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内部出版物
CNKI学位论文(68)
知网期刊论文(21)
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:
89
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 Palhais
1
;
Maja Dembic
1
;
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
silencer
s
;
ESSs
;
exonic
splicing
silencer
s
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
作者:
Liliana Matos
a
;
b
;
liliana.matos@insa.min-saude.pt" class="auth_mail" title="E-mail the corresponding author
;
Vâ
;
nia Gonç
;
alves
c
;
vania.goncalves@insa.min-saude.pt" class="auth_mail" title="E-mail the corresponding author
;
Eugé
;
nia Pinto
d
;
eugenia.pinto@chp.min-saude.pt" class="auth_mail" title="E-mail the corresponding author
;
Francisco Laranjeira
d
;
francisco.laranjeira@chp.min-saude.pt" class="auth_mail" title="E-mail the corresponding author
;
Maria Joã
;
o Prata
b
;
e
;
mprata@ipatimup.pt" class="auth_mail" title="E-mail the corresponding author
;
Peter Jordan
c
;
peter.jordan@insa.min-saude.pt" class="auth_mail" title="E-mail the corresponding author
;
Lourdes R. Desviat
f
;
g
;
h
;
lruiz@cbm.csic.es" class="auth_mail" title="E-mail the corresponding author
;
Belé
;
n Pé
;
rez
f
;
g
;
h
;
1
;
bperez@cbm.csic.es" class="auth_mail" title="E-mail the corresponding author
;
Sandra Alves
a
;
1
;
sandra.alves@insa.min-saude.pt" class="auth_mail" title="E-mail the corresponding author
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
silencer
s
;
Intronic
splicing
enhancers
;
Intronic
splicing
silencer
s
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. Levengood
1
;
Carrie Rollins
1
;
Clay H.J. Mishler
1
;
Charles A. Johnson
2
;
Grace Miner
1
;
Prashant Rajan
1
;
Brent M. Znosko
2
;
Blanton S. Tolbert
1
;
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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