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Elsevier电子期刊(20)
在“
Elsevier电子期刊
”中,
命中:
20
条,耗时:小于0.01 秒
在所有数据库中总计命中:
20
条
1.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
作者:
Machteld M. Oud
1
;
26
;
machteld.oud@radboudumc.nl
;
Paul Tuijnenburg
2
;
3
;
26
;
Maja Hempel
4
;
26
;
Naomi van Vlies
5
;
Zemin Ren
6
;
Sacha Ferdinandusse
5
;
Machiel H. Jansen
2
;
3
;
René
;
Santer
7
;
Jessika Johannsen
7
;
Chiara Bacchelli
8
;
Marielle Alders
9
;
Rui Li
10
;
11
;
Rosalind Davies
8
;
Lucie Dupuis
12
;
Catherine M. Cale
13
;
Ronald J.A. Wanders
5
;
Steven T. Pals
6
;
Louise Ocaka
8
;
Chela James
8
;
Ingo Mü
;
ller
14
;
Kai Lehmberg
14
;
Tim Strom
15
;
16
;
Hartmut Engels
17
;
Hywel J. Williams
8
;
Phil Beales
8
;
Ronald Roepman
1
;
Patricia Dias
18
;
Han G. Brunner
1
;
Jan-Maarten Cobben
19
;
20
;
Christine Hall
21
;
Taila Hartley
22
;
Polona Le Quesne Stabej
8
;
Roberto Mendoza-Londono
12
;
E. Graham Davies
8
;
13
;
Sé
;
rgio B. de Sousa
8
;
23
;
24
;
Davor Lessel
4
;
27
;
Heleen H. Arts
1
;
25
;
27
;
Taco W. Kuijpers
2
;
27
;
t.w.kuijpers@amc.uva.nl
关键词:
exostosin
;
EXTL3
;
T cell SCID
;
heparan sulfate
;
neuro-immuno-skeletal dysplasia
刊名:The American Journal of Human Genetics
出版年:2017
2.
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses
作者:
Diana L. Cousminer
a
;
b
;
cousminerd@email.chop.edu" class="auth_mail" title="E-mail the corresponding author
;
Alexandre Arkader
c
;
Benjamin F. Voight
b
;
d
;
e
;
Maurizio Pacifici
c
;
Struan F.A. Grant
a
;
f
;
g
;
grants@email.chop.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
HME
;
hereditary multiple exostoses
;
MO
;
multiple osteochondromas
;
EXT1
;
exostosin
glycosyltransferase 1
;
EXT2
;
exostosin
glycosyltransferase 2
;
ExAC
;
Exome Aggregation Consortium
;
MOdb
;
Multiple Osteochondromas database
;
LoF
;
loss of function
;
pLI
;
probability of being LoF intolerant
刊名:Bone
出版年:2016
3.
Case Report of the positive
exostosin
-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis
作者:
I Gede Eka Wiratnaya
a
;
ekawiratnaya@gmail.com
;
Nyoman Gede Aditya Gitapradita B.
b
;
I G.N. Yudhi Setiawan
b
;
I Ketut Suyasa
c
;
I Ketut Siki Kawiyana
d
;
Putu Astawa
d
关键词:
Case report
;
EXT-1 gene
;
BCL-2 gene
;
Giant cell tumor
;
Hereditary multiple exostosis
刊名:International Journal of Surgery Case Reports
出版年:2016
4.
The cartilage extracellular matrix as a transient developmental scaffold for growth plate maturation
作者:
James Melrose
a
;
b
;
c
;
Cindy Shu
a
;
John M. Whitelock
b
;
Megan S. Lord
b
;
m.lord@unsw.edu.au" class="auth_mail" title="E-mail the corresponding author
关键词:
ACAN/Acan
;
aggrecan gene
;
ADAMTS
;
a disintegrin and metalloproteinase with thrombospondin motifs
;
ALK
;
activin-like kinases
;
BMP
;
bone morphogenic protein
;
BMPR
;
BMP receptor
;
CD
;
cluster of differentiation
;
Col2a1
;
collagen type 2 α1 chain gene
;
Col10a1
;
collagen type 10 α1 chain gene
;
CS
;
chondroitin sulfate
;
ECM
;
extracellular matrix
;
EXT/Ext
;
exostosin
copolymerase
;
FGF
;
fibroblast growth factor
;
FGFR
;
FGF receptor
;
Fgfr
;
FGFR gene
;
Frzb-1
;
frizzled-related protein
;
GDF
;
growth differentiati
刊名:Matrix Biology
出版年:2016
5.
EXTL2 controls liver regeneration and aortic calcification through xylose kinase-dependent regulation of glycosaminoglycan biosynthesis
作者:
Satomi Nadanaka
;
Hiroshi Kitagawa
;
kitagawa@kobepharma-u.ac.jp" class="auth_mail
关键词:
Proteoglycans
;
Heparan sulfate (HS)
;
Chondroitin sulfate (CS)
;
Exostosin
(EXT) gene family
;
Liver regeneration
;
Aortic calcification
刊名:Matrix Biology
出版年:April 2014
6.
Heparan sulfate expression in the neural crest is essential for mouse cardiogenesis
作者:
Yi Pan
a
;
Christian Carbe
b
;
Sabine Kupich
c
;
Ute Pickhinke
c
;
Stefanie Ohlig
c
;
d
;
Maike Frye
d
;
Ruth Seelige
d
;
Srinivas R. Pallerla
d
;
Anne M. Moon
e
;
f
;
g
;
Roger Lawrence
h
;
Jeffrey D. Esko
h
;
Xin Zhang
b
;
Kay Grobe
c
;
d
;
kgrobe@uni-muenster.de" class="auth_mail
关键词:
VSD
;
Ventricular septal defect
;
DORV
;
Double outlet right ventricle
;
PTA
;
Persistent truncus arteriosus
;
RERSC
;
Retroesophageal right subclavian artery
;
NDST
;
GlcNAc N-deacetylase/GlcN N-sulfotransferase
;
EXT1
;
Exostosin
1
;
NCC
;
Neural crest cell
;
FGF
;
Fibroblast growth factor
;
FGFR
;
Fibroblast growth factor receptor
;
PA
;
Pharyngeal arch
;
CNC
;
Cardiac neural crest
;
OFT
;
Outflow tract
;
HS
;
Heparan sulfate
;
HSPG
;
Heparan sulfate proteoglycan
;
MAPK
;
Mitogen-activated protein kinase
;
ERK
;
Extracellu
刊名:Matrix Biology
出版年:April 2014
7.
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis
作者:
Michele Ciavarella
a
;
1
;
ciavarellamichele@hotmail.it
;
Michelina Coco
a
;
1
;
2
;
michelacoco@tiscali.it
;
Filomena Baorda
a
;
filomenabaorda@yahoo.it
;
Pietro Stanziale
a
;
stanzialepietro@yahoo.it
;
Massimiliano Chetta
b
;
m_ax@libero.it
;
Luigi Bisceglia
a
;
l.bisceglia@operapadrepio.it
;
Pietro Palumbo
a
;
c
;
p.palumbo@operapadrepio.it
;
Mario Bengala
d
;
mario.bengala@ptvonline.it
;
Paola Raiteri
e
;
acar.2006@libero.it
;
Margherita Silengo
f
;
margherita.cirillosilengo@unito.it
;
Camilla Caldarini
g
;
camilla.caldarini@icp.mi.it
;
Renato Facchini
g
;
renato.facchini@unimi.it
;
Roberto Lala
h
;
roberto.lala@unito.it
;
Maria Luigia Cavaliere
i
;
mlcavaliere@libero.it
;
Davide De Brasi
i
;
davidedebrasi@libero.it
;
Barbara Pasini
j
;
barbara.pasini@unito.it
;
Leopoldo Zelante
a
;
zelante@operapadrepio.it
;
Vito Guarnieri
a
;
v.guarnieri@operapadrepio.it
;
Leonardo D'Agruma
a
;
l.dagruma@operapadrepio.it
关键词:
HME
;
hereditary multiple exostosis
;
EXT1
;
exostosin
1
;
EXT2
;
exostosin
2
;
EXT3
;
exostosin
3
;
MLPA
;
multiple ligation probes dependent amplification
;
MO
;
multiple osteochondrosarcomas
;
PCR
;
polymerase chain reaction
;
Array GH
;
array genomic hybridization
刊名:Gene
出版年:2013
8.
Lack of replication of common EXT2 gene variants with susceptibility to type 2 diabetes in Lebanese Arabs
作者:
R. Nemr
;
A.S. Al-Busaidi
;
M.S. Sater
;
A. Echtay
;
F.L. Saldanha
;
E. Racoubian
;
S.H. Keleshian
;
W.Y. Almawi
关键词:
Diabetes
;
Exostosin
-2
;
Haplotypes
;
Replication studies
刊名:Diabetes Metabolism
出版年:December, 2013
9.
Mutation screening of EXT genes in Chinese patients with multiple osteochondromas
作者:
Zuming Kang
;
Fenglan Peng
;
Tianyou Ling
关键词:
MO
;
multiple osteochondromas
;
EXT1
;
Homo sapiens
exostosin
1
;
EXT2
;
Homo sapiens
exostosin
2
;
PCR
;
polymerase chain reaction
;
SNP
;
single nucleotide polymorphism
;
IHH
;
Indian hedgehog
刊名:Gene
出版年:2012
10.
Metabolic engineering of Chinese hamster ovary cells: Towards a bioengineered heparin
作者:
Jong Youn Baik
a
;
1
;
Leyla Gasimli
b
;
1
;
Bo Yang
c
;
Payel Datta
b
;
Fuming Zhang
d
;
Charles A. Glass
e
;
2
;
Jeffrey D. Esko
e
;
Robert J. Linhardt
b
;
c
;
d
;
Susan T. Sharfstein
a
;
ssharfstein@albany.edu
关键词:
GAG
;
glycosaminoglycan
;
IdoA
;
l-iduronic acid
;
GlcA
;
d-glucuronic acid
;
GlcNAc
;
N-acetyl-d-glucosamine
;
CHO
;
Chinese hamster ovary
;
HS
;
heparan sulfate
;
ATIII
;
antithrombin III
;
Ext
;
exostosin
;
Ndst
;
N-deacetylase/N-sulfotransferase
;
Hs6st
;
heparan sulfat
刊名:Metabolic Engineering
出版年:2012
1
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