|1.||Rare Diseases (Rare Disease)
|2.||Xeroderma Pigmentosum (Kaposi's Disease)
|4.||Progeria (Hutchinson Gilford Syndrome)
|5.||Werner Syndrome (Werner's Syndrome)
|1.||Bohr, Vilhelm A: 22 articles (11/2014 - 02/2002)|
|2.||Tanaka, Kiyoji: 12 articles (09/2015 - 07/2002)|
|3.||Egly, Jean-Marc: 10 articles (02/2015 - 07/2004)|
|4.||Sarasin, Alain: 9 articles (06/2015 - 09/2002)|
|5.||Stevnsner, Tinna: 9 articles (01/2014 - 12/2002)|
|6.||Berneburg, M: 8 articles (12/2012 - 01/2000)|
|7.||Vermeulen, Wim: 7 articles (11/2014 - 09/2002)|
|8.||Hoeijmakers, Jan H J: 7 articles (11/2014 - 07/2004)|
|9.||Wilson, David M: 7 articles (11/2014 - 01/2007)|
|10.||Kraemer, Kenneth H: 7 articles (07/2013 - 06/2002)|
03/01/2012 - "The location and extent of a region of abnormal signal hyperintensity may be helpful for identifying rare diseases such as an ectopic posterior pituitary gland near the floor of the third ventricle, bilateral involvement of the dentate and lentiform nuclei in Cockayne syndrome, and involvement of the anterior temporal lobe and cerebellum in neurocutaneous melanosis. "
|2.||Proteins (Proteins, Gene)IBA
10/23/1998 - "Genetic studies indicate that this transcription-coupled repair is dependent on the Cockayne syndrome group A and B proteins, as well as TFIIH subunits. "
06/01/2015 - "In an autopsy of a 23-year-old woman with Cockayne syndrome, we evaluated the correlation between Cockayne pathology and the expression patterns of the senescence-associated proteins p53 and Rb. "
11/04/2014 - "Cockayne syndrome (CS) is an accelerated aging disorder characterized by progressive neurodegeneration caused by mutations in genes encoding the DNA repair proteins CS group A or B (CSA or CSB). "
05/01/2013 - "Multiple interaction partners for Cockayne syndrome proteins: implications for genome and transcriptome maintenance."
10/12/2012 - "Two Cockayne syndrome (CS) complementation group proteins, CSA and CSB, are important for TCR repair. "
07/01/2013 - "Eighty-three patients had XP, 3 patients had XP/Cockayne syndrome complex, and 1 patient had XP/trichothiodystrophy complex. "
12/01/2006 - "Two related segmental progerias, Cockayne syndrome (CS) and trichothiodystrophy (TTD), don't fit this pattern. "
07/01/2002 - "Mutations in the XPD gene (XPD) can exhibit three distinct clinical phenotypes: XP, trichothiodystrophy (TTD), or XP combined with Cockayne syndrome. "
02/01/1999 - "Two other diseases, Cockayne syndrome (CS) and the photosensitive form of trichothiodystrophy (TTD), are linked to a defect in the NER pathway. "
01/01/1998 - "These results establish the essential function of the XPD protein in mammals and in cellular viability and are consistent with the notion that only subtle XPD mutations are found in XP, XP/Cockayne syndrome, and trichothiodystrophy patients."
|4.||DNA (Deoxyribonucleic Acid)IBA
05/12/2015 - "Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation."
01/01/2014 - "Cockayne syndrome: varied requirement of transcription-coupled nucleotide excision repair for the removal of three structurally different adducts from transcribed DNA."
04/01/2011 - "Defective resolution of pH2AX foci and enhanced DNA breakage in ionizing radiation-treated cockayne syndrome B cells."
03/01/2011 - "Like oxoguanine glycosylase 1 (OGG1), the Cockayne syndrome B (CSB) protein is involved in the repair of oxidatively damaged DNA, although its function is unclear. "
04/01/2009 - "Furthermore, transcription coupled repair-deficient Cockayne syndrome cells are not hypersensitive to UVA/6-TG, indicating that potentially lethal photoproducts are not selectively excised from transcribed DNA. "
|5.||Staphylococcal Protein A (A, Protein)IBA
10/12/2012 - "KIAA1530 protein is recruited by Cockayne syndrome complementation group protein A (CSA) to participate in transcription-coupled repair (TCR)."
01/01/2012 - "Cockayne syndrome protein A is one of the main components in mammalian transcription coupled repair. "
09/16/2011 - "DDB2 and the Cockayne-syndrome A protein (CSA) function in nucleotide excision repair, whereas the remaining receptors operate in a wide range of other biological pathways. "
11/01/2008 - "To determine the mechanism by which miR-521 modulates radiation sensitivity we measured the expression levels of one of its predicted target protein, Cockayne syndrome protein A (CSA). "
04/01/2013 - "In the present study we show that a number of cancer cell lines from different tissues display dramatically increased expression of the Cockayne Syndrome group B (CSB) protein, a DNA repair factor, that has recently been shown to be involved in cell robustness. "
01/01/1986 - "Transient expression of a plasmid gene, a tool to study DNA repair in human cells: defect of DNA repair in Cockayne syndrome; one thymine cyclobutane dimer is sufficient to block transcription."
09/01/2011 - "Cockayne syndrome B but not hOGG1 is also required for efficient repair of cyclobutane pyrimidine dimers. "
01/15/1999 - "To discriminate between both possibilities, we analyzed repair of UV-induced cyclobutane pyrimidine dimers at single base resolution in yeast cells lacking RAD26, the homolog of the Cockayne syndrome B gene. "
06/01/1990 - "Cells from patients with Cockayne syndrome (CS) are hypersensitive to UV-irradiation but have an apparently normal ability to remove pyrimidine dimers from the genome overall. "
05/25/1998 - "The known nucleotide excision repair (NER) defects of xeroderma pigmentosum (XP) and Cockayne syndrome (CS) cells can be exploited to analyze mechanisms of repair of UV-induced cyclobutane pyrimidine dimers (CPDs) at nucleotide (nt.) resolution. "
06/11/2010 - "A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair."
11/01/2007 - "Recent data obtained by expression-profiling studies and studies of progeroid syndromes (e.g., Hutchinson-Gilford progeria, Werner syndrome, Rothmund-Thomson syndrome, Cockayne syndrome, ataxia teleangiectasia, and Down syndrome) illustrate that among the most important biological processes involved in skin aging are alterations in DNA repair and stability, mitochondrial function, cell cycle and apoptosis, ubiquitin-induced proteolysis, and cellular metabolism. "
06/11/2010 - "In this issue of Molecular Cell, Anindya et al. (2010) show that the proteins assemble at the site of DNA damage but cannot begin repair until the Cockayne syndrome group B protein (CSB) binds ubiquitin."
06/11/2010 - "Ubiquitin recognition by the Cockayne syndrome group B protein: binding will set you free."
06/01/2006 - "CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome."
09/01/2001 - "Studies on p53 and Bax protein expression in Cockayne syndrome cells after UV irradiation and interferon-beta treatment."
01/01/1999 - "Enhancement of XPG mRNA transcription by human interferon-beta in Cockayne syndrome cells with complementation group B."
07/01/1998 - "Enhancement of XPG mRNA expression by human interferon-beta in Cockayne syndrome cells."
10/25/1996 - "Involvement of antipain-sensitive protease activity in the interferon-beta-induced UV-refractoriness of Cockayne syndrome fibroblasts."
|9.||DNA-Formamidopyrimidine Glycosylase (Formamidopyrimidine DNA Glycosylase)IBA
06/15/2007 - "Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by Escherichia coli formamidopyrimidine DNA glycosylase."
03/01/2010 - "Defective repair of 5-hydroxy-2'-deoxycytidine in Cockayne syndrome cells and its complementation by Escherichia coli formamidopyrimidine DNA glycosylase and endonuclease III."
01/01/2008 - "To conceive new therapeutic strategies for this syndrome, we are investigating whether the oxidatively damaged DNA repair defect in Cockayne syndrome might be complemented by heterologous repair proteins, such as the Escherichia coli formamidopyrimidine-DNA glycosylase and endonuclease III. The complementation studies may shed light on the important lesions for the Cockayne syndrome phenotype and offer new tools for future therapies aimed at counteracting the consequences of oxidatively damaged DNA accumulation."
|10.||Hydrogen Peroxide (Hydroperoxide)FDA LinkGeneric
01/01/2010 - "To study the involvement of XPB in repair of oxidative DNA damage, we utilized primary fibroblasts from a patient suffering from XP with Cockayne syndrome and hydrogen peroxide (H(2)O(2)) to induce oxidative stress. "
01/05/2006 - "Consistent with our model, we show that Cockayne syndrome cells from complementation groups A and B (CS-A, CS-B) are more sensitive to treatment with hydrogen peroxide than wild type or UV(S)S cells. "
01/01/2010 - "Therefore we sought to investigate the role of NER factors Xeroderma Pigmentosum A (XPA), XPB and XPD in oxidative DNA damage-repair by subjecting lymphoblastoid cells from patients suffering from XP-A, XP-D and XP-B with Cockayne Syndrome to hydrogen peroxide (H2O2). "
|1.||Drug Therapy (Chemotherapy)
01/01/2014 - "Additionally, Ad-NDRG2 combined with rAd-p53 enhanced the apoptosis of Huh7 cells (mutant p53) after chemotherapy, and the expression of the ERCC6 gene (Cockayne syndrome group B protein gene) was suppressed in this process. "
08/01/2008 - "Gait difficulties, tremors, and coordination difficulties are common features of Cockayne syndrome that are consequences of leukodystrophy, cerebellar atrophy, and demyelinating neuropathy, but no pharmacotherapy for these disabling symptoms is available. "
|3.||Deep Brain Stimulation
05/01/2007 - "To the best of our knowledge, we present the first case reports with documented follow-up of cochlear implantation in two patients with different manifestations of Cockayne syndrome."
05/01/2007 - "Cochlear implantation in Cockayne syndrome: our experience of two cases with different outcomes."