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Elsevier电子期刊(36)

在“Elsevier电子期刊”中，命中：36条，耗时：小于0.01 秒

在所有数据库中总计命中：51条

1.Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy

作者：Daniela Scalet^a ; Dario Balestra^a ; Sara Rohban^b ; Matteo Bovolenta^a ; Daniela Perrone^c ; Francesco Bernardi^a ; Stefano Campaner^b ; Mirko Pinotti^a ; ^pnm@unife.it

关键词：(up to 6) Seckel syndrome-1 ; Exonic splicing silencer ; modified U1snRNA ; Antisense oligonucleotide ; correction approaches

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2017

2.Differential hnRNP D isoform incorporation may confer plasticity to the ESSV-mediated repressive state across HIV-1 exon 3

作者：Frank Hillebrand^a ; ¹ ; Jan Otto Peter^a ; ¹ ; Anna-Lena Brillen^a ; Marianne Otte^c ; Heiner Schaal^a ; ; Steffen Erkelenz^a ; ^b ; ^{steffen.erkelenz@gmx.de}

关键词：HIV-1 ; Splicing ; hnRNP proteins ; hnRNP D

刊名：Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms

出版年：2017

3.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

4.The prevalent deep intronic c. 639 + 919 G > A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

作者：Bruno Palhais¹ ; Maja Dembic¹ ; Rugivan Sabaratnam ; Kira S. Nielsen ; Thomas Koed Doktor ; Gitte Hoffmann Bruun ; Brage Storstein Andresen ; ^{bragea@bmb.sdu.dk" class="auth_mail" title="E-mail the corresponding author}

关键词：α-Gal A ; α-galactosidase A enzyme ; ESE ; exonic splicing enhancer ; ESS ; exonic splicing silencer ; FGB ; fibrinogen β gene ; GLA ; α-galactosidase A gene ; hnRNP A1 ; A2/B1 ; F ; and H ; heterogeneous ribonucleoprotein A1 ; A2/B1 ; F ; and H ; NMD ; nonsense-mediated decay ; 3&prime ; and 5&prime ; ss ; 3&prime ; and 5&prime ; splice site ; SRE ; splicing regulatory element ; SSO ; splice-switching oligonucleotide

刊名：Molecular Genetics and Metabolism

出版年：2016

5.Towards understanding pre-mRNA splicing mechanisms and the role of SR proteins

作者：Mahbod Sahebi^a ; ^b ; ^{mahbod_sahebi@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Mohamed M. Hanafi^a ; ^b ; ^{mmhanafi@agri.upm.edu.my" class="auth_mail" title="E-mail the corresponding author} ; Andre J. van Wijnen^c ; Parisa Azizi^d ; Rambod Abiri^e ; Sadegh Ashkani^f ; ^g ; Sima Taheri^h

关键词：snRNA ; small nuclear RNA ; snRNPs ; small nuclear ribonucleic proteins ; hnRNA ; heterogeneous nuclear RNA ; PPT ; polypyrimidine tract ; BPS ; branch point sequence ; DYRKs ; dual-specificity tyrosine-phosphorylation-regulated kinases ; CRKRS ; CDC2-related kinase with RS domain-7 (also known as CRK7) ; PTB ; polypyrimidine tract-binding protein ; CTD ; carboxy-terminal domain ; ISEs ; intronic splicing enhancers ; ESEs ; exonic splicing enhancers ; ISSs ; intronic splicing silencers ; ESSs ; exonic splicing silencers

刊名：Gene

出版年：2016

6.Genomic and in silico analyses of CRBN gene and thalidomide embryopathy in humans

作者：Fernanda Sales Luiz Vianna^a ; ^b ; ^c ; ^d ; ¹ ; ^{fslvianna@gmail.com} ; Thayne Woycinck Kowalski^a ; ^c ; ¹ ; Luciana Tovo-Rodrigues^c ; ^e ; Alice Tagliani-Ribeiro^c ; Bibiane Armiliato Godoy^c ; Lucas Rosa Fraga^a ; ^c ; Maria Teresa Vieira Sanseverino^a ; ^b ; ^c ; ^f ; Mara Helena Hutz^c ; Laví ; nia Schuler-Faccini^a ; ^b ; ^c

关键词：ABPST ; Brazilian Association of Thalidomide Victims ; CRBN ; Cereblon ; CRL4 ; cullin RING-like ; CtBP ; C-terminal binding protein ; CUL4A ; cullin-4A ; DDB1 ; DNA damage-binding protein 1 ; EIE ; exon-identity element ; ESE ; exonic splicing enhancer ; ESR ; exonic splicing regulatory ; ESS ; exonic splicing silencer ; GATA1 ; GATA-binding protein 1 ; GATA2 ; GATA-binding protein 2 ; GATA3 ; GATA-binding protein 3 ; HSF ; human splicing finder ; IIE ; intron-identity element ; IKZF1 ; Ikaros family zinc finger 1 ; IKZF3 ; Ik

刊名：Reproductive Toxicology

出版年：2016

7.Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II

关键词：AMO ; antisense morpholino oligonucleotide ; AO ; antisense oligonucleotide ; C ; healthy control ; ESE ; exonic splicing enhancer ; ESS ; exonic splicing silencer ; hnRNP ; heterogeneous nuclear ribonucleoprotein ; ISE ; intronic splicing enhancer ; ISS ; intronic splicing silencer ; LNA ; locked nucleic acid ; LSD ; lysosomal storage disorder ; MPS II ; mucopolysaccharidosis type II ; NC ; negative control ; P ; patient ; siRNA ; small interfering RNA ; SR ; arginine&ndash ; serine ; V ; vector sequence ; WT ; wild-type

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2015

8.Systematical identification of splicing regulatory cis-elements and cognate trans-factors

作者：Yang Wang ; ^{ywang@med.unc.edu" class="auth_mail} ; Zefeng Wang ; ^{zefeng@med.unc.edu" class="auth_mail}

关键词：Splicing regulatory elements ; Splicing factors ; Exonic splicing silencers ; Intronic splicing enhancers ; Intronic splicing silencers

刊名：Methods

出版年：February, 2014

9.The effect of the common c.2299delG mutation in USH2A on RNA splicing

作者：Eva Lenassi^a ; ^b ; ^c ; Zubin Saihan^a ; ^b ; Maria Bitner-Glindzicz^d ; ^e ; Andrew R. Webster^a ; ^b ; ^{andrew.webster@ucl.ac.uk" class="auth_mail}

关键词：USH2A ; Usher syndrome ; retinitis pigmentosa ; RNA ; RT-PCR ; splicing ; exon skipping

刊名：Experimental Eye Research

出版年：May 2014

10.Solution Structure of the HIV-1 Exon Splicing Silencer 3

作者：Jeffrey D. Levengood¹ ; Carrie Rollins¹ ; Clay H.J. Mishler¹ ; Charles A. Johnson² ; Grace Miner¹ ; Prashant Rajan¹ ; Brent M. Znosko² ; Blanton S. Tolbert¹ ; ^{tolberbs@muohio.edu}

关键词：HIV-1 ; human immunodeficiency virus type 1 ; ESS3 ; exon splicing silencer 3 ; 3D ; three-dimensional ; SRE ; splicing regulatory element ; ESE ; exonic splicing enhancer ; ISS ; intronic splicing silencer ; hnRNP ; heterogeneous nuclear ribonucleoprotein ; RRE ; Rev-r

刊名：Journal of Molecular Biology

出版年：2012

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