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Wiley电子期刊(1)
NATURE电子期刊(6)
ACS电子期刊(3)
SpringerLink电子期刊(63)
Elsevier电子期刊(135)
在“
Elsevier电子期刊
”中,
命中:
135
条,耗时:小于0.01 秒
在所有数据库中总计命中:
208
条
1.
Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation
作者:
Venkateshwar Mutyam
a
;
Emily Falk Libby
d
;
Ning Peng
a
;
Denis Hadjiliadis
e
;
Michael Bonk
e
;
George M. Solomon
a
;
d
;
Steven M. Rowe
a
;
b
;
c
;
d
;
smrowe@uab.edu
关键词:
PTC mutations
;
W1282X
;
CFTR potentiator
;
Ivacaftor
;
Readthrough
刊名:Journal of Cystic Fibrosis
出版年:2017
2.
Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa
作者:
Christopher Perdoni
a
;
b
;
Mark J. Osborn
a
;
b
;
Jakub Tolar
a
;
b
;
morga336@umn.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
AAV
;
adeno-associated virus
;
AF
;
anchoring fibril
;
BMZ
;
basement membrane zone
;
C7
;
type VII collagen protein
;
CRISPR
;
clustered regularly interspaced short palindromic repeats
;
DEJ
;
dermal-epidermal junction
;
gRNA
;
guide RNA
;
HCT
;
hematopoietic cell transplantation
;
iPSC
;
induced pluripotent stem cell
;
LV
;
lentiviral
;
MSC
;
mesenchymal stem cell
;
PAM
;
protospacer adjacent motif
;
PTCs
;
premature
termination
codons
;
RDEB
;
recessive dystrophic epidermolysis bullosa
;
RV
;
retroviral
;
RVDs
;
repeat var
刊名:Translational Research
出版年:2016
3.
The Meaning of NMD: Translate or Perish
作者:
Saverio Brogna
1
;
s.brogna@bham.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Tina McLeod
1
;
Marija Petric
1
关键词:
ribosome
;
translation
;
mRNA surveillance
;
mRNA quality control
;
EJC
;
3&prime
;
-UTR
刊名:Trends in Genetics
出版年:2016
4.
Novel frameshift variant in gene SALL4 causing Okihiro syndrome
作者:
Leandro Ucela Alves
a
;
Ana Beatriz Alvarez Perez
b
;
Luis Garcia Alonso
b
;
Paulo Alberto Otto
a
;
Regina Cé
;
lia Mingroni-Netto
a
;
renetto@ib.usp.br" class="auth_mail" title="E-mail the corresponding author
关键词:
Okihiro syndrome
;
Duane-radial ray syndrome
;
Acro-reno-ocular syndrome
;
SALL4 gene
;
SALL4 variants
刊名:European Journal of Medical Genetics
出版年:2016
5.
Position of
premature
termination
codons
determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome
作者:
Qiuming Gong
;
Matthew R. Stump
;
Zhengfeng Zhou
;
zhouzh@ohsu.edu" class="auth_mail
关键词:
CHX
;
cycloheximide
;
EJC
;
exon junction complex
;
hERG
;
human ether-a-go-go-related gene
;
HPH
;
hygromycin B phosphotransferase
;
LQT2
;
long QT syndrome type 2
;
MO
;
morpholino oligonucleotide
;
NMD
;
nonsense-mediated mRNA decay
;
nt
;
nucleotide
;
PTC
;
premature
termination
codon
;
RPA
;
RNase protection assay
;
shRNA
;
short hairpin RNA
;
UPF1
;
up-frameshift protein 1
;
WT
;
wild-type
刊名:Gene
出版年:15 April, 2014
6.
Tobramycin is a suppressor of
premature
termination
codons
作者:
Nicola Altamura
;
Rosa Castaldo
;
Alessia Finotti
;
Giulia Breveglieri
;
Francesca Salvatori
;
Cristina Zuccato
;
Roberto Gambari
;
Giulia Chiara Panin
;
Monica Borgatti
关键词:
CF
;
cystic fibrosis
;
CFTR
;
Cystic Fibrosis Transmembrane Conductance Regulator
;
NMD
;
nonsense-mediated mRNA decay
;
PTCs
;
premature
termination
codons
;
RLUs
;
relative light units
;
SD
;
standard deviation
刊名:Journal of Cystic Fibrosis
出版年:December, 2013
7.
Long-term nonsense suppression therapy moderates MPS I-H disease progression
作者:
Gwen Gunn
a
;
gwengunn@uab.edu" class="auth_mail
;
Yanying Dai
a
;
dyy@uab.edu" class="auth_mail
;
Ming Du
a
;
dalian@uab.edu" class="auth_mail
;
Valery Belakhov
b
;
chvalery@tx.technion.ac.il" class="auth_mail
;
Jeyakumar Kandasamy
b
;
jkumar@tx.technion.ac.il" class="auth_mail
;
Trenton R. Schoeb
c
;
trs@uab.edu" class="auth_mail
;
Timor Baasov
b
;
chtimor@techunix.technion.ac.il" class="auth_mail
;
David M. Bedwell
a
;
dbedwell@uab.edu" class="auth_mail
;
Kim M. Keeling
a
;
kkeeling@uab.edu" class="auth_mail
关键词:
Nonsense suppression
;
Readthrough
;
Premature
termination
codons
;
Nonsense mutations
;
Mucopolysaccharidosis I-Hurler
;
Lysosomal storage disease
刊名:Molecular Genetics and Metabolism
出版年:March, 2014
8.
Association of nonsense mutation in GABRG2 with abnormal trafficking of GABA
A
receptors in severe epilepsy
作者:
Atsushi Ishii
a
;
d
;
Takeshi Kanaumi
a
;
d
;
Miwa Sohda
e
;
Yoshio Misumi
b
;
Bo Zhang
c
;
Naoto Kakinuma
f
;
Yoshiko Haga
g
;
Kazuyoshi Watanabe
h
;
Sen Takeda
f
;
Motohiro Okada
i
;
Shinya Ueno
j
;
Sunao Kaneko
k
;
m
;
Sachio Takashima
l
;
Shinichi Hirose
a
;
d
;
hirose@fukuoka-u.ac.jp" class="auth_mail
关键词:
GEFS+
;
genetic epilepsy with febrile seizures plus
;
PTCs
;
premature
termination
codons
;
NMD
;
nonsense-mediated decay
刊名:Epilepsy Research
出版年:March, 2014
9.
A Novel Two-Nucleotide Deletion in the ATP7A Gene Associated With Delayed Infantile Onset of Menkes Disease
作者:
Takahito Wada
;
MD PhD
a
;
takahito.wada0001@me.com" class="auth_mail
;
Marie Reine Haddad
;
PhD
b
;
Ling Yi
;
PhD
b
;
Tomomi Murakami
;
MD
a
;
Akiko Sasaki
;
MD
a
;
Hiroko Shimbo
a
;
Hiroko Kodama
;
MD
;
PhD
c
;
Hitoshi Osaka
;
MD
;
PhD
a
;
Stephen G. Kaler
;
MD
b
关键词:
Menkes disease
;
ATP7A
;
translation reinitiation
;
premature
termination
codon
刊名:Pediatric Neurology
出版年:April, 2014
10.
Synthesis and evaluation of compounds that induce readthrough of
premature
termination
codons
作者:
Michael E.
;
Jung
a
;
;
jung@chem.ucla.edu
;
Jin-Mo
;
Ku
a
;
Liutao
;
Du
b
;
Hailiang
;
Hu
b
;
Richard A.
;
Gatti
b
;
;
c
关键词:
Premature
termination
codons
;
Organic synthesis
;
Readthrough compounds
;
Thiazolidinones
刊名:Bioorganic and Medicinal Chemistry Letters
出版年:2011
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