Blinded by the UV light: How the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease
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journal
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August 2013 |
First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure
- Jaspers, Nicolaas G. J.; Raams, Anja; Silengo, Margherita Cirillo
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The American Journal of Human Genetics, Vol. 80, Issue 3
https://doi.org/10.1086/512486
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journal
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March 2007 |
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne Syndrome Group B DNA repair genes
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October 2001 |
Characterization of premature liver polyploidy in DNA repair (Ercc1)-deficient mice
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journal
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October 2003 |
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair
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April 2012 |
A mouse model of accelerated liver aging caused by a defect in DNA repair
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journal
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January 2012 |
Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene
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January 2001 |
The Hallmarks of Aging
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June 2013 |
The xeroderma pigmentosum pathway: Decision tree analysis of DNA quality
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July 2011 |
Emerging links between premature ageing and defective DNA repair
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July 2008 |
Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome
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February 2010 |
Accelerated aging of intervertebral discs in a mouse model of progeria
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June 2010 |
Identification of the XPG Region That Causes the Onset of Cockayne Syndrome by Using Xpg Mutant Mice Generated by the cDNA-Mediated Knock-In Method
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April 2004 |
Correction of liver dysfunction in DNA repair-deficient mice with an ERCC1 transgene
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November 2001 |
Age-Related Neuronal Degeneration: Complementary Roles of Nucleotide Excision Repair and Transcription-Coupled Repair in Preventing Neuropathology
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December 2011 |
Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice
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journal
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January 2007 |
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: Implications for a second XPG function
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text
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January 1997 |
Synaptic Proteome Changes in a DNA Repair Deficient Ercc1 Mouse Model of Accelerated Aging
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January 2012 |
Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles
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October 2006 |
Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways
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December 2002 |
Dual Roles for Glucokinase in Glucose Homeostasis as Determined by Liver and Pancreatic β Cell-specific Gene Knock-outs Using Cre Recombinase
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January 1999 |
Cockayne syndrome pathogenesis: Lessons from mouse models
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May 2013 |
Comet-FISH with strand-specific probes reveals transcription-coupled repair of 8-oxoGuanine in human cells
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June 2013 |
Nucleotide Excision Repair in Eukaryotes
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October 2013 |
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
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journal
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April 2012 |
A Transgenic Mouse Line That Retains Cre Recombinase Activity in Mature Oocytes Irrespective of thecreTransgene Transmission
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August 1997 |
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair
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April 2012 |
Dorsal telencephalon-specific expression of Cre recombinase in PAC transgenic mice
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January 2004 |
Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice
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January 2007 |
A new mathematical model for relative quantification in real-time RT-PCR
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May 2001 |
Structure, function and regulation of CSB: A multi-talented gymnast
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May 2013 |
DNA Damage, Aging, and Cancer [Correction]
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November 2009 |
The role of CSA in the response to oxidative DNA damage in human cells
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February 2007 |
Recognition of RNA Polymerase II and Transcription Bubbles by XPG, CSB, and TFIIH: Insights for Transcription-Coupled Repair and Cockayne Syndrome
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journal
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October 2005 |
Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration
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January 2013 |
Retinal Degeneration and Ionizing Radiation Hypersensitivity in a Mouse Model for Cockayne Syndrome
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December 2006 |
Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects
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journal
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January 2008 |
Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration
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September 2009 |
Understanding nucleotide excision repair and its roles in cancer and ageing
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June 2014 |
Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence
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journal
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June 1997 |
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts
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journal
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January 2006 |
Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice
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text
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January 2011 |
XPG: Its Products and Biological Roles
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book
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January 2008 |
Premature Aging in Mice Deficient in DNA Repair and Transcription
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April 2002 |
Oxidative stress in cell culture: an under-appreciated problem?
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March 2003 |
Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning
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journal
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November 1993 |
ADAMTS5−/− mice have less subchondral bone changes after induction of osteoarthritis through surgical instability: implications for a link between cartilage and subchondral bone changes
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May 2009 |
The role of XPC: Implications in cancer and oxidative DNA damage
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journal
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November 2011 |
Shining a Light on Xeroderma Pigmentosum
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journal
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March 2012 |
Age-Related Skeletal Dynamics and Decrease in Bone Strength in DNA Repair Deficient Male Trichothiodystrophy Mice
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journal
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April 2012 |
XPG and XPF Endonucleases Trigger Chromatin Looping and DNA Demethylation for Accurate Expression of Activated Genes
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August 2012 |
Preferential Repair of Oxidized Base Damage in the Transcribed Genes of Mammalian Cells
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journal
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December 2010 |
Adaptive Stress Response in Segmental Progeria Resembles Long-Lived Dwarfism and Calorie Restriction in Mice
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journal
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January 2006 |
The Role of Galectin-3/MAC-2 in the Activation of the Innate-Immune Function of Phagocytosis in Microglia in Injury and Disease
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journal
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February 2009 |
Deficiency in the Nuclease Activity of Xeroderma Pigmentosum G in Mice Leads to Hypersensitivity to UV Irradiation
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journal
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March 2004 |
An Xpb Mouse Model for Combined Xeroderma Pigmentosum and Cockayne Syndrome Reveals Progeroid Features upon Further Attenuation of DNA Repair
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journal
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December 2008 |
Mammalian Transcription-Coupled Excision Repair
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August 2013 |
XPF-ERCC1 Acts in Unhooking DNA Interstrand Crosslinks in Cooperation with FANCD2 and FANCP/SLX4
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journal
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May 2014 |
Trichothiodystrophy: From basic mechanisms to clinical implications
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January 2010 |
Different Effects of CSA and CSB Deficiency on Sensitivity to Oxidative DNA Damage
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August 2004 |
Human NTH1 physically interacts with p53 and proliferating cell nuclear antigen
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journal
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August 2004 |
XPG Stabilizes TFIIH, Allowing Transactivation of Nuclear Receptors: Implications for Cockayne Syndrome in XP-G/CS Patients
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journal
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April 2007 |
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria
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August 2006 |
High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene
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journal
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September 1995 |
Neurological symptoms and natural course of xeroderma pigmentosum
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journal
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January 2008 |
Lifespan extension by dietary intervention in a mouse model of Cockayne Syndrome uncouples early postnatal development from segmental progeria
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September 2013 |
Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice
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journal
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August 2011 |
The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome
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June 2011 |
Database of mouse strains carrying targeted mutations in genes affecting biological responses to DNA damage Version 7
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February 2006 |
Requirement of Yeast RAD2, a Homolog of Human XPG Gene, for Efficient RNA Polymerase II Transcription
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June 2002 |
Hallmarks of Cancer: The Next Generation
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March 2011 |
Targeted detection of in vivo endogenous DNA base damage reveals preferential base excision repair in the transcribed strand
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September 2011 |
Postnatal Growth Failure, Short Life Span, and Early Onset of Cellular Senescence and Subsequent Immortalization in Mice Lacking the Xeroderma Pigmentosum Group G Gene
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journal
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March 1999 |
The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging
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journal
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July 2008 |
Efficient FLP recombination in mouse ES cells and oocytes
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January 2001 |
DNA Damage, Aging, and Cancer
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October 2009 |
Regulation ofp53downstream genes
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January 1998 |
New functions of XPC in the protection of human skin cells from oxidative damage
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September 2006 |
DNA repair: From molecular mechanism to human disease
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August 2006 |
ATP-Dependent Chromatin Remodeling by Cockayne Syndrome Protein B and NAP1-Like Histone Chaperones Is Required for Efficient Transcription-Coupled DNA Repair
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journal
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April 2013 |
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship
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journal
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April 2007 |
Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice
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journal
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January 2005 |
A comprehensive description of the severity groups in Cockayne syndrome
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April 2011 |
Definition of a Short Region of XPG Necessary for TFIIH Interaction and Stable Recruitment to Sites of UV Damage
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November 2004 |
Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice
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July 2010 |
Nucleotide excision repair 3' endonuclease XPG stimulates the activity of base excision repairenzyme thymine glycol DNA glycosylase
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text
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January 1999 |
Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg
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March 2005 |
Delayed and Accelerated Aging Share Common Longevity Assurance Mechanisms
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August 2008 |
Persistent transcription-blocking DNA lesions trigger somatic growth attenuation associated with longevity
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April 2009 |
An in vivo analysis of MMC-induced DNA damage and its repair
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October 2005 |
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: Implications for a second XPG function
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April 1997 |
Nucleotide excision repair 3' endonuclease XPG stimulates the activity of base excision repairenzyme thymine glycol DNA glycosylase
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February 1999 |
Nucleotide excision repair–initiating proteins bind to oxidative DNA lesions in vivo
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December 2012 |
Tissue specific mutagenic and carcinogenic responses in NER defective mouse models
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January 2007 |
Nucleotide excision repair deficient mouse models and neurological disease
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July 2008 |
Brain vascular changes in Cockayne syndrome: Brain vessels in Cockayne syndrome
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July 2011 |
Coordination of dual incision and repair synthesis in human nucleotide excision repair
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March 2009 |
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
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December 2006 |
A history of TFIIH: Two decades of molecular biology on a pivotal transcription/repair factor
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July 2011 |
Regulation of endonuclease activity in human nucleotide excision repair
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July 2011 |
Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease
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July 2011 |
ERCC1-XPF Endonuclease Facilitates DNA Double-Strand Break Repair
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June 2008 |
Impaired Genome Maintenance Suppresses the Growth Hormone–Insulin-Like Growth Factor 1 Axis in Mice with Cockayne Syndrome
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December 2006 |
Cell Survival Responses to Environmental Stresses Via the Keap1-Nrf2-ARE Pathway
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February 2007 |
The xeroderma pigmentosum pathway: decision tree analysis of DNA quality
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text
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January 2011 |
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
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May 2013 |
Functional and molecular genetic analyses of nine newly identified XPD -deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes
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June 2013 |
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
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June 2004 |
Novel XPG ( ERCC5 ) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress
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March 2013 |
Characterization of premature liver polyploidy in DNA repair (Ercc1)-deficient mice
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October 2003 |
Review: Axon pathology in age-related neurodegenerative disorders: Age-related axon pathology
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January 2013 |
Characterization of Three XPG-Defective Patients Identifies Three Missense Mutations that Impair Repair and Transcription
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July 2013 |
Genome maintenance mechanisms for preventing cancer
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May 2001 |
The molecular basis for different disease states caused by mutations in TFIIH and XPG
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February 2008 |
Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients
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June 2002 |
Aging: not all DNA damage is equal
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June 2014 |
New Insights into the Combined Cockayne/Xeroderma Pigmentosum Complex: Human XPG Protein Can Function in Transcription Factor Stability
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April 2007 |
Neurodegeneration in hereditary nucleotide repair disorders
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July 1999 |
Base Excision Repair of Oxidative DNA Damage Activated by XPG Protein
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January 1999 |
Photosensitivity syndrome brings to light a new transcription-coupled DNA repair cofactor
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April 2012 |
Impaired liver regeneration in Nrf2 knockout mice: role of ROS-mediated insulin/IGF-1 resistance
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December 2007 |
Retraction for Nouspikel et al., A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: Implications for a second XPG function
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December 2006 |
Multiple DNA Binding Domains Mediate the Function of the ERCC1-XPF Protein in Nucleotide Excision Repair
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April 2012 |
KIAA1530 Protein Is Recruited by Cockayne Syndrome Complementation Group Protein A (CSA) to Participate in Transcription-coupled Repair (TCR)
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August 2012 |
Spatio-temporal Analysis of Molecular Determinants of Neuronal Degeneration in the Aging Mouse Cerebellum
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February 2013 |
Neurodegeneration in xeroderma pigmentosum
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January 2008 |
Growth Retardation, Early Death, and DNA Repair Defects in Mice Deficient for the Nucleotide Excision Repair Enzyme XPF
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January 2004 |
Mouse Models for Xeroderma Pigmentosum Group A and Group C Show Divergent Cancer Phenotypes
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An Improved Segmentation Method for In Vivo μCT Imaging
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July 2004 |
Corticospinal control during reach, grasp, and precision lift in man
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September 1995 |
Accelerated Age-Related Cognitive Decline and Neurodegeneration, Caused by Deficient DNA Repair
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August 2011 |
Prelamin A and Oct-1: a puzzle of aging
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January 2015 |
Neuroimaging In Cockayne Syndrome
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June 2010 |