61. Life Sciences Division - Cell & Molecular Biology - Cooper Lab base damage in active DNA through base excision repair (BER) and has tied defectsin this process to the devastating developmental disorder cockayne syndrome. http://www.lbl.gov/lifesciences/labs/cooper_lab.html

PRINCIPAL SCIENTIST Cooper, P SCIENTISTS Firestone, G Martin,S Pinkel, D Tsuruta, H Tsutakawa,Susan Werb, Z POSTDOCTORAL FELLOWS Campeau, E Chernikova, S Fuss, J Haltiwanger, B Kalogeraki, V Perry, J Pluth, J Sarker, A RESEARCH ASSOCIATES Cooper, B Ison, M Kwoh, E Ng, C STUDENTS Oser, M Sallam, D STAFF Staff Names Coming Soon DNA damage from environmental sources as well as from the cellular metabolism itself threatens the integrity of the genome if not detected and removed. Studies in the Cooper laboratory are directed toward understanding the biochemical and molecular basis for the processing of damaged DNA and the genetic control of these repair processes in mammalian cells. Priscilla K. Cooper Senior Staff Scientist/ Life Sciences Division One Cyclotron Rd.

62. Ataxia: DNA Repair Defects cockayne syndrome A l Chromosome 5; Recessive Neurological FeaturesProgressive mental deterioration; Lateonset cockayne syndrome. http://www.neuro.wustl.edu/neuromuscular/ataxia/dnarep.html

Front Search Index Links ... Patient Info ATAXIA: DNA REPAIR DEFECTS Ataxia Telangectasia Ataxia Telangectasia-like Ataxia with neuropathy Cockayne Syndrome A ... Xeroderma Pigmentosum From Dr. A Kornberg Ataxia Telangectasia Ataxia Telangectasia l AT Mutant (ATM) gene ; Chromosome 11q22-q23 ATM gene mutations Location: All over ATM gene; No hot spots 40% to 50% of mutations produce spilicing abnormalities Missense mutations found in T-cell prolymphocytic leukaemia In kinase domain Predicted to interfere with ATP binding or substrate recognition. Most patients are compound heterozygotes External link: Database ATM protein High molecular weight Expression: Constitutive; High in fibroblasats Cell location: Predominantly in nuclei Homologous to phosphatidylinositol-3'-kinases ATM contains intrinsic protein kinase activity Phosphorylation of p53 on serine 15 in a manganese-dependent manner BRCA protein in response to g -irradiation Activity Increased by radiomimetic drug or exposure to ionizing radiation No effect of ultraviolet radiation Roles: Mitogenic signal transduction; Meiotic recombination; Cell cycle control

63. CancerGene ERCC5 Name, excision repair crosscomplementing rodent repair deficiency, complementationgroup 5 (xeroderma pigmentosum complementation group G (cockayne syndrome)). http://caroll.vjf.cnrs.fr/cancergene/CG944.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol Aliases XPGC; ERCM2; XPG Name excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum complementation group G (Cockayne syndrome)) Locus OMIM GDB SwissProt LocusLink Atlas of Genetics and Cytogenetics in Oncology and Haematology : XPG Class CARETAKER; REPAIR Keywords nucleotide excision repair (NER) Diseases Cockayne Syndrome; Xeroderma Pigmentosum (G) Note see related XPG ( CG:943 Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : Lee SK;Yu SL;Prakash L;Prakash S Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. implications for Cockayne syndrome. Cell 2002 Jun 28;109(7):823-34. Volker M;Mone MJ;Karmakar P;van Hoffen A;Schul W;Vermeulen W;Hoeijmakers JH;van Driel R;van Zeeland AA;Mullenders LH Sequential assembly of the nucleotide excision repair factors in vivo. Mol Cell 2001 Jul;8(1):213-24.

64. CancerGene ERCC6 Diseases, cockayne syndrome; Dwarfism; Neurodegenerative Diseases;Photosensitivity Disorders. implications for cockayne syndrome. http://caroll.vjf.cnrs.fr/cancergene/CG945.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol Aliases CSB Name excision repair cross-complementing rodent repair deficiency, complementation group 6; Rad26 (yeast) homolog Locus OMIM GDB SwissProt LocusLink Atlas of Genetics and Cytogenetics in Oncology and Haematology : CSB Class REPAIR Keywords transcription-coupled repair (TCR) Diseases Cockayne Syndrome; Dwarfism; Neurodegenerative Diseases; Photosensitivity Disorders Note COCKAYNE SYNDROME, TYPE B, INCLUDED; CSB, INCLUDED ( OMIM:133540 See also OMIM:216400 COCKAYNE SYNDROME, TYPE I; CKN1 (COCKAYNE SYNDROME, TYPE A; CSA). Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : Lee SK;Yu SL;Prakash L;Prakash S Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. implications for Cockayne syndrome. Cell 2002 Jun 28;109(7):823-34. Yu A;Fan HY;Liao D;Bailey AD;Weiner AM Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes. Mol Cell 2000 May;5(5):801-10

65. The Contact A Family Directory - COCKAYNE SYNDROME printer friendly, cockayne syndrome, This has lead to the recognition that incockayne syndrome ultra violet (UV) light can cause damage to the DNA. http://www.cafamily.org.uk/Direct/c39.html

printer friendly COCKAYNE SYNDROME home more about us in your area conditions information ... how you can help search this site This syndrome was described in 1936. In its classical form it presents with premature ageing and neurological deterioration. The facial features show progressive ageing with thinning of the skin, deep sunken eyes, hair loss and dental decay. There may be loss of motor and intellectual skills with changes in the white matter of brain (leukodystrophy) on an MRI brain scan. Deafness and visual problems due to retinitis pigmentosa will develop. The bones show thinning and the back becomes curved and there will be joint contractures. The age of the onset of symptoms and the progression of the disease is variable. The early onset cases overlap with COFS (Cerebro-Oculo-Facio-Skeletal) syndrome. One of the hallmarks of the syndrome is sensitivity to the sun leading to blistering and excessive reddening of the skin. This has lead to the recognition that in Cockayne Syndrome ultra violet (UV) light can cause damage to the DNA. In fact, the underlying cause is known to be a defect in the enzymes that repair DNA after UV damage. There are several different enzymes involved and the diagnosis of the specific enzyme depends on cellular studies carried out from the cells grown from a skin biopsy (fibroblasts). This is carried out in highly specialised laboratories. The sun sensitivity can be reduced by avoiding exposure to UV light and the use of sun block creams. However, there is no treatment for the progressive neurological degeneration.

66. GeneCards Disorder Information: Cockayne Syndrome-1 GeneCards Disorder Information cockayne syndrome1 Search different databasescontaining disease information by clicking on the buttons below. http://www.rzpd.de/cgi-bin/cards/disodisp?Cockayne syndrome-1

67. GeneCards Disorder Information: Cockayne Syndrome-2 Type B GeneCards Disorder Information cockayne syndrome2 type b Search different databasescontaining disease information by clicking on the buttons below. http://www.rzpd.de/cgi-bin/cards/disodisp?Cockayne syndrome-2 type B

68. Orthoguide.com Cockayne Syndrome Search results for cockayne syndrome . NO MATCHES FOUNDPlease select a differentkeyword or category OR Search AltaVista for 'cockayne syndrome'. http://www.orthoguide.com/ortho/Cockayne_Syndrome.php3

Search results for "Cockayne Syndrome" NO MATCHES FOUND-Please select a different keyword or category OR Search AltaVista for 'Cockayne Syndrome' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

69. Bio © ICSU Press 1996 pp. 731­738 BIO986. cockayne syndrome ­ a primary defectin DNA repair, transcription, both or neither? Errol C. Friedberg. Summary. http://www.bioessays.demon.co.uk/1996/bio986.htm

Errol C. Friedberg Summary Cockayne syndrome is a rare autosomal recessive disease characterized by a complex clinical phenotype. Most Cockayne syndrome cells are hypersensitive to killing by ultraviolet radiation. This observation has prompted a wealth of studies on the DNA repair capacity of Cockayne syndrome cells in vitro . Many studies support the notion that such cells are defective in a DNA repair mode(s) that is transcription-dependent. However, it remains to be established that this is a primary molecular defect in Cockayne syndrome cells and that it explains the complex clinical phenotype associated with the disease. An alternative hypothesis is that Cockayne syndrome cells have a defect in transcription affecting the expression of certain genes, which is compatible with embryogenesis but not with normal post-natal development. Defective transcription may impair the normal processing of DNA damage during transcription-dependent repair. Go to next abstract Return to contents

70. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Examination of Clinical and Laboratory Abnormalities in Patients with DefectiveDNA Repair Xeroderma Pigmentosum, cockayne syndrome, or Trichothiodystrophy. http://www.clinicaltrials.gov/ct/gui/show/NCT00001813?order=5

71. 1677: Original COFS Syndrome Manitoba Aboriginal Kindred Has A Mutation In The C Program Nr 1677 Original COFS syndrome Manitoba aboriginal kindred has amutation in the cockayne syndrome group B (CSB) gene. JM Graham, Jr. http://www.faseb.org/genetics/ashg99/f1677.htm

Program Nr: 1677 Original COFS syndrome Manitoba aboriginal kindred has a mutation in the Cockayne syndrome group B (CSB) gene. J.M. Graham, Jr. , L.B. Meira , C.R. Greenberg , N.G.J. Jaspers , D. Busch , D.M. Coleman , D.W. Ziffer , E.C. Friedberg

72. Family Forum At The International Family Institute Discussions Refresh Back to Main Forum Listings Start a new Discussion. CockayneSyndrome, Author, Posted On. cockayne syndrome (Best Practices), Jackie Feldman. http://www.discoveryifi.org/forum/index.cfm?Action=Topic&TopicID=149

73. Clinical Study: 99-C-0099, Examination Of Clinical And Laboratory Abnormalities Examination of Clinical and Laboratory Abnormalities in Patients with DefectiveDNA Repair Xeroderma Pigmentosum, cockayne syndrome, or Trichothiodystrophy http://clinicalstudies.info.nih.gov/detail/A_99-C-0099.html

Protocol Number: 99-C-0099 Title: Examination of Clinical and Laboratory Abnormalities in Patients with Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Number: 99-C-0099 Summary: Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue (skin, blood, hair, buccal swabs) for laboratory examination of DNA repair and for genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair. Patients will be offered counseling and education for cancer control. Sponsoring Institute: National Cancer Institute (NCI) Recruitment Detail Type: Active Accrual Of New Subjects Gender: Referral Letter Required: No Population Exclusion(s): None Eligibility Criteria: INCLUSION CRITERIA: Patients with XP, XP/CS, CS, or TTD will be sought by collaborators in Israel.

74. Annual Report On The Rare Diseases And Conditions Research Activities Of The Nat Of particular interest are progeroid syndromes such as Werner syndrome,cockayne syndrome, and HutchinsonGilford progeria. cockayne syndrome. http://rarediseases.info.nih.gov/news-reports/FY97annual/NIA.htm

Office of Rare Diseases Annual Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health National Institute on Aging (NIA) Overview of Rare Disease Research Activities The National Institute on Aging conducts and supports biomedical, social and behavioral research, training, health information dissemination, and other programs with respect to the aging process. The Institute does not focus on rare diseases per se , however, certain rare conditions/diseases are studied as they relate to the process of aging or the diseases of aging. Of particular interest are progeroid syndromes such as Werner syndrome, Cockayne syndrome, and Hutchinson-Gilford progeria. Recent Scientific Advances in Rare Disease Research Molecular Basis of Werner Syndrome Werner syndrome is an inherited recessive disease that has been termed a progeroid syndrome because it prematurely manifests many clinical symptoms resembling aging. The gene for this disorder (WRN) was recently shown to code for a recQ class helicase. The yeast homolog of this gene, , also shares significant homology with BLM , the gene whose defect is responsible for Bloom syndrome. Deletion of the

75. Report On The Rare Diseases And Conditions Research Activities Of The NIH 1998 - Of particular interest are progeroid syndromes such as Werner's syndrome, Bloom'ssyndrome, cockayne syndrome and HutchinsonGilford progeria and prion http://rarediseases.info.nih.gov/news-reports/fy98annual/nia.html

Office of Rare Diseases Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health 1998 National Institute on Aging (NIA) OVERVIEW OF RARE DISEASES RESEARCH ACTIVITIES The National Institute on Aging conducts and supports biomedical, social and behavioral research, training, health information dissemination, and other programs with respect to the aging process. The Institute does not focus on rare diseases per se, however, certain rare conditions/diseases are studied as they relate to the process of aging or the diseases of aging. Of particular interest are progeroid syndromes such as Werner's syndrome, Bloom's syndrome, Cockayne syndrome and Hutchinson-Gilford progeria and prion diseases that have implications for age-related dementia. RECENT SCIENTIFIC ADVANCES IN RARE DISEASES RESEARCH Molecular Basis of Werner Syndrome Cockayne Syndrome . Cockayne syndrome (CS) is a human disorder associated with clinical features of premature aging, also called a segmental progeria. These individuals suffer from mental retardation, cachectic dwarfism, hypersensitivity to UV irradiation and other DNA damaging agents. There are two genetic complementation groups, groups A and B (CS-A and CS-B). In recent experiments, NIA intramural scientists have demonstrated that CS individuals have a deficiency in basal transcription in vivo. The CS-B gene sequence contains a helicase domain, but the gene does not appear to have helicase activity in vitro. It does, however, have ATPase activity. The CSB protein appears to have a number of significant protein interactions, and it is possible that it has separate critical function in DNA repair and in basal transcription.

76. DNA Repair IG: What Is DNA Repair? Patients with cockayne syndrome have sun sensitivity, short stature,and progressive neurologic degeneration. Unlike XP, Cockayne http://tango01.cit.nih.gov/sig/dna/dnawhatis.html

What is DNA Repair? Figure 1 -DNA Repair functions As a major defense against environmental damage to cells DNA repair is present in all organisms examined including bacteria, yeast, drosophila, fish, amphibians, rodents and humans. DNA repair is involved in processes that minimize cell killling, mutations, replication errors, persistence of DNA damage and genomic instability. Abnormalities in these processes have been implicated in cancer and aging (Figure 1). Figure 2 - Mammalian DNA Repair Systems There are several different repair pathways in mammalian cells (Figure 2): a) single step reactions, a direct reversal by a single enzyme like photolyase or O-6-methyl-DNA-alkyltransferase b) single and multi-step base excision mechanisms (i.e., glycosylases) and c) multi-step reactions with pleiotropic specificities from multiple protein components. An example of the single step reaction is the direct reversal that can be accomplished by the bacterial photolyase enzyme: a cyclobutane pyrimidine dimer is converted into two adjacent pyrimidines, and thereby the lesion is repaired. Another multi-step process is the one seen after mismatch formation, often a consequence of a replicative error. In E. coli, these mismatch bases are repaired by a set of enzymes, the MutS, MutL and MutH proteins. The MutS protein recognizes the lesion, and initiates the assembly of a repair complex containing all three proteins. The MutH protein incises at a GATC sequence in the unmethylated strand. Next, a MutS, MutL and MutU dependent excision step removes a section of DNA containing the GATC site and the mismatch. The resulting single stranded gap is filled in by DNA polymerase III. There is currently much interest in what the homologous pathway is in mammalian cells, and whether there is interaction between it and nucleotide excision.

77. Health Library - Cockayne Syndrome Topics. cockayne syndrome. Self Help Clearinghouse. Share and Care CockayneSyndrome Network. International network. Founded http://uhcs.universityhealth.org/library/healthguide/selfhelp/topic.asp?hwid=shc

78. Cockayne Syndrome, CSA, And CSB cockayne syndrome, CSA and CSB. Individuals with cockayne syndrome(CS) exhibit symptoms such as increased sensitivity to sunlight http://www.biochem.umd.edu/biochem/kahn/molmachines/TCR/csacsb.html

Cockayne syndrome, CSA and CSB Individuals with Cockayne syndrome (CS) exhibit symptoms such as increased sensitivity to sunlight, post-natal growth failure, neurological dysfunction, cataracts, pigmentary degeneration of the retina, and dental abnormalities. In spite of the increased sensitivity to sunlight, patients with CS do not exhibit an increased incidence of cancer. Patients typically die around the age of 12, although some survive into their teens or twenties (Nance and Berry, 1992). Cell lines isolated from CS patients exhibit a high sensitivity to killing by ultraviolet (UV) radiation (Schmickel et al ., 1977). Conventional measurements detect no deficiency in nucleotide excision repair (NER), the primary mode of repair of DNA lesions caused by UV radiation, in CS cells. However, in normal cells, the template strand of active genes is repaired faster than are inactive sequences. CS cells do not show this difference (van Hoffen et al. Two genetic complementation groups, CS-A and CS-B, have been defined (Tanaka et al ., 1981; Lehmann, 1982). In 1995, Henning

79. ERCC6 CM980622, 184, aCAGTAG, Gln-Term, cockayne syndrome, 1. CM920242, 337, gAAG-TAG,Lys-Term, cockayne syndrome, 2. CM980623, 453, cCGA-TGA, Arg-Term, cockayne syndrome,1. http://www.uwcm.ac.uk/uwcm/mg/ns/1/119882.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference aCAG-TAG Gln-Term Cockayne syndrome gAAG-TAG Lys-Term Cockayne syndrome cCGA-TGA Arg-Term Cockayne syndrome TGGc-TGA Trp-Term Cockayne syndrome tCGG-TGG Arg-Trp Cockayne syndrome aCGA-TGA Arg-Term Cockayne syndrome aTGG-AGG Trp-Arg Cockayne syndrome gCAG-TAG Gln-Term Cockayne syndrome gCGA-TGA Arg-Term Cockayne syndrome GTG-GGG Val-Gly Cockayne syndrome CCA-CTA Pro-Leu Cockayne syndrome CCT-CGT Pro-Arg Cockayne syndrome cAGA-GGA Arg-Gly Cockayne syndrome References 1 - Mallery (1998) Am J Hum Genet 2 - Troelstra (1992) Cell HGMD

80. Health Library - Cockayne Syndrome FREE. cockayne syndrome. Self Help Clearinghouse. Share and Care CockayneSyndrome Network. International network. Founded http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc

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