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Elsevier电子期刊(3936)
在“
Elsevier电子期刊
”中,
命中:
3,936
条,耗时:小于0.01 秒
在所有数据库中总计命中:
3,936
条
1.
Therapeutic benefit observed with the
CFT
R 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
;
CFT
R potentiator
;
Ivacaftor
;
Readthrough
刊名:Journal of Cystic Fibrosis
出版年:2017
2.
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and
CFT
R2 Data to Facilitate Diagnoses
作者:
Patrick R. Sosnay
;
MD
1
;
Danieli B. Salinas
;
MD
2
;
Terry B. White
;
PhD
3
;
Clement L. Ren
;
MD
4
;
Philip M. Farrell
;
MD
;
PhD
5
;
Karen S. Raraigh
;
MGC
6
;
Emmanuelle Girodon
;
MD
7
;
Carlo Castellani
;
MD
8
关键词:
CFT
R genetic testing
;
CFT
R mutations
;
CFT
R-related disorder
;
cystic fibrosis
;
genotype
;
genotype-phenotype correlation mutation
;
MVCC
;
penetrance
;
variant
刊名:The Journal of Pediatrics
出版年:2017
3.
Changes of
CFT
R functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor
作者:
Myriam Mesbahi
a
;
1
;
Michal Shteinberg
b
;
c
;
1
;
Michael Wilschanski
d
;
Aurelie Hatton
a
;
Thao Nguyen&ndash
;
Khoa
a
;
Hannah Friedman
d
;
Michael Cohen
d
;
Virginie Escabasse
e
;
Muriel Le Bourgeois
a
;
Vicenzina Lucidi
f
;
Isabelle Sermet-Gaudelus
f
;
Isabelle.sermet@aphp.fr
;
Laurence Bassinet
g
;
2
;
Galit Livnat
b
;
c
;
2
关键词:
Cystic fibrosis
;
Nasal potential difference
;
Evaporimetry
;
Short circuit current
;
Ivacaftor
;
CFT
R modulators
刊名:Journal of Cystic Fibrosis
出版年:2017
4.
Specific stabilization of
CFT
R by phosphatidylserine
作者:
Ellen Hildebrandt
a
;
ellen.hildebrandt@ttuhsc.edu
;
Netaly Khazanov
b
;
netalyk@gmail.com
;
John C. Kappes
c
;
d
;
kappesjc@uab.edu
;
Qun Dai
c
;
daiq@uab.edu
;
Hanoch Senderowitz
b
;
hanoch@biu.ac.il
;
hsenderowitz@gmail.com
;
Ina L. Urbatsch
a
;
ina.urbatsch@ttuhsc.edu
关键词:
CF
;
cystic fibrosis
;
CFT
R
;
cystic fibrosis transmembrane conductance regulator
;
EGFP
;
enhanced green fluorescent protein
;
NBD
;
nucleotide binding domain
;
PI
;
phosphatidylinositol
;
POPC
;
1-palmitoyl-2-oleoyl-phosphatidylcholine
;
POPE
;
1-palmitoyl-2-oleoyl-phosphatidylethanolamine
;
POPG
;
1-palmitoyl-2-oleoyl-phosphatidylglycerol
;
POPS
;
1-palmitoyl-2-oleoyl-phosphatidylserine
;
RI
;
regulatory insertion
;
2PT
;
S492P/A534P/I539T
刊名:Biochimica et Biophysica Acta (BBA) - Biomembranes
出版年:2017
5.
Structural and functional study of ChuY from Escherichia coli strain
CFT
073
作者:
Hun Kim
a
;
2
;
Akhilesh Kumar Chaurasia
a
;
2
;
Truc Kim
a
;
Jongkeun Choi
b
;
Sung Chul Ha
c
;
Doyoun Kim
a
;
1
;
Kyeong Kyu Kim
a
;
kyeongkyu@skku.edu
关键词:
chuY
;
Crystal structure
;
Flavin reductase
;
Heme/iron homeostasis
;
Hypothetical protein
;
Uropathogenic E. coli
CFT
073
刊名:Biochemical and Biophysical Research Communications
出版年:2017
6.
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
作者:
Philip M. Farrell
;
MD
;
PhD
1
;
Terry B. White
;
PhD
2
;
Clement L. Ren
;
MD
3
;
Sarah E. Hempstead
;
MS
2
;
Frank Accurso
;
MD
4
;
Nico Derichs
;
MD
5
;
Michelle Howenstine
;
MD
3
;
Susanna A. McColley
;
MD
6
;
Michael Rock
;
MD
1
;
Margaret Rosenfeld
;
MD
;
MPH
7
;
Isabelle Sermet-Gaudelus
;
MD
;
PhD
8
;
Kevin W. Southern
;
MBChB
;
PhD
9
;
Bruce C. Marshall
;
MD
2
;
Patrick R. Sosnay
;
MD
10
关键词:
newborn screening
;
CF-screen positive
;
inconclusive diagnosis
;
CFT
R-related metabolic syndrome
;
immunoreactive trypsinogen
;
intestinal current measurement
;
nasal potential difference
;
pancreatitis associated protein
;
sweat test
刊名:The Journal of Pediatrics
出版年:2017
7.
New horizons for cystic fibrosis treatment
作者:
Isabelle Fajac
a
;
b
;
isabelle.fajac@parisdescartes.fr
;
Kris De Boeck
c
;
christiane.deboeck@uzleuven.be
关键词:
CF
;
cystic fibrosis
;
CFT
R
;
cystic fibrosis transmembrane conductance regulator
;
MSD
;
membrane-spanning domain
;
NBD
;
nucleotide-binding domain
;
FEV1
;
forced expiratory volume in 1
s
刊名:Pharmacology & Therapeutics
出版年:2017
8.
Diagnosis of Cystic Fibrosis in Nonscreened Populations
作者:
Patrick R. Sosnay
;
MD
1
;
Terry B. White
;
PhD
2
;
Philip M. Farrell
;
MD
;
PhD
3
;
Clement L. Ren
;
MD
4
;
Nico Derichs
;
MD
5
;
Michelle S. Howenstine
;
MD
4
;
Jerry A. Nick
;
MD
6
;
Kris De Boeck
;
MD
7
关键词:
CFT
R-related disorder
;
cystic fibrosis
;
genotype
;
mutation
;
penetrance
;
variant
;
atypical CF
;
adult diagnosis of CF
刊名:The Journal of Pediatrics
出版年:2017
9.
Correlation of sweat chloride and percent predicted FEV
1
in cystic fibrosis patients treated with ivacaftor
作者:
Meredith C. Fidler
a
;
Meredith_fidler@vrtx.com
;
Jack Beusmans
b
;
Paul Panorchan
b
;
Fredrick Van Goor
a
关键词:
CF
;
cystic fibrosis
;
CFT
R
;
CF transmembrane conductance regulator
;
CI
;
confidence interval
;
ppFEV1
;
percent predicted forced expiratory volume in 1
s ;
q12h
;
every 12
h
刊名:Journal of Cystic Fibrosis
出版年:2017
10.
Molecular analysis of exon 13 of cystic fibrosis patients in Middle East: High frequency of K710X mutation
作者:
Nasibeh Karimi
a
;
Nasibe.karimi23@gmail.com
;
Reza Alibakhshi
b
;
ralibakhshi@kums.ac.ir
关键词:
CFT
R
;
Cystic fibrosis
;
K710X
;
Iran
;
Middle East
刊名:Meta Gene
出版年:2017
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按检索点细分(3936)
题名(1212)
作者(2)
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