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注意：仅列出部分参考文献，下载原文获取全部文献信息。Current and emerging roles of Cockayne syndrome group B (CSB) protein
Vinod Tiwari et al.
NUCLEIC ACIDS RESEARCH (2021)
Clinical and Mutation Spectra of Cockayne Syndrome in India
Dhanya L. Narayanan et al.
NEUROLOGY INDIA (2021)
Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation
Mustafa N. Okur et al.
NUCLEIC ACIDS RESEARCH (2020)
Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome
Alexey Epanchintsev et al.
SCIENTIFIC REPORTS (2020)
Focus on UV-Induced DNA Damage and Repair-Disease Relevance and Protective Strategies
Mateusz Kciuk et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
The Cockayne syndrome group A and B proteins are part of a ubiquitin-proteasome degradation complex regulating cell division
Elena Paccosi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease
Alexandre Teixeira Vessoni et al.
GENETICS AND MOLECULAR BIOLOGY (2020)
Consanguinity and Inbreeding in Health and Disease in North African Populations
Lilia Romdhane et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 20, 2019 (2019)
CSB promoter downregulation via histone H3 hypoacetylation is an early determinant of replicative senescence
Clement Crochemore et al.
NATURE COMMUNICATIONS (2019)
A RARE CAUSE OF 'MITOCHONDRIAL DISORDER': COCKAYNE SYNDROME
Arie Fisher et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2019)
AnnotSV: an integrated tool for structural variations annotation
Veronique Geoffroy et al.
BIOINFORMATICS (2018)
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome
Nadege Calmels et al.
JOURNAL OF MEDICAL GENETICS (2018)
TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A
Alex Pines et al.
NATURE COMMUNICATIONS (2018)
Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review
Yao Kou et al.
MEDICINE (2018)
Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation
Alexey Epanchintsev et al.
MOLECULAR CELL (2017)
Cockayne syndrome: Clinical features, model systems and pathways
Ajoy C. Karikkineth et al.
AGEING RESEARCH REVIEWS (2017)
The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings
N. Blin-Rochemaure et al.
ARCHIVES DE PEDIATRIE (2017)
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
Brian T. Wilson et al.
GENETICS IN MEDICINE (2016)
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair
Yooksil Sin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Nadege Calmels et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome
Cyril Gitiaux et al.
CLINICAL NEUROPHYSIOLOGY (2015)
Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome
Laurent Chatre et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
VaRank: a simple and powerful tool for ranking genetic variants
Veronique Geoffroy et al.
PEERJ (2015)
A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents
Nan Jia et al.
NATURE PROTOCOLS (2015)
CANOES: detecting rare copy number variants from whole exome sequencing data
Daniel Backenroth et al.
NUCLEIC ACIDS RESEARCH (2014)
Regulation of the Rhp26ERCC6/CSB chromatin remodeler by a novel conserved leucine latch motif
Lanfeng Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Cockayne syndrome: The expanding clinical and mutational spectrum
Vincent Laugel
MECHANISMS OF AGEING AND DEVELOPMENT (2013)
Mitochondrial deficiency in Cockayne syndrome
Morten Scheibye-Knudsen et al.
MECHANISMS OF AGEING AND DEVELOPMENT (2013)
Structure, function and regulation of CSB: A multi-talented gymnast
Robert J. Lake et al.
MECHANISMS OF AGEING AND DEVELOPMENT (2013)
A possible cranio-oro-facial phenotype in Cockayne syndrome
Agnes Bloch-Zupan et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Consanguinity, endogamy, and genetic disorders in Tunisia
Nizar Ben Halim et al.
JOURNAL OF COMMUNITY GENETICS (2013)
Interaction between the Cockayne syndrome B and p53 proteins: implications for aging
Mattia Frontini et al.
AGING-US (2012)
A Comprehensive Description of the Severity Groups in Cockayne Syndrome
Valerie Natale
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
High Carriers Frequency of an Apparently Ancient Founder Mutation p.Tyr322X in the ERCC8 Gene Responsible for Cockayne Syndrome Among Christian Arabs in Northern Israel
Morad Khayat et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives
Yuka Nakazawa et al.
DNA REPAIR (2010)
Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane
Maria D. Aamann et al.
FASEB JOURNAL (2010)
Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome
V. Laugel et al.
HUMAN MUTATION (2010)
NER Factors Are Recruited to Active Promoters and Facilitate Chromatin Modification for Transcription in the Absence of Exogenous Genotoxic Attack
Nicolas Le May et al.
MOLECULAR CELL (2010)
An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome
John C. Newman et al.
PLOS GENETICS (2008)
Cockayne syndrome exhibits dysregulation of p21 and other gene products that may be independent of transcription-coupled repair
J. E. Cleaver et al.
NEUROSCIENCE (2007)
Age-related differences in renal function at onset of renal replacement therapy in chronic kidney disease stage 5 patients
S. A. Balogun et al.
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2006)
Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family
Fatma Mujgan Sonmez et al.
JOURNAL OF CHILD NEUROLOGY (2006)
ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor
E Citterio et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
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