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CNKI期刊论文0611(8)
知网期刊论文(2234)
在“
Elsevier电子期刊
”中,
命中:
2,276
条,耗时:0.0179977 秒
在所有数据库中总计命中:
8,051
条
1.
Splicing
factor gene
mutation
s in the myelodysplastic syndromes: impact on disease phenotype and therapeutic applications
作者:
Andrea Pellagatti
;
andrea.pellagatti@ndcls.ox.ac.uk
;
Jacqueline Boultwood
;
jacqueline.boultwood@ndcls.ox.ac.uk
关键词:
Myelodysplastic syndromes
;
Splicing
factor gene
;
Mutation
s
;
RNA
splicing
刊名:Advances in Biological Regulation
出版年:2017
2.
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense
mutation
s, deletion and genomic amplification affecting DPD activity and mRNA
splicing
作者:
André
;
B.P. van Kuilenburg
a
;
a.b.vankuilenburg@amc.uva.nl
;
Judith Meijer
a
;
Dirk Maurer
b
;
Doreen Dobritzsch
b
;
Rutger Meinsma
a
;
Maartje Los
c
;
Lia C. Knegt
a
;
Lida Zoetekouw
a
;
Rob L.H. Jansen
d
;
Vincent Dezentjé
;
e
;
Lieke H. van Huis-Tanja
f
;
Roel J.W. van Kampen
g
;
Jens Michael Hertz
h
;
Raoul C.M. Hennekam
a
关键词:
Dihydropyrimidine dehydrogenase
;
DPYD
;
5-Fluorouracil
;
Capecitabine
;
Pharmacogenetics
;
Toxicity
刊名:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
出版年:2017
3.
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
4.
Targeting GH-1
splicing
as a novel pharmacological strategy for growth hormone deficiency type II
作者:
Maria Consolata Miletta
;
maria.miletta@dkf.unibe.ch
;
Christa E. Flü
;
ck
;
Primus-E. Mullis
关键词:
Growth hormone
;
GH-1 gene
;
Short stature
;
Growth hormone deficiency type II
;
Splicing
modulation
刊名:Biochemical Pharmacology
出版年:2017
5.
Mutation
analysis of TRPS1 gene including core promoter, 5′UTR, and 3′UTR regulatory sequences with insight into their organization
作者:
Roman Solc
a
;
roman.solc@natur.cuni.cz
;
Michaela Klugerova
a
;
Mickey.007@seznam.cz
;
Josef Vcelak
b
;
jvcelak@endo.cz
;
Alice Baxova
c
;
baxova@vfn.cz
;
Miloslav Kuklik
b
;
d
;
honza.kuklik@volny.cz
;
Jan Vseticka
e
;
jan.vseticka55@gmail.com
;
Rastislav Beharka
f
;
rbeharka@fnbrno.cz
;
Katerina Hirschfeldova
c
;
khirs@lf1.cuni.cz
关键词:
Alternative
splicing
;
Chromosomal rearrangement
;
Mutation
;
NGS
;
Promoter
刊名:Clinica Chimica Acta
出版年:2017
6.
Comparative ex vivo, in vitro and in silico analyses of a CFTR
splicing
mutation
: Importance of functional studies to establish disease liability of
mutation
s
作者:
Anabela S. Ramalho
a
;
1
;
Luka A. Clarke
a
;
Marisa Sousa
a
;
Veró
;
nica Felicio
a
;
Celeste Barreto
b
;
Carlos Lopes
b
;
Margarida D. Amaral
a
;
mdamaral@fc.ul.pt" class="auth_mail" title="E-mail the corresponding author
关键词:
Cystic fibrosis
;
CFTR
;
Splicing
mutation
;
Alternative
splicing
;
In silico predictions
刊名:Journal of Cystic Fibrosis
出版年:2016
7.
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy
作者:
Toru Kubo
;
MD
;
FJCC
a
;
jm-kubotoru@kochi-u.ac.jp
;
Yuri Ochi
;
MD
a
;
Yuichi Baba
;
MD
a
;
Takayoshi Hirota
;
MD
a
;
Katsutoshi Tanioka
;
MD
a
;
Naohito Yamasaki
;
MD
a
;
Makoto Yoshimitsu
;
MD
b
;
Koji Higuchi
;
MD
b
;
Toshihiro Takenaka
;
MD
;
FJCC
b
;
Kimiko Nakajima
;
MD
c
;
Tadayasu Togawa
;
PhD
d
;
Takahiro Tsukimura
;
PhD
d
;
Shigetoshi Sano
;
MD
c
;
Chuwa Tei
;
MD
;
FJCC
b
;
Hitoshi Sakuraba
;
MD
e
;
Hiroaki Kitaoka
;
MD
;
FJCC
a
关键词:
Fabry disease
;
Hypertrophic cardiomyopathy
;
Prevalence
刊名:Journal of Cardiology
出版年:2017
8.
The RNA Editing Factor WSP1 Is Essential for Chloroplast Development in Rice
作者:
Zhiguo Zhang
1
;
2
;
Xuean Cui
1
;
2
;
Yanwei Wang
1
;
Jinxia Wu
1
;
Xiaofeng Gu
1
;
guxiaofeng@caas.cn
;
Tiegang Lu
1
;
lutiegang@caas.cn
关键词:
rice
;
RNA editing
;
PEP complex and ribosome biosynthesis
;
chloroplast development
刊名:Molecular Plant
出版年:2017
9.
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic
splicing
mutation
in the MCEE gene
作者:
Paula J. Waters
a
;
1
;
Paula.J.Waters@USherbrooke.ca
;
Fanny Thuriot
a
;
1
;
Fanny.Thuriot@USherbrooke.ca
;
Joe T.R. Clarke
a
;
1
;
joeclarke@sympatico.ca
;
Serge Gravel
a
;
1
;
Serge.Gravel@USherbrooke.ca
;
David Watkins
b
;
2
;
david.watkins@mcgill.ca
;
David S. Rosenblatt
b
;
2
;
david.rosenblatt@mcgill.ca
;
Sé
;
bastien Lé
;
vesque
a
;
1
;
Sebastien.A.Levesque@USherbrooke.ca
关键词:
Methylmalonyl-coA epimerase
;
Methylmalonyl-coA racemase
;
Methylmalonic aciduria
;
Propionic aciduria
;
Complementation analysis
;
Intronic
mutation
;
Splicing
mutation
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
10.
Becker muscular dystrophy due to an intronic
splicing
mutation
inducing a dual dystrophin transcript
作者:
Alice Todeschini
a
;
Francesca Gualandi
b
;
Cecilia Trabanelli
b
;
Annarita Armaroli
b
;
Anna Ravani
b
;
Marina Fanin
c
;
Silvia Rota
a
;
Luca Bello
c
;
Alessandra Ferlini
b
;
d
;
Elena Pegoraro
c
;
Alessandro Padovani
a
;
Massimiliano Filosto
a
;
massimiliano.filosto@unibs.it" class="auth_mail" title="E-mail the corresponding author
关键词:
Dystrophinopathy
;
Dystrophin
;
Duchenne muscular dystrophy
;
Becker muscular dystrophy
;
Splicing
mutation
;
Dystrophin amount
刊名:Neuromuscular Disorders
出版年:2016
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