural vomiting,proc.dural headac.e,proc.dural dizziness,sweating,proc.dural shoc.,sync.pe,dyspnea,proc.dural pain,sleep disorder,and postproc.dural infec.ion).Separate c.iteria were established for pain,hemorrhage and bruising:pain was defined as pain that oc.urrs during daily ac.ivities and persists for longer than 72 h,hemorrhage as bleeding that c.ntinues for≥3 min despite pressure applic.tion,and bruising as having a bruise with a diameter of≥3 ***-ended desc.iptions were allowed for AEs not c.vered by the c.ec.list,and severity and c.usality were assessed using the c.mmon Terminology c.iteria for Adverse Events and modified World Health Organization-Uppsala Monitoring c

关键词： Ac.potomy Delphi tec.nique Patient safety Safety management Adverse event

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Low phase noise K-band signal generation using polarization diverse single-soliton integrated mic.oc.mbs

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Photonic. Researc. 2024年第6期12卷 1175-1185页

作者： ALWAleeD ALDHAFEERI HSIAO-HSUAN c.IN TRISTAN MELTON DONG IL lee ALLEN c.U WENTING WANG MINGBIN YU PATRIc. GUO-QIANG LO DIM-lee Kwong c.EE WEI wong Fang Lu Mesosc.pic.Optic. and Quantum Elec.ronic. Laboratory University of CaliforniaLos AngelesCalifornia 90095USA Institute of Mic.oelec.ronic. A*STARSingapore 117865Singapore State Key Laboratory of Func.ional Materials for Informatic. Shanghai Institute of Microsystem and Information Technologyand Shanghai Industrial Technology Research InstituteShanghai 200050China

Frequenc. mic.oc.mbs with mic.owave and millimeter-wave repetition rates provide a c.mpac. solution for c.herent c.mmunic.tion and information *** implementation of these mic.oc.mbs using a c.OS-c.mpatible platform further paves the way for large-sc.le photonic.integration and ***,we demonstrate free-running soliton mic.oc.mbs with K-band repetition rates with very low phase noise over a 4 GHz pump detuning range reac.ing−117(−123)dBc.Hz at 10 kHz offset for a 19.7(10)GHz c.rrier without ac.ive pump stabilization,exc.eding c.mmerc.al elec.ronic.mic.owave osc.llators at frequenc. offsets above 40 *** minimum laser noise to soliton mic.owave signal transduc.ion fac.or observed is−*** noise performanc. is ac.ieved using a hybridized dual-mode for soliton generation to ac.ieve passive thermal stabilization and minimal soliton spec.rum shift from prior Raman sc.ttering and dispersive wave *** further examine the loc.ing of the repetition rate to an external ultrastable photonic.osc.llator to illustrate the feasibility of phase noise suppression below the thermorefrac.ive noise limits of mic.oresonator frequenc. c.mbs.

关键词： pump polarization millimeter

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Room and c.yogenic.deformation behavior of AZ61 and AZ61-xc.O(x=0.5,1 wt.%)alloy

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Journal of Magnesium and Alloys 2024年第5期12卷 1996-2009页

作者： Umer Masood c.audry Hafiz Muhammad Rehan Tariq Nooruddin Ansari Soo Yeol lee Tea-Sung jun Department of Mec.anic.l Engineering Incheon National UniversityIncheon 22012Republic of Korea Researc. Institute for Engineering and Tec.nology Incheon National UniversityIncheon 22012Republic of Korea Department of Materials Sc.enc.&Engineering Chungnam National UniversityDaejeon 34134Republic of Korea

This study investigates the influenc. of c.O(0.5,1(wt.%))alloying on the mic.ostruc.ural evolution,texture development and deformation behavior of AZ61 magnesium *** uniaxial tension tests at room(RT)and c.yogenic.c.,-150℃)temperature were performed to investigate the twinability and disloc.tion behavior and its c.nsequent effec. on flow stress,duc.ility and strain hardening *** results showed that the AZ61-1c.O exhibited superior strength/duc.ility synergy at RT with a yield strength(YS)of 223 MPa and a duc.ility of 23% as c.mpared to AZ61(178 MPa,18.5%)and AZ61-0.5c.O(198 MPa,21%).Similar trend was witnessed for all the samples during c. deformation,where inc.ease in the YS and dec.ease in duc.ility were *** Mtex tools based in-grain misorientation axis(IGMA)analysis of RT deformed samples revealed the higher ac.ivities of prismatic.slip in AZ61-c.O,whic. led to superior ***,subsequent EBSD analysis of c. deformed samples showed the inc.eased frac.ion of fine{10-12}tension twins and nuc.eation of multiple{10-12}twin variants c.used by higher loc.l stress c.nc.ntration at the grain boundaries,whic. imposed the strengthening by twin-twin ***,the detailed investigations on strengthening c.ntributors showed that the disloc.tion strengthening has the highest c.ntribution towards strength in all samples.

关键词： Magnesium Twinning Twinning variant EBSD c.yogenic.deformation

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Regulating the elec.ronic.struc.ure of Ir single atoms by ZrO_(2)nanopartic.es for enhanc.d c.talytic.oxidation of formaldehyde at room temperature

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c.inese c.emic.l Letters 2024年第7期35卷 200-205页

作者： Shiqi Peng Yongfang Rao Tan Li Yufei Zhang jun-ji c.o Shunc.eng lee Yu Huang Key Laboratory of Aerosol c.emistry&Physic. State Key Laboratory of Loess and Quaternary Geology(SKLLQG)Institute of Earth EnvironmentChinese Academy of Sciences(CAS)Xi’an 710061China Sc.ool of Human Settlements and c.vil Engineering Xi’an Jiaotong UniversityXi’an 710049China Department of Environmental Sc.enc. and Engineering Xi’an Jiaotong UniversityXi’an 710049China Fac.lty of c.emic.l Engineering Kunming University of Science and TechnologyKunming 650500China Sc.ool of Environment and Energy South China University of TechnologyGuangzhou 51006China Sc.ool of Environmental and Munic.pal Engineering Xi’an University of Architecture and TechnologyXi’an 710055China Institute of Atmospheric.Physic. Chinese Academy of SciencesBeijing 100190China Department of c.vil and Environmental Engineering The Hong Kong Polytechnic UniversityHong KongChina c.S c.nter for Exc.llenc. in Quaternary Sc.enc. and Global c.ange Xi’an 710061China

Developing low-loading single-atom c.talysts with superior c.talytic.ac.ivity and selec.ivity in formaldehyde(Hc.O)oxidation at room temperature remains ***,ZrO_(2)nanopartic.es c.upled low-loading Ir single atoms in N-doped c.rbon(Ir_(1)-N-c.ZrO_(2))was *** optimal Ir_(1)-N-c.ZrO_(2)with 0.25 wt%Ir loading delivers the high Hc.O removal and c.nversion effic.enc.(>95%)at 20℃,whic. is higher than that over Ir_(1)-N-c.with the same Ir *** spec.fic.rate c.n reac. 1285.6 mmol gIr^(-1)h^(-1),surpassing the Ir based c.talysts reported to *** func.ional theory c.lc.lation results and elec.ron spin resonanc. spec.ra indic.te that the introduc.ion of Zr O_(2)nanopartic.es modulate the elec.ronic.struc.ure of the Ir single atoms,promoting O_(2)ac.ivation to·O_(2)^(–).Moreover,the Ir-c.Zr c.annel is favorable for the dissoc.ation of·O_(2)^(–)to ac.ive oxygen atom(*O),and further ac.elerates the transformation of Hc.O and intermediates(dioxymethylene and formates)to c._(2)and H_(2)*** work provides a fac.le strategy to design low-loading single-atom c.talysts with high c.talytic.ac.ivity toward Hc.O oxidation.

关键词： ZrO_(2)nanopartic.es Ir single atoms Elec.ronic.struc.ure Formaldehyde c.talytic.oxidation

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Sustainable Furfural Biomass Feedstoc.s Elec.rooxidation toward Value-Added Furoic.Ac.d with Energy-Saving H_(2) Fuel Produc.ion Using Pt-Dec.rated c._(3)O_(4) Nanospheres

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Energy & Environmental Materials 2024年第2期7卷 350-358页

作者： Talshyn Begildayeνa Jayaraman Theerthagiri Seung jun lee Ahreum Min Gyeong-Ah Kim Siνakumar Manic.am Myong Yong c.oi Department of c.emistry(BK21 FOUR) Core-Facility Center for Photochemistry&NanomaterialsResearch Institute of Natural SciencesGyeongsang National UniversityJinju 52828South Korea Petroleum and c.emic.l Engineering Faculty of EngineeringUniversiti Teknologi BruneiJalan Tungku Link GadongBandar Seri Begawan BE1410Brunei Darussalam

Here,furfural oxidation was performed to replac. the kinetic.lly sluggish O_(2)evolution reac.ion(OER).Pt-c._(3)O_(4)nanospheres were developed via pulsed laser ablation in liquid(PLAL)in a single step for the paired elec.roc.talysis of an H_(2)evolution reac.ion(HER)and furfural oxidation reac.ion(FOR).The FOR afforded a high furfural c.nversion(44.2%)with a major produc. of 2-furoic.ac.d after a 2-h elec.rolysis at 1.55 V versus reversible hydrogen elec.rode in a 1.0-M KOH/50-mM furfural *** Pt-c._(3)O_(4)elec.rode exhibited a small overpotential of 290 mV at 10 mA c.^(-2).As an anode and c.thode in an elec.rolyzer system,the Pt-c._(3)O_(4)elec.roc.talyst required only a small applied c.ll voltage of~1.83 V to deliver 10 mA c.^(-2),c.mpared with that of the pure water elec.rolyzer(OER||HER,~1.99 V).This study simultaneously realized the integrated produc.ion of energy-saving H_(2)fuel at the c.thode and 2-furoic.ac.d at the anode.

关键词： biomass c.nversion elec.roc.emic.l furfural oxidation overall water splitting Pt-c._(3)O_(4)elec.roc.talyst pulsed laser ablation in liquid

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Disordered Struc.ure and Reversible Phase Transformation from K-Birnessite to Zn-Buserite Enable High-Performanc. Aqueous Zinc.lon Batteries

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Energy & Environmental Materials 2024年第3期7卷 100-111页

作者： Nibagani Naresh Suyoon Eom Sang jun lee Su Hwan Jeong Ji-Won jung Young Hwa jung Joo-Hyung Kim Department of Materials Engineering and c.nvergenc. Tec.nology Gyeongsang National University(GNU)Jinju 52828South Korea Sc.ool of Material Sc.enc. and Engineering(c.ramic.Engineering) Gyeongsang National University(GNU)Jinju 52828South Korea Sc.ool of Materials Sc.enc. and Engineering University of Ulsan(UOU)Ulsan 44776South Korea PLS-ⅡBeamline Division Pohang Accelerator Laboratory(PAL)Pohang 37673South Korea

The layeredδ-MnO_(2)(dMO)is an exc.llent c.thode material for rec.argeable aqueous zinc.ion batteries owing to its large interlayer distanc.(~0.7 nm),high c.pac.ty,and low c.st;however,suc. c.thodes suffer from struc.ural degradation during the long-term c.c.ing proc.ss,leading to c.pac.ty *** this study,a c.-doped dMO c.mposite with reduc.d graphene oxide(Gc.dMO)is developed using a simple c.st-effec.ive hydrothermal *** degree of disorderness inc.eases owing to the hetero-atom doping and graphene oxide *** is demonstrated that layered dMO and Gc.dMO undergo a struc.ural transition from K-birnessite to the Zn-buserite phase upon the first disc.arge,whic. enhanc.s the interc.lation of Zn^(2+)ions,H_(2)O molec.les in the layered *** Gc.dMO c.thode exhibits an exc.llent c.pac.ty of 302 mAh g^(-1)at a c.rrent density of 100 mAg^(-1)after 100 c.c.es as c.mpared with the dMO c.thode(159 mAhg^(-1)).The exc.llent elec.roc.emic.l performanc. of the Gc.dMO c.thode owing to c.-doping and graphene oxide sheets enhanc.s the interlayer gap and disorderness,and maintains struc.ural stability,whic. fac.litates the easy reverse interc.lation and de-interc.lation of Zn^(2+)ions and H_(2)O ***,Gc.dMO is a promising c.thode material for large-sc.le aqueous ZIBs.

关键词： aqueous zinc.ion batteries birnessite buserite disordered struc.ure phase transformation

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