检索结果-南通市图书馆

Two novel mutations in theGAN gene causing giant axonal neuropathy

World Journal of Pediatrics 2018年第3期14卷 298-304页

作者： Monica Irad Normendez-Martínez Lucero Monterde-Cruz Roberto Martínez Magdalena Marquez-Harper Nayelli Esquitin-Garduno Margarita Valdes-Flores Leonora Casas-Avila Valeria Ponce de Leon-Suarez viktor javier romero-díaz Alberto Hidalgo-Bravo Medical Specialties Hospital Boulevard Milenio 130San Carlos la Roncha37660 LeonGuanajuatoMexico department of Gene tics National Institute of R ehabilitationAvenue Mexico-Xochimilco 28914389 Me xico CityMexico department ofHis tology School ofMedicineAutonomous University oft heS tate ofN uevo LeonMonterreyMexico

Background Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of the second decade of life. Affected individuals do not survive beyond the third decade of life. Molecular analysis has identified mutations in the gene GAN in patients with this disorder. This gene produces a protein called gigaxonin which is presumably involved in protein degradation via the ubiquitin-proteasome system. However, the underlying molecular mechanism is not clearly understood yet. Methods Here we present the fi rst patient from Mexico with clinical data suggesting GAN. Sequencing of the GAN gene was carried out. Changes in the nucleotide sequence were investigated for their possible impact on protein function and structure using the publicly available prediction tools PolyPhen-2 and PANTHER. Results The patient is a compound heterozygous carrying two novel mutations in the GAN gene. The sequence analy-sis revealed two missense mutations in the Kelch repeats domain. In one allele, a C>T transition was found in exon 9 at the nucleotide position 55393 (g.55393C>T). In the other allele, a transversion G>T in exon 11 at the nucleotide position 67471 (g.67471G>T) was observed. Both of the bioinformatic tools predicted that these amino acid substitutions would have a negative impact on gigaxonin's function. Conclusion This work provides useful information for health professionals and expands the spectrum of disease-causing mutations in the GAN gene and it is the first documented case in Mexican population.

关键词： GAN Genetics Giant axonal neuropathy Incapacity Neurodegenerative

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Passively Q-switched femtosecond-laser-written thulium waveguide laser based on evanescent field interaction with carbon nanotubes

引用

Photonics Research 2018年第10期6卷 971-980页

作者： ESROM KIFLE PAVEL LOIKO javier ROdRíGUEZ VáZQUEZ dE ALdANA CAROLINA romero AIRáN RódENAS SUN YUNG CHOI JI EUN BAE FABIAN ROTERMUNd viktor ZAKHAROV ANdREY VENIAMINOV MAGdALENA AGUILó FRANCESC díaz UWE GRIEBNER VALENTIN PETROV XAVIER MATEOS Universitat Rovira i Virgili Departament Quimica Fisica i Inorgànica Fisica i Cristal·lografia de Materials i Nanomaterials (FiCMA-FiCNA)-EMaS Campus Sescelades E-43007 Tarragona Spain ITMO University 49 Kronverkskiy pr. 197101 St. Petersburg Russia Aplicaciones del Láser y Fotónica University of Salamanca 37008 Salamanca Spain Istituto di Fotonica e Nanotecnologie Consiglio Nazionale delle Ricerche (IFN-CNR) Piazza Leonardo da Vinci 32 20133 Milano Italy department of Physics KAIST 291 Daehak-ro Yuseong-gu 34141 Daejeon South Korea Max Born Institute for Nonlinear Optics and Short Pulse Spectroscopy Max-Bom-Str. 2a D-12489 Berlin Germany

Surface channel waveguides(WGs) were fabricated in a monoclinic Tm^(3+):KLu(WO_4)_2 crystal by femtosecond direct laser writing(fs-dLW). The WGs consisted of a half-ring cladding with diameters of 50 and 60 μm located just beneath the crystal surface. They were characterized by confocal laser microscopy and μ-Raman spectroscopy,indicating a reduced crystallinity and stress-induced birefringence of the WG cladding. In continuous-wave(CW)mode, under Ti:sapphire laser pumping at 802 nm, the maximum output power reached 171.1 mW at 1847.4 nm,corresponding to a slope efficiency η of 37.8% for the 60 μm diameter WG. The WG propagation loss was0.7 0.3 d B∕cm. The top surface of the WGs was spin-coated by a polymethyl methacrylate film containing randomly oriented(spaghetti-like) arc-discharge single-walled carbon nanotubes serving as a saturable absorber based on evanescent field coupling. Stable passively Q-switched(PQS) operation was achieved. The PQS60 μm diameter WG laser generated a record output power of 150 m W at 1846.8 nm with η = 34.6%. The conversion efficiency with respect to the CW mode was 87.6%. The best pulse characteristics(energy/duration)were 105.6 nJ/98 ns at a repetition rate of 1.42 MHz.

关键词：激光技术波导技术发展现状通讯技术

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Fungal diversity notes 1611-1716: taxonomic and phylogenetic contributions on fungal genera and species emphasis in south China

引用

Fungal diversity 2023年第5期122卷 161-403页

作者： Indunil C.Senanayake Walter Rossi Marco Leonardi Alex Weir Mark McHugh Kunhiraman C.Rajeshkumar Rajnish K.Verma Samantha C.Karunarathna Saowaluck Tibpromma Nikhil Ashtekar Sreejith K.Ashtamoorthy Sanjay Raveendran Gurmeet Kour Aishwarya Singh Saúl de la Peña-Lastra Antonio Mateos Miroslav Kolařík Vladimír Antonín HanaŠevčíková Fernando Esteve-Raventós Ellen Larsson Fermín Pancorbo Gabriel Moreno Alberto Altés Yolanda Turégano Tian-Ye du Li Lu Qi-Rui Li Ji-Chuan Kang Sugantha Gunaseelan Kezhocuyi Kezo Malarvizhi Kaliyaperumal Jizhen Fu Milan C.Samarakoon Yusufjon Gafforov Shakhnoza Teshaboeva Pradeep C.Kunjan Arya Chamaparambath Adam Flakus javier Etayo Pamela Rodriguez-Flakus Mikhail P.Zhurbenko Nimali Ide Silva danushka S.Tennakoon KPdeepna Latha Patinjareveettil Manimohan KNAnil Raj Mark S.Calabon Abdollah Ahmadpour Zeinab Heidarian Zahra Alavi Fatemeh Alavi Youbert Ghosta Razmig azizi Mei Luo Min-Ping Zhao Nuwan d.Kularathnage Li Hua Yun-Hui Yang Chun-Fang Liao Hai-Jun Zhao Anis S.Lestari Subashini C.Jayasiri Feng-Ming Yu Lei Lei Jian-Wei Liu Omid Karimi Song-Ming Tang Ya-Ru Sun Yong Wang Ming Zeng Zin H.Htet Benedetto T.Linaldeddu Artur Alves Alan J.L.Phillips Carlo Bregant Lucio Montecchio Andréde Kesel Vincent P.Hustad Andrew N.Miller Anna G.Fedosova viktor Kučera Mubashar Raza Muzammil Hussain Yan-Peng Chen Vinodhini Thiyagaraja deecksha Gomdola Achala R.Rathnayaka Asha J.dissanayake Nakarin Suwannarach Sinang Hongsanan Sajeewa S.N.Maharachchikumbura Lakmali S.dissanayake Nalin N.Wijayawardene Rungtiwa Phookamsak Saisamorn Lumyong E.B.Gareth Jones Neelamanie Yapa dhanushka N.Wanasinghe Ning Xie Mingkwan doilom Ishara S.Manawasinghe Jian-Kui(Jack)Liu Qi Zhao Biao Xu Kevin d.Hyde Jiage Song Innovative Institute for Plant Health/Key Laboratory of Green Prevention and Control On Fruits and Vegetables in South China Ministry of Agriculture and Rural AffairsZhongkai University of Agriculture and EngineeringHaizhu DistrictGuangzhou 510225GuangdongChina Center of Excellence in Fungal Research Mae Fah Luang UniversityChiang Rai 57100Thailand Guangdong Provincial Key Laboratory for Plant Epigenetics College of Life Science and OceanographyShenzhen University3688Nanhai AvenueNanshanShenzhen 518055GuangdongChina Sect.Environmental Sciences Department MeSVAUniversity of L’AquilaVia Vetoio67100 CoppitoAQItaly department of Environmental Biology SUNY-ESF241 Illick Hall1 Forestry DriveSyracuseNY 13210USA National Fungal Culture Collection of India MACS Agharkar Research InstitutePuneMaharashtra 411004India department of Plant Pathology Punjab Agricultural UniversityLudhianaPunjab 141004India Center for Yunnan Plateau Biological Resources Protection and Utilization College of Biological Resource and Food EngineeringQujing Normal UniversityQujing 655011YunnanChina department of Forest Ecology Kerala Forest Research InstitutePeechiThrissurKerala 680653India department of Botany The American CollegeTallakkulamMaduraiTamil Nadu 625002India department of Zoology Savitribai Phule Pune UniversityGaneshkhind RdGaneshkhindPuneMaharashtra 411007India University of Santiago de Compostela 15782 Santiago de CompostelaSpain Sociedad Micológica Extremeña C/Sagitario 1410001 CáceresSpain Institute of Microbiology of the Czech Academy of Sciences Vídeňská108314220 Prague 4Czech Republic department of Botany Moravian MuseumZelnýtrh 665937 BrnoCzech Republic department of Life Sciences(Botany Unit) University of Alcalá28805 Alcaláde HenaresMadridSpain Biological and Enviromental Sciences University of Gothemburgand Gothemburg Global Biodiversity CentreBox 46140530 GöteborgSweden Madrid Mycological Society Real Jardín BotánicoC/Claudio Moyano 128014 MadridSpain State Ke

This article is the 15th contribution in the Fungal diversity Notes series,wherein 115 taxa from three phyla,nine classes,28 orders,48 families,and 64 genera are treated.Fungal taxa described and illustrated in the present study include a new family,five new genera,61 new species,five new combinations,one synonym,one new variety and 31 records on new hosts or new geographical distributions.Ageratinicolaceae fam.***.is introduced and accommodated in Pleosporales.The new genera introduced in this study are Ageratinicola,Kevinia,Pseudomultiseptospora(Parabambusicolaceae),Marasmiellomycena,and Vizzinia(Porotheleaceae).Newly described species are Abrothallus altoandinus,Ageratinicola kunmingensis,Allocryptovalsa aceris,Allophoma yuccae,Apiospora cannae,A.elliptica,A.pallidesporae,Boeremia wisteriae,Calycina papaeana,Clypeo-coccum lichenostigmoides,Coniochaeta riskali-shoyakubovii,Cryphonectria kunmingensis,diaporthe angustiapiculata,d.campylandrae,d.longipapillata,diatrypella guangdongense,dothiorella franceschinii,Endocalyx phoenicis,Epicoc-cum terminosporum,Fulvifomes karaiensis,F.pannaensis,Ganoderma ghatensis,Hysterobrevium baoshanense,Inocybe avellaneorosea,I.lucida,Jahnula oblonga,Kevinia lignicola,Kirschsteiniothelia guangdongensis,Laboulbenia caprina,L.clavulata,L.cobiae,L.cosmodisci,L.nilotica,L.omalii,L.robusta,L.similis,L.stigmatophora,Laccaria rubriporus,Lasiodiplodia morindae,Lyophyllum agnijum,Marasmiellomycena pseudoomphaliiformis,Melomastia beihaiensis,Nemania guangdongensis,Nigrograna thailandica,Nigrospora ficuum,Oxydothis chinensis,O.yunnanensis,Petriella thailandica,Phaeoacremonium chinensis,Phialocephala chinensis,Phytophthora debattistii,Polyplosphaeria nigrospora,Pronectria loweniae,Seriascoma acutispora,Setoseptoria bambusae,Stictis anomianthi,Tarzetta tibetensis,Tarzetta urceolata,Tetraploa obpyriformis,Trichoglossum beninense,and Tricoderma pyrrosiae.We provide an emendation for Urnula ailaoshanensis Agaricus duplocingulatoides var.brevisporus introduced as a new variety based on morphology a

关键词： Agaricomycetes Ascomycota Basidiomycota dothideomycetes Eurotiomycetes Fungal diversity Geoglossomycetes Geographical distribution Host records Incertae sedis Laboulbeniomycetes Lecanoromycetes Leotiomycetes Novel taxa New combination Oomycota Peronosporea Pezizomycetes Phylogeny Sordariomycetes South Chinese fungi Taxonomy

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：