Cockayne Syndrome (Syndrome, Cockayne)

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207 relevant articles (0 outcomes, 7 trials/studies) found for this Disease

Description: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

Also Known As:

Syndrome, Cockayne; Progeria Like Syndrome; Cockayne Syndrome, Group A; Cockayne Syndrome, Group B; Cockayne Syndrome, Group C; Cockayne Syndrome, Type A; Cockayne Syndrome, Type B; Cockayne Syndrome, Type C; Cockayne Syndrome, Type I; Cockayne Syndrome, Type II; Cockayne Syndrome, Type III; Group A Cockayne Syndrome; Group B Cockayne Syndrome; Group C Cockayne Syndrome; Type A Cockayne Syndrome; Type B Cockayne Syndrome; Type C Cockayne Syndrome; Type I Cockayne Syndrome; Type II Cockayne Syndrome; Type III Cockayne Syndrome; Syndrome, Progeria-Like; Progeria-Like Syndrome

Disease Context: Research Results

Related Diseases

1.	Syndrome
2.	Xeroderma Pigmentosum (Kaposi's Disease)
3.	Progeria (Hutchinson Gilford Syndrome)
4.	Neoplasms (Cancer)
5.	Werner Syndrome (Werner's Syndrome)

Experts

1.	Bohr, Vilhelm A: 7 articles (01/2007 - 02/2002)
2.	Frosina, Guido: 3 articles (01/2008 - 06/2007)
3.	Tanaka, Kiyoji: 3 articles (04/2007 - 06/2006)
4.	Stevnsner, Tinna: 3 articles (01/2007 - 12/2002)
5.	Tuo, Jingsheng: 3 articles (04/2003 - 02/2002)
6.	Kuraoka, Isao: 2 articles (04/2007 - 06/2006)
7.	Indig, Fred E: 2 articles (01/2007 - 09/2005)
8.	Gorgels, Theo G M F: 2 articles (01/2007 - 12/2002)
9.	Imam, Syed Z: 2 articles (01/2007 - 01/2007)
10.	van der Horst, Gijsbertus T J: 2 articles (01/2007 - 12/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cockayne Syndrome:

1.	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" 08/01/2008 - "Cockayne syndrome A (CSA) and B (CSB) play essential roles in integrating the recognition of damage, chromatin remodeling, and the core nucleotide excision repair proteins" 01/01/2008 - "Oxidatively damaged DNA repair defect in cockayne syndrome and its complementation by heterologous repair proteins." 11/09/2007 - "Previously, Cockayne syndrome proteins and BRCA1 were implicated in the process" 02/04/2007 - "Because severe diseases, such as Cockayne syndrome, are associated with defects or mutations in proteins required for transcription-coupled nucleotide excision repair, complete understanding of this pathway should allow us to understand this disease better and eventually to propose adequate therapies." Order ALL the reference details at left...
2.	DNA (Deoxyribonucleic Acid)IBA 01/01/2008 - "Although the phenotypical consequences of defective repair of oxidatively damaged DNA in Cockayne syndrome are not determined, accumulation of oxidized lesions might contribute to delay the physical and intellectual development of these patients" 07/15/2007 - "The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome." 10/01/2006 - "CONCLUSION: Reliable prenatal diagnosis of the Cockayne syndrome can be made by the demonstration of a strongly reduced recovery of DNA-synthesis in UV-irradiated cultured chorionic villus cells or amniocytes" 11/28/2002 - "A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage." 12/01/2001 - "Cells from individuals with Cockayne syndrome (CS) have a defect in transcription-coupled DNA repair (TCR), which rapidly corrects certain DNA lesions located on the transcribed strand of active genes" Order ALL the reference details at left...
3.	Pyrimidine DimersIBA 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." 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" 11/01/1991 - "Evidence for defective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells." Order ALL the reference details at left...
4.	Interferon-betaIBA 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." Order ALL the reference details at left...
5.	UbiquitinIBA 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" 06/01/2006 - "CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome." 11/09/2007 - "Damage-induced ubiquitylation of human RNA polymerase II by the ubiquitin ligase Nedd4, but not Cockayne syndrome proteins or BRCA1." Order ALL the reference details at left...
6.	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." 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." Order ALL the reference details at left...
7.	bcl-2-Associated X Protein (bcl 2 Associated X Protein)IBA 09/01/2001 - "Studies on p53 and Bax protein expression in Cockayne syndrome cells after UV irradiation and interferon-beta treatment." Order ALL the reference details at left...
8.	Intercellular Adhesion Molecule-1 (Intercellular Adhesion Molecule 1)IBA 01/15/2000 - "In the first part of the current work, we have extended these studies and found several other examples, including XP-G and Cockayne syndrome cells, in which increased ICAM-1 inhibition correlated with cancer proneness" Order ALL the reference details at left...
9.	RNA Polymerase II (RNA Polymerase B)IBA 12/01/2006 - "Rad26, the yeast homologue of human Cockayne syndrome group B protein, and Rpb9, a nonessential subunit of RNA polymerase II, have been shown to mediate two subpathways of transcription-coupled DNA repair in yeast" 10/28/2005 - "Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome." 07/05/2004 - "The Cockayne syndrome B (CSB) protein is essential for transcription-coupled DNA repair (TCR), which is dependent on RNA polymerase II elongation" 01/15/1999 - "Rad26, the yeast homolog of the cockayne syndrome B gene product, counteracts inhibition of DNA repair due to RNA polymerase II transcription." 10/14/1997 - "Cockayne syndrome group B protein enhances elongation by RNA polymerase II." Order ALL the reference details at left...
10.	RNA (Ribonucleic Acid)IBA 10/21/2002 - "Detection of reduced RNA synthesis in UV-irradiated Cockayne syndrome group B cells using an isolated nuclear system." 01/01/1987 - "Cockayne syndrome with delayed recovery of RNA synthesis after ultraviolet irradiation but normal ultraviolet survival." 12/01/1982 - "After 16 Jm-2 of UV-irradiation non-dividing normal cells recover normal rates of RNA synthesis within 24 h, whereas in cells from donors with Cockayne syndrome (CS) the rate of RNA synthesis gradually declines" 04/01/1992 - "Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in Cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity" 02/01/2001 - "That UV sensitivity can be a consequence of mutations in the RNA Pol II machinery in yeast cells suggests that alterations in transcriptional programs could underlie some of the pathophysiological defects seen in the human disease Cockayne syndrome." Order ALL the reference details at left...

Therapies and Procedures

1.	Deep Brain Stimulation 01/01/2006 - "Deep brain stimulation to treat hyperkinetic symptoms of Cockayne syndrome." 01/01/2006 - "These results suggest that patients with Cockayne syndrome should be considered for deep brain stimulation to treat refractory movement disorders." Order ALL the reference details at left...
2.	Cochlear Implantation 05/01/2007 - "To the best of our knowledge, we present the first case report