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内部出版物
Wiley电子期刊(3)
NATURE电子期刊(4)
ACS电子期刊(16)
SpringerLink电子期刊(15)
Elsevier电子期刊(46)
在“
Elsevier电子期刊
”中,
命中:
46
条,耗时:小于0.01 秒
在所有数据库中总计命中:
84
条
1.
RNA FISH for detecting expanded repeats in human diseases
作者:
Martyna O. Urbanek
;
Wlodzimierz J. Krzyzosiak
;
wlodkrzy@ibch.poznan.pl" class="auth_mail" title="E-mail the corresponding author
关键词:
DM
;
myotonic dystrophy
;
HD
;
Huntington&rsquo
;
s disease
;
SCA
;
spinocerebellar ataxia
;
DRPLA
;
dentatorubral-pallidoluysian atrophy
;
HDL2
;
Huntington disease-like 2
;
ALS/FTD
;
amyotrophic lateral sclerosis/frontotemporal dementia
;
FXTAS
;
fragile X-associated tremor/ataxia syndrome
;
TREDs
;
triplet repeat expansion diseases
;
MBNL1
;
muscleblind-like
1
;
DMPK
;
dystrophia myotonica protein kinase
;
FISH
;
fluorescence in situ hybridization
;
IF
;
immunofluorescence
;
LNA
;
locked nucleic acids
;
PNA
;
peptide nuc
刊名:Methods
出版年:20
1
6
2.
Splicing of human chloride channel
1
作者:
Takumi Nakamura
1
;
Natsumi Ohsawa-Yoshida
1
;
Yimeng Zhao
;
Michinori Koebis
;
Kosuke Oana
;
Hiroaki Mitsuhashi
;
Shoichi Ishiura
;
cishiura@mail.ecc.u-tokyo.ac.jp" class="auth_mail" title="E-mail the corresponding author
关键词:
Myotonic dystrophy
;
MBNL1
;
Splicing
;
Human chloride channel
1
gene
刊名:Biochemistry and Biophysics Reports
出版年:20
1
6
3.
Effects of altered expression of LEAFY COTYLEDON
1
and FUSCA3 on microspore-derived embryogenesis of Brassica napus L.
作者:
Nosheen Elahi
;
Robert W. Duncan
;
Claudio Stasolla
;
stasolla@ms.umanitoba.ca" class="auth_mail" title="E-mail the corresponding author
关键词:
Brassica napus
;
BnLEC
1
;
BnFUSCA3
;
Embryo development
;
Microspore-derived embryogenesis
;
Oil content
刊名:Journal of Genetic Engineering and Biotechnology
出版年:20
1
6
4.
Development of pharmacophore models for small molecules targeting RNA: Application to the RNA repeat expansion in myotonic dystrophy type
1
作者:
Alicia J. Angelbello
a
;
&dagger
;
;
À
;
lex L. Gonzá
;
lez
b
;
&dagger
;
;
Suzanne G. Rzuczek
a
;
Matthew D. Disney
a
;
关键词:
RNA
;
Chemical biology
;
Pharmacophore
;
Virtual screening
;
Chemotype
刊名:Bioorganic & Medicinal Chemistry Letters
出版年:20
1
6
5.
Étude des agrégats nucléaires (CUG)n et (CCUG)n dans la dystrophie myotonique de type
1
et de type 2
作者:
Lucile Revillod
a
;
lucile.revillod@inserm.fr" class="auth_mail" title="E-mail the corresponding author
;
Cé
;
line Dogan
b
;
Marie De Antonio
b
;
Valé
;
rie Legendre
b
;
Guillaume Bassez
b
关键词:
Dystrophies myotoniques
;
Biomarqueur
;
Biothé
;
rapies
刊名:Morphologie
出版年:20
1
6
6.
Nuclear speckles are detention centers for transcripts containing expanded CAG repeats
作者:
Martyna O. Urbanek
;
Magdalena Jazurek
1
;
Pawel M. Switonski
1
;
Grzegorz Figura
;
Wlodzimierz J. Krzyzosiak
;
wlodkrzy@ibch.poznan.pl" class="auth_mail" title="E-mail the corresponding author
关键词:
Polyglutamine diseases
;
RNA toxicity
;
CAG foci
;
CUG foci
;
Splicing speckles
刊名:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
出版年:20
1
6
7.
Distal Alternative Last Exons Localize mRNAs to Neural Projections
作者:
J. Matthew Taliaferro
1
;
Marina Vidaki
2
;
Ruan Oliveira
3
;
Sara Olson
4
;
Lijun Zhan
4
;
Tanvi Saxena
3
;
Eric T. Wang
3
;
Brenton R. Graveley
4
;
Frank B. Gertler
1
;
2
;
Maurice S. Swanson
3
;
Christopher B. Burge
1
;
cburge@mit.edu" class="auth_mail" title="E-mail the corresponding author
刊名:Molecular Cell
出版年:20
1
6
8.
Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by
MBNL1
and MBNL2
作者:
C. Carpentier
a
;
b
;
D. Ghanem
a
;
b
;
F.J. Fernandez-Gomez
a
;
b
;
F. Jumeau
a
;
b
;
J.V. Philippe
c
;
F. Freyermuth
d
;
A. Labudeck
a
;
b
;
S. Eddarkaoui
a
;
b
;
C.M. Dhaenens
a
;
b
;
I. Holt
e
;
f
;
I. Behm-Ansmant
c
;
N. Marmier-Gourrier
c
;
C. Branlant
c
;
N. Charlet-Berguerand
d
;
J. Marie
g
;
S. Schraen-Maschke
a
;
b
;
L. Bué
;
e
a
;
b
;
N. Sergeant
a
;
b
;
nicolas.sergeant@inserm.fr" class="auth_mail
;
M.L. Caillet-Boudin
a
;
b
;
marie-laure.caillet@inserm.fr" class="auth_mail
关键词:
DM
;
myotonic dystrophy
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
出版年:April, 20
1
4
9.
Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type
1
(DM
1
)
作者:
Massimo Santoro
a
;
masantoro@dongnocchi.it" class="auth_mail" title="E-mail the corresponding author
;
Luana Fontana
b
;
fontanaluana@libero.it" class="auth_mail" title="E-mail the corresponding author
;
Marcella Masciullo
c
;
m.masciullo@hsantalucia.it" class="auth_mail" title="E-mail the corresponding author
;
Maria Laura Ester Bianchi
d
;
mlebianchi@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Salvatore Rossi
d
;
salvatorerossi309@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Emanuele Leoncini
e
;
emanuele.leoncini@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author
;
Giuseppe Novelli
b
;
novelli@med.uniroma2.it" class="auth_mail" title="E-mail the corresponding author
;
Annalisa Botta
b
;
1
;
botta@med.uniroma2.it" class="auth_mail" title="E-mail the corresponding author
;
Gabriella Silvestri
d
;
1
;
gsilvestri@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author
关键词:
MIRS
;
muscular impairment rating scale
;
CTG
;
cytosine&ndash
;
thymine&ndash
;
guanine
;
DM
1
;
myotonic dystrophy type
1
;
cDM
1
;
congenital myotonic dystrophy type
1
;
DMPK
;
Dystrophia myotonica protein kinase gene
;
SIX5
;
SIX Homeobox 5 gene
;
CUG-BP
1
;
CUG RNA-binding protein
;
MBNL
-
1
;
muscleblind-like (Drosophila)
1
protein
;
MS-HRM
;
methylation sensitive high resolution melting
;
CpG
;
cytosine-guanine
;
CTCF
;
CCCTC-binding factor
刊名:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
出版年:20
1
5
10.
Genome-wide association study identifies African-ancestry specific variants for metabolic syndrome
作者:
Fasil Tekola-Ayele
a
;
ayeleft@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author
;
Ayo P. Doumatey
a
;
Daniel Shriner
a
;
Amy R. Bentley
a
;
Guanjie Chen
a
;
Jie Zhou
a
;
Olufemi Fasanmade
b
;
Thomas Johnson
b
;
Johnnie Oli
c
;
Godfrey Okafor
c
;
Benjami A. Eghan Jr
d
;
Kofi Agyenim-Boateng
d
;
Clement Adebamowo
e
;
Albert Amoah
f
;
Joseph Acheampong
d
;
Adebowale Adeyemo
a
;
Charles N. Rotimi
a
;
rotimic@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author
关键词:
cMetS
;
continuous metabolic syndrome score
;
GWAS
;
genome-wide association study
;
MetS
;
the metabolic syndrome as defined by the National Cholesterol Education Program
;
NCEP
;
the National Cholesterol Education Program
;
T2D
;
type 2 diabetes
刊名:Molecular Genetics and Metabolism
出版年:20
1
5
1
2
3
4
5
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