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Elsevier电子期刊(109)
在“
Elsevier电子期刊
”中,
命中:
109
条,耗时:小于0.01 秒
在所有数据库中总计命中:
109
条
1.
A novel mutation in the C7orf11 gene causes nonphotosensitive
trichothiodystroph
y in a multiplex highly consanguineous kindred
作者:
Ben Pode-Shakked
a
;
f
;
g
;
ben_pode@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Dina Marek-Yagel
a
;
Shoshana Greenberger
b
;
g
;
Naomi Pode-Shakked
c
;
f
;
g
;
Elon Pras
d
;
g
;
Aviv Barzilai
b
;
g
;
Saeed Yassin
e
;
Yechezkel Sidi
e
;
g
;
Yair Anikster
a
;
g
关键词:
C7orf11
;
Trichothiodystroph
y
;
TTD
;
TTDN1
;
MPLKIP
;
Brittle hair
刊名:European Journal of Medical Genetics
出版年:2015
2.
Understanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition
作者:
Yik Weng Yew
;
MBBS
;
MPH
a
;
Cerrene N. Giordano
;
MD
b
;
Graciela Spivak
;
PhD
c
;
Henry W. Lim
;
MD
b
;
hlim1@hfhs.org" class="auth_mail" title="E-mail the corresponding author
关键词:
cerebro-oculo-facial-skeletal syndrome
;
Cockayne syndrome
;
nucleotide excision repair
;
photodermatoses
;
photosensitivity
;
trichothiodystroph
y
;
UV-sensitive syndrome
刊名:Journal of the American Academy of Dermatology
出版年:2016
3.
Human DNA repair disorders in dermatology: A historical perspective, current concepts and new insight
作者:
Shinichi Moriwaki
;
der002@osaka-med.ac.jp" class="auth_mail" title="E-mail the corresponding author
Author Vitae
关键词:
BER
;
base excision repair
;
COFS
;
cerebro&ndash
;
oculo&ndash
;
facio-skeletal syndrome
;
CPD
;
cyclobutane pyrimidine dimers
;
CS
;
Cockayne syndrome
;
FA
;
Fanconi anemia
;
GG-NER
;
global genome repair
;
NER
;
nucleotide excision repair
;
6&ndash
;
4 PP
;
pyrimidine (6&ndash
;
4) pyrimidone photoproducts
;
ROS
;
reactive oxygen species
;
TC-NER
;
transcription-coupled repair
;
TLS
;
translesion synthesis
;
TTD
;
trichothiodystroph
y
;
UV
;
ultraviolet
;
UVSS
;
UV-sensitive syndrome
;
UVSSA
;
UV-stimulated scaffold protein A
;
XP
刊名:Journal of Dermatological Science
出版年:2016
4.
XPA: A key scaffold for human nucleotide excision repair
作者:
Norie Sugitani
;
Robert M. Sivley
;
Kelly E. Perry
;
John A. Capra
;
Walter J. Chazin
;
Walter.Chazin@vanderbilt.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
NER
;
nucleotide excision repair
;
XP
;
Xeroderma pigmentosum
;
TFIIH
;
transcription factor II H
;
RPA
;
replication protein A
;
WT
;
wild type
;
FL
;
full-length
;
AAF
;
N-(deoxyguanosin-8-yl)-2-acetylaminofluorene
;
(6-4)PP
;
(6-4)photoproduct
;
CPD
;
cyclobutane pyrimidine dimer
;
DDB
;
damaged DNA-binding protein
;
CAK
;
cyclin-activated kinase
;
TTD
;
trichothiodystroph
y
;
PCNA
;
proliferating cell nuclear antigen
;
APIM
;
AlkB homolog 2 PCNA interacting motif
;
NLS
;
nuclear localization signal
刊名:DNA Repair
出版年:2016
5.
PP04.10 - 2544:
Trichothiodystroph
y presenting with cardiomyopathy and recurrent arterial ischemic strokes
作者:
S. Harmsen
;
F. Distelmaier
;
J. Frank
;
M. Karenfort
;
D. Tibussek
刊名:European Journal of Paediatric Neurology
出版年:2015
6.
P130 - 2830: Tay syndrome associated with Perthes disease
作者:
F.M. Sonmez
;
O.Y. Yavuz
;
S. Erpolat
;
H. Haltas
;
H.I. Aydin
刊名:European Journal of Paediatric Neurology
出版年:2015
7.
Matrix metalloproteinase enzymes and their naturally derived inhibitors: Novel targets in photocarcinoma therapy
作者:
Anshita Gupta
;
Chanchal Deep Kaur
;
Manmohan Jangdey
;
Swarnlata Saraf
关键词:
MMP
;
matrix metalloproteinase
;
MMPIs
;
matrix metalloproteinase inhibitors
;
ECM
;
extracellular matrix
;
SC
;
stratum coreneum
;
UVB
;
ultraviolet radiations B
;
NMSC
;
non-melanoma skin cancer
;
SCC
;
squamous cell carcinoma
;
BCC
;
basal cell carcinoma
;
DNA
;
deoxyribonucleic acid
;
CPD
;
cyclobutane pyrimidine dimmers
;
NER
;
nucleotide excision repair
;
TCR
;
transcription-coupled repair
;
GGR
;
global genome repair
;
LE
;
lupus erythematosus
;
XP
;
xeroderma pigmentosum
;
TTD
;
trichothiodystroph
y
;
ODC
;
ornithine dec
刊名:Ageing Research Reviews
出版年:January, 2014
8.
Trichothiodystroph
y: From basic mechanisms to clinical implications
作者:
M. Stefanini
;
E. Botta
;
M. Lanzafame
;
D. Orioli
关键词:
TFIIH
;
Transcription
;
Gene expression regulation
;
Nucleotide excision repair
;
Trichothiodystroph
y
;
Xeroderma pigmentosum
刊名:DNA Repair
出版年:2010
9.
Disease-causing missense mutations in human DNA helicase disorders
作者:
Avvaru N. Suhasini
1
;
Robert M. Brosh Jr
;
broshr@mail.nih.gov
关键词:
Helicase
;
DNA repair
;
Replication
;
Human genetic disease
;
Genomic stability
;
Mutation
刊名:Mutation Research/Reviews in Mutation Research
出版年:2013
10.
A bona fide model for age-related osteoporosis in accelerated aging
trichothiodystroph
y (TTD) mice
作者:
S.M. Botter
1
;
;
I. Van der Pluijm
2
;
S. Gabrië
;
ls
2
;
L. Gerris
2
;
J.P. Van Leeuwen
3
;
J.H. Hoeijmakers
1
关键词:
icro CT
;
osteoporosis model
;
trichothiodystroph
y
刊名:Bone
出版年:2010
1
2
3
4
5
6
7
8
9
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