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Elsevier电子期刊(24)
在“
Elsevier电子期刊
”中,
命中:
24
条,耗时:小于0.01 秒
在所有数据库中总计命中:
24
条
1.
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature
作者:
Anju Shukla
a
;
Priyanka Upadhyai
a
;
Jhanvi Shah
a
;
K. Neethukrishna
a
;
Stephanie Bielas
b
;
K.M. Girisha
a
;
girish.katta@manipal.edu
关键词:
Autosomal recessive spinocerebellar ataxia 20
;
Hereditary ataxia
;
SNX1
4
;
Autophagy
;
Cerebellar atrophy
刊名:European Journal of Medical Genetics
出版年:2017
2.
Low density lipoprotein receptor-related protein 1 mediated endocytosis of β1-integrin influences cell adhesion and cell migration
作者:
Verena K. Rabiej
a
;
Thorsten Pflanzner
a
;
Timo Wagner
a
;
Kristina Goetze
b
;
Steffen E. Storck
a
;
Johannes A. Eble
c
;
Sascha Weggen
d
;
Wolfgang Mueller-Klieser
b
;
Claus U. Pietrzik
a
;
pietrzik@uni-mainz.de" class="auth_mail" title="E-mail the corresponding author
关键词:
LRP1
;
low density lipoprotein receptor related-protein 1
;
Snx1
7
;
Sorting nexin 17
;
PSD95
;
postsynaptic density protein 95
;
Dab-2
;
disabled homolog 2
;
ECM
;
extracellular matrix
;
RMS
;
rostral migratory stream
;
BrdU
;
5-bromo-2-deoxyuridine
;
CPZ
;
chlorpromazine
;
FA
;
focal adhesion
;
FAK
;
focal adhesion kinase
;
pFAK Y397
;
focal adhesion kinase phosphorylated at tyrosine 397
;
MMP
;
matrix metalloproteases
;
SVZ
;
subventricular zone
;
Pyk2
;
proline-rich tyrosine kinase 2
;
APP
;
amyloid precursor protein
;
Ra
刊名:Experimental Cell Research
出版年:2016
3.
Homozygous stop mutation in the
SNX1
0 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia
作者:
André
;
Mé
;
garbané
;
a
;
megarbane@usj.edu.lb
;
Alessandra Pangrazio
b
;
c
;
alessandra.pangrazio@itb.cnr.it
;
Anna Villa
b
;
c
;
anna.villa@itb.cnr.it
;
Eliane Chouery
a
;
eliane.chouery@usj.edu.lb
;
Joseph Maarawi
d
;
joseph.maarrawi@usj.edu.lb
;
Sandra Sabbagh
e
;
sandrasabbagh@yahoo.com
;
Gé
;
rard Lefranc
f
;
glefranc@univ-montp2.fr
;
Cristina Sobacchi
b
;
c
;
Cristina.Sobacchi@humanitasresearch.it
关键词:
Autosomal recessive
;
Osteopetrosis
;
SNX1
0
;
Corpus callosum
刊名:European Journal of Medical Genetics
出版年:2013
4.
Retromer: Structure, function, and roles in mammalian disease
作者:
Christopher Trousdale
;
Kyoungtae Kim
;
kkim@missouristate.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Retromer
;
Retrograde
;
Yeast
;
Trafficking
;
Cargo
刊名:European Journal of Cell Biology
出版年:2015
5.
Identification of Alzheimer disease-associated variants in genes that regulate retromer function
作者:
Badri N. Vardarajan
;
Sophia Y. Bruesegem
;
Michael E. Harbour
;
Peter St. George-Hyslop
;
Matthew N.J. Seaman
;
Lindsay A. Farrer
关键词:
Alzheimer disease
;
Retromer
;
Genetic association
;
Snx1
;
Snx3
;
Rab7A
;
KIAA1033
刊名:Neurobiology of Aging
出版年:2012
6.
CLASP Interacts with Sorting Nexin 1 to Link Microtubules and Auxin Transport via PIN2 Recycling in Arabidopsis thaliana
作者:
Chris Ambrose
1
;
Yuan Ruan
1
;
John Gardiner
2
;
Laura M. Tamblyn
1
;
Amanda Catching
1
;
Viktor Kirik
3
;
Jan Marc
2
;
Robyn Overall
2
;
Geoffrey O. Wasteneys
1
;
geoffrey.wasteneys@ubc.ca
刊名:Developmental Cell
出版年:2013
7.
Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature
作者:
Zornitza Stark
a
;
zornitza.stark@ghsv.org.au
;
Alessandra Pangrazio
b
;
c
;
George McGillivray
a
;
A. Michelle Fink
d
;
e
关键词:
Osteopetrosis
;
Recessive
;
Brain anomaly
刊名:European Journal of Medical Genetics
出版年:2013
8.
SNX1
and SNX2 mediate retrograde transport of Shiga toxin
作者:
Audrun Utskarpen
;
Hege H. Slagsvold
;
Anne Berit Dyve
;
Sigrid S. Skå
;
nl
;
Kirsten S
;
vig
关键词:
Shiga toxin
;
SNX1
;
SNX2
;
Golgi
;
Endosome
;
Intracellular transport
刊名:Biochemical and Biophysical Research Communications
出版年:2007
9.
Adaptor protein sorting nexin 17 interacts with the scavenger receptor FEEL-1/stabilin-1 and modulates its expression on the cell surface
作者:
Hideki Adachi
;
Masafumi Tsujimoto
关键词:
FEEL-1/stabilin-1
;
SNX1
7
;
Endothelial cell
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Cell Research
出版年:2010
10.
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
作者:
Kerstin Becker
;
Nataliya Di Donato
;
Muriel Holder-Espinasse
;
Joris Andrieux
;
Jean-Marie Cuisset
;
Louis Vall¨¦e
;
Ghislaine Plessis
;
Nolwenn Jean
;
Bruno Delobel
;
Ann-Charlotte Thuresson
;
G?ran Anner¨¦n
;
Kirstine Ravn
;
Zeynep T¨¹mer
;
Sigrid Tinschert
;
Evelin Schrock
;
Aia Elise J?nch
;
Karl Hackmann
关键词:
6q14 microdeletion syndrome
;
Intellectual disability
;
Mental retardation
;
Array CGH
刊名:European Journal of Medical Genetics
出版年:2012
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