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Elsevier电子期刊(268)

在“Elsevier电子期刊”中，命中：268条，耗时：小于0.01 秒

在所有数据库中总计命中：268条

1.Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system

作者：Francisco J. Gonzalez-Paredes ; Elena Ramos-Trujillo ; Felix Claverie-Martin ; ^{fclamar@gobiernodecanarias.org" class="auth_mail" title="E-mail the corresponding author}

关键词：ADPKD ; autosomal dominant polycystic kidney disease ; EBV ; Epstein&ndash ; Barr virus ; ESE ; exonic splicing enhancer ; ESS ; exonic splicing silencer ; ISE ; intronic splicing enhancer ; ISS ; intronic splicing silencer ; NMD ; nonsense-mediated mRNA decay ; PC1 ; polycystin-1 ; PC2 ; polycystin-2 ; pET01 ; expression vector Exontrap ; RT-PCR ; reverse transcription-polymerase chain reaction ; SAV ; splice affecting variant ; SNP ; single nucleotide polymorphism ; SNV ; splice neutral variant

刊名：Gene

出版年：2016

2.Parkinson's disease-related gene variants influence pre-mRNA splicing processes

作者：K. Gaweda-Walerych^a ; ^{kasiawal@libero.it" class="auth_mail" title="E-mail the corresponding author} ; F. Mohagheghi^a ; C. Zekanowski^b ; E. Buratti^a

关键词：LRPPRC variants ; Parkinson's disease ; Splicing ; Minigene assay ; MPP+

刊名：Neurobiology of Aging

出版年：2016

3.Analysis of SOST expression using large minigenes reveals the MEF2C binding site in the evolutionarily conserved region (ECR5) enhancer mediates forskolin, but not 1,25-dihydroxyvitamin D₃ or TGFβ₁ responsiveness

作者：Hillary C. St. John ; Sydney J. Hansen ; J. Wesley Pike ; ^{pike@biochem.wisc.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：SOST ; MEF2C ; ECR5 ; Osteocyte ; BAC

刊名：Journal of Steroid Biochemistry and Molecular Biology

出版年：2016

4.Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis

作者：Fiorella S. Belforte^a ; ^c ; Cintia E. Citterio^b ; ^c ; Graciela Testa^d ; Marí ; a Cecilia Olcese^a ; ^c ; Gabriela Sobrero^d ; Mirta B. Miras^d ; Hé ; ctor M. Targovnik^b ; ^c ; Carina M. Rivolta^a ; ^c ; ^{cmrivolta@conicet.gov.ar" class="auth_mail" title="E-mail the corresponding author} ; ^{crivolta@ffyb.uba.ar" class="auth_mail" title="E-mail the corresponding author}

关键词：Congenital hypothyroidism ; DUOX2 gene ; Mutation ; Compound heterozygous mutations ; Cryptic splice site

刊名：Molecular and Cellular Endocrinology

出版年：2016

5.Promotion of atherosclerosis in high cholesterol diet-fed rabbits by immunization with the P277 peptide

作者：Qiyan Xiong^a ; ^b ; ¹ ; Jiao Feng^a ; ^c ; ¹ ; Yu Zhang^a ; Yunxiao Sun^a ; Yong Lu^a ; Taiming Li^a ; Xiaohong Zhang^e ; Rongyue Cao^a ; Liang Jin^a ; ^d ; ^{liangjin1975@cpu.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Jie Wu^a ; ^{minigene1@aliyun.com" class="auth_mail" title="E-mail the corresponding author}

关键词：HSP ; heat shock protein ; HCD ; high cholesterol diet ; IFA ; incomplete Freund&rsquo ; s adjuvant ; HRP ; horseradish peroxidase ; FCS ; fetal calf serum

刊名：Immunology Letters

出版年：2016

6.Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease

作者：Riccardo Sangermano ; MSc¹ ; ² ; Nathalie M. Bax ; MD³ ; Miriam Bauwens ; MSc⁴ ; L. Ingeborgh van den Born ; MD ; PhD⁵ ; Elfride De Baere ; MD ; PhD⁴ ; Alejandro Garanto ; PhD¹ ; ² ; Rob W.J. Collin ; PhD¹ ; ² ; Angelique S.A. Goercharn-Ramlal ; PhD¹ ; Anke H.A. den Engelsman-van Dijk ; BSc¹ ; Klaus Rohrschneider ; MD ; PhD⁶ ; Carel B. Hoyng ; MD ; PhD³ ; Frans P.M. Cremers ; PhD¹ ; ² ; ^&lowast ; ; ^{Frans.Cremers@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author} ; Silvia Albert ; PhD¹ ; ² ; ^&lowast ; ; ^{Silvia.Albert@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：BCVA ; best-corrected visual acuity ; CRD ; cone&ndash ; rod dystrophy ; DAPI ; 4&prime ; 6-diamidino-2-phenylindole ; DMEM/F12 ; Dulbecco's Modified Eagle Medium ; Nutrient Mixture F-12 ; dNTPs ; deoxynucleotide triphosphates ; ERG ; electroretinography ; iPSC ; induced pluripotent stem cell ; PCR ; polymerase chain reaction ; PPC ; photoreceptor progenitor cell ; RT-PCR ; reverse-transcription polymerase chain reaction ; SNP ; single nucleotide polymorphism ; STGD1 ; autosomal recessive Stargardt disease

刊名：Ophthalmology

出版年：2016

7.Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease

作者：Imelda S. Barber^a ; Jennyfer M. Garcí ; a-Cá ; rdenas^a ; Chidchanok Sakdapanichkul^a ; Christopher Deacon^a ; Gabriela Zapata Erazo^a ; Rita Guerreiro^b ; Jose Bras^b ; Dena Hernandez^c ; Andrew Singleton^c ; Tamar Guetta-Baranes^a ; Anne Braae^a ; Naomi Clement^a ; Tulsi Patel^a ; Keeley Brookes^a ; Christopher Medway^a ; Sally Chappell^a ; David M. Mann^d ; ARUK Consortium ; Peter Passmore ; David Craig ; Janet Johnston ; Bernadette McGuinness ; Stephen Todd ; Reinhard Heun ; Heike Kö ; lsch ; Patrick G. Kehoe ; Emma R.L.C. Vardy ; Nigel M. Hooper ; Stuart Pickering-Brown ; Julie Snowden ; Anna Richardson ; Matt Jones ; David Neary ; Jenny Harris ; Christopher Medway ; James Lowe ; A. David Smith ; Gordon Wilcock ; Donald Warden ; Clive Holmes

关键词：Alzheimer's disease ; Early-onset ; Sporadic ; Screening ; APP ; rs367709245

刊名：Neurobiology of Aging

出版年：2016

8.Correction of point mutations at the endogenous locus of the dihydrofolate reductase gene using repair-PolyPurine Reverse Hoogsteen hairpins in mammalian cells

作者：Anna Solé ; ^a ; Carlos J. Ciudad^a ; ^{cciudad@ub.edu" class="auth_mail" title="E-mail the corresponding author} ; Lawrence A. Chasin^b ; Vé ; ronique Noé ; ^a

关键词：Gene correction ; Point mutation ; PPRH ; dhfr ; Mammalian cells

刊名：Biochemical Pharmacology

出版年：2016

9.A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient

作者：Jimena Barraza-Garcí ; a^a ; ^b ; ^c ; Carlos I. Rivera-Pedroza^a ; ^c ; Alberta Belinchó ; n^a ; ^b ; ^c ; Carlota Ferná ; ndez-Camblor^d ; Blanca Valenciano-Fuente^e ; Pablo Lapunzina^a ; ^b ; ^c ; Karen E. Heath^a ; ^b ; ^c ; ^{karen.heath@salud.madrid.org" class="auth_mail" title="E-mail the corresponding author}

关键词：SMARCAL1 ; SIOD ; Skeletal dysplasia ; Nephropathy ; Immunodeficiency

刊名：European Journal of Medical Genetics

出版年：2016

10.Genetic modification of bone-marrow mesenchymal stem cells and hematopoietic cells with human coagulation factor IX-expressing plasmids

作者：Mohammad Reza Sam^a ; ^b ; ^{m.sam@urmia.ac.ir" class="auth_mail" title="E-mail the corresponding author} ; ^{s_mohammadreza@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Azadeh Sadat Azadbakhsh^a ; ^b ; Farrah Farokhi^b ; Kobra Rezazadeh^a ; Sohrab Sam^a ; Alireza Zomorodipour^c ; Aliakbar Haddad-Mashadrizeh^d ; Nowruz Delirezh^e ; Aram Mokarizadeh^f

关键词：Gene therapy ; Hemophilia B ; Human factor IX ; Bone-marrow mesenchymal stem cells ; Hematopoietic lineage ; Cell-based therapy

刊名：Biologicals

出版年：2016

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