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Cockayne Syndrome:     more detail

Molecular Mechanisms of Cockayne Syndrome Cockayne Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20 Cockayne syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Suzanne, MS, CGC Carter, 2005 Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts [An article from: DNA Repair] by G. Spivak, P.C. Hanawalt, Epidermolysis bullosa simplex: localized (Weber-Cockayne type).(Clinical Snapshot): An article from: Dermatology Nursing by Kate de Banter, 2004-12-01 ACCELERATED AGING: HUMAN PROGEROID SYNDROMES: An entry from Macmillan Reference USA's <i>Encyclopedia of Aging</i> by DAVID K. ORREN, 2002 Cockayne syndrome Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg [An article from: DNA Repair] by N. Shiomi, M. Mori, et all 2005-03-02 New insights for understanding the transcription-coupled repair pathway [An article from: DNA Repair] by A. Sarasin, A. Stary, 2007-02-04 An integrated mechanistic model for transcription-coupled nucleotide excision repair [An article from: DNA Repair] by S. Patel, K.V. Venkatesh, et all 2004-03-04 The yeast rDNA locus: A model system to study DNA repair in chromatin [An article from: DNA Repair] by A. Conconi, Mending human genes: A job for a lifetime [An article from: DNA Repair] by J.E. Cleaver, 2005-05-02 Repair of DNA lesions in chromosomal DNA [An article from: DNA Repair] by M. Fousteri, A. van Hoffen, et all Repair characteristics and differentiation propensity of long-term cultures of epidermal keratinocytes derived from normal and NER-deficient mice [An article from: DNA Repair] by C. Backendorf, J. de Wit, et all

lists with details

41. Kprones CockayneID10015
    The ATPase domain but not the acidic region of cockayne syndrome groupe B gene product is Rare case of cockayne syndrome with xeroderma pigmentosum.  
    http://www.infobiogen.fr/services/chromcancer/Kprones/CockayneID10015.html
    
    Extractions: Home Genes Leukemias Solid Tumours ... NA Identity Inheritance Autosomal recessive Clinics Phenotype and clinics normal newborn; growth failure from the age of six months; diagnosis from the age of two years on : senile appearance of the skin (pigmentation, atrophy) with "mickey mouse" aspect (microcephaly, large ears, large nose, deep set eyes). "senil dwarf" aspect in contrast with long limbs, large hands and feet, cold fingers with cyanosis, flexion contractures of joints sensitivity to sunligth severe encephalopathia with profond mental retardation and sensory disorders (deafness, optic atrophy) pigmentary retinitis leading to cecity other disorders: hypertension, early atherosclerosis, intracranial calcification, glomerulosclerosis. Neoplastic risk no increased susceptibility to skin tumors and other cancers, except for Cockayne syndrome expressing xeroderma pigmentosum (XP) symptoms (association with XPG, XPD or XPB group) Evolution clinical heterogeneity, but early death from cachexia and dementia, early cutaneous tumors and atherosclerosis.

42. Gene CSAID301
    Prenatal diagnosis of xeroderma pigmentosum and cockayne syndrome. Reduced RNA polymerase II transcription in extracts of cockayne syndrome and  
    http://www.infobiogen.fr/services/chromcancer/Genes/CSAID301.html
    
    Extractions: Home Genes Leukemias Solid Tumours ... Nucleotide Excision Repair Other names CSA (Cockayne syndrome A) Hugo Location CSA (5) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics . Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it DNA/RNA Transcription 2011 b Protein Description 396 amino acids - 44 kDa Function The Cockayne syndrome group A (CSA) gene encodes a WD repeat protein that interacts with the Cockayne syndrome group B ( CSB ) protein and a subunit of RNA polymerase II transcription factor TFIIH suggesting that the products of CSA and CSB genes are involved in transcription. The CSA defect leads to defective strand specific repair of transcriptionally active genes. Mutations Germinal one base substitution Implicated in Entity Cockayne syndrome, CS group A Disease The Cockayne syndrome A is characterized by sensitivity to sunlight, dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy and deafness. External links Nomenclature Hugo GDB excision repair cross-complementing rodent repair deficiency, complementation group 8

43. Cockayne Syndrome - HUM-MOLGEN
    Author, Topic cockayne syndrome. Administrator Administrator, posted 1002-2001 0318 PM Click Here to See the Profile for Administrator Edit/Delete  
    http://hum-molgen.org/bb/Forum2/HTML/000094.html

44. The Many Faces Of Cockayne Syndrome -- Spivak 101 (43): 15273 -- Proceedings Of
    One such rare autosomal disease, cockayne syndrome (CS), can be caused by mutations From The Cover Complete absence of cockayne syndrome group B gene  
    http://www.pnas.org/cgi/content/extract/101/43/15273
    
    Extractions: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Companion article to this Commentary Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: The many faces of Cockayne syndrome Graciela Spivak Department of Biological Sciences, Stanford University, Stanford, CA 94305-5020 The challenges intrinsic to the maintenance of genetic information are revealed when one surveys the growing list of human disorders caused by defects in the repair of damage to DNA. Although these diseases are extremely rare, their effects are often devastating for patients and their families. One such rare autosomal disease, Cockayne syndrome (CS), can be caused by mutations in two genes, and , located on chromosomes 5 and 10, respectively. There are two complementation

45. The Many Faces Of Cockayne Syndrome -- Spivak 101 (43): 15273 -- Proceedings Of
    One such rare autosomal disease, cockayne syndrome (CS), can be caused by A workshop entitled cockayne syndrome and Related Disorders of DNA Repair and  
    http://www.pnas.org/cgi/content/full/101/43/15273
    
    Extractions: This Article Extract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Companion article to this Commentary Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: The many faces of Cockayne syndrome Graciela Spivak Department of Biological Sciences, Stanford University, Stanford, CA 94305-5020 The challenges intrinsic to the maintenance of genetic information are revealed when one surveys the growing list of human disorders caused by defects in the repair of damage to DNA. Although these diseases are extremely rare, their effects are often devastating for patients and their families. One such rare autosomal disease, Cockayne syndrome (CS), can be caused by mutations in two genes, and , located on chromosomes 5 and 10, respectively. There are two complementation

46. Short Description Of Cell Lines. Pathology: Cockayne Syndrome #216400
    Pathology cockayne syndrome 216400 OMIM record. By selecting the cell line name, you will receive the detailed description of the cell line  
    http://www.biotech.ist.unige.it/cldb/pat19.html

47. Penn State Faculty Research Expertise Database (FRED)
    cockayne syndrome may be divided into two or more distinct genetic subtypes. cockayne syndrome, Group B, cockayne syndrome, Group C. cockayne syndrome  
    http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D003057

48. Project: Unraveling The Cockayne Syndrome B Protein Mechanism Of Action, At The
    The cockayne syndrome B (CSB) protein plays an essential role in TCR. However, the mechanism by which CSB mediates TCR is unknown.  
    http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1307633/toon
    
    Extractions: Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Print View Titel Ophelderen van het werkingsmechanisme van het Cockayne syndroom B eiwit, op de kruising tussen gentranscriptie, DNA herstel en hermodellering van het nucleosoom Abstract Period Related organisations

49. National Cancer Institute - Dictionary Of Cancer Terms
    cockayne syndrome. A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.  
    http://www.cancer.gov/Templates/db_alpha.aspx?CdrID=45491

50. Cockayne Syndrome
    Cockayne( s) Syndrome. Cockayne´s Syndrome (Includes Photo); cockayne syndrome cockayne syndrome ExcisionRepair Cross-Complementing Rodent Repair  
    http://www.bdid.com/cockayne.htm

51. Cockayne Syndrome
    cockayne syndrome. Progerialike syndrome. cockayne syndrome With Tetralogy of Fallot cockayne syndrome With Tetralogy of Fallot cockayne syndrome With  
    http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=70

52. Cockayne Syndrome (a Case Report). Joshi RM, Kallapur SG, Gandhi RK, Ketkar DR,
    J Postgrad Med, Online version this peerreviewed periodical, a publication of the Staff Society of Seth GS Medical College and KEM Hospital, India,  
    http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1987;volume=33;issue=1

53. Cockayne Syndrome And Xeroderma Pigmentosum.
    OBJECTIVES To review genetic variants of cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders of DNA repair that affect the  
    http://www.arclab.org/medlineupdates/abstract_11185579.html
    
    Extractions: Aging Research Center Home Page All Previous Aging Related Articles On-line Medical Dictionary National Library of Medicine's PubMed directory of MEDLINE citations. - Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH Neurology 2000 Nov 28;55(10):1442-9. OBJECTIVES: To review genetic variants of Cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders of DNA repair that affect the nervous system, and to illustrate them by the first case of xeroderma pigmentosum-Cockayne syndrome (XP-CS) complex to undergo neuropathologic examination. METHODS: Published reports of clinical, pathologic, and molecular studies of CS, XP neurologic disease, and the XP-CS complex were reviewed, and a ninth case of XP-CS is summarized. RESULTS: CS is a multisystem disorder that causes both profound growth failure of the soma and brain and progressive cachexia, retinal, cochlear, and neurologic degeneration, with a leukodystrophy and demyelinating neuropathy without an increase in cancer.

54. Xeroderma Pigmentosum And Cockayne Syndrome: Overlapping Clinical And Biochemica
    Xeroderma pigmentosum and cockayne syndrome overlapping clinical and biochemical phenotypes. Greenhaw GA, Hebert A, Duke-Woodside ME, Butler IJ,  
    http://www.arclab.org/medlineupdates/abstract_1372469.html
    
    Extractions: Aging Research Center Home Page All Previous Aging Related Articles On-line Medical Dictionary National Library of Medicine's PubMed directory of MEDLINE citations. - Greenhaw GA, Hebert A, Duke-Woodside ME, Butler IJ, Hecht JT, Cleaver JE, Thomas GH, Horton WA Am J Hum Genet 1992 Apr;50(4):677-89. Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative DNA replication defect indicative of XP variant was found. Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a

55. ERCC8 - Cockayne Syndrome WD-repeat Protein CSA
    One predicted protein has similarity to the human cockayne syndrome protein Mutations in the cockayne syndrome genes (the CSA and CSB genes acting for  
    http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/87224.html
    
    Extractions: Strikingly, inactivation of one Xpc allele (encoding a component of the damage recognition complex involved in the global genome repair sub-pathway) in Csa -/- mice resulted in a strongly enhanced UV-mediated skin cancer sensitivity, indicating that in a TC repair defective background, the Xpc gene product may be a rate-limiting factor in the removal of UV-induced DNA lesions. Abstract-9325612

56. Chin Med J (Taipei) 1997;59:199-203. (Cockayne Syndrome With Tetralogy Of Fallot
    cockayne syndrome With Tetralogy of Fallot A Case Report cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth  
    http://www.vghtpe.gov.tw/~cmj/5903/590310.htm
    
    Extractions: Next Prev Abs Chi ... Home Chin Med J (Taipei) 1997;59:199-203. Cockayne Syndrome With Tetralogy of Fallot: A Case Report Choun-Seng Choong , Kiew-Lian Liew , Yung-Feng Huang , Pao-Ching Chiu , Kai-Sheng Hsieh Department of Pediatrics, Jen-Ai General Hospital, Pingtung, and Department of Pediatrics, Veterans General Hospital Kaoshiung, Taiwan, R.O.C. Abstract Cockayne syndrome (CS) is a rare auto-somal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities. This is a description of a three-year-old boy with typical features of Cockayne syndrome complicated with tetralogy of Fallot, pneumonia and hepato-splenomegaly. He had been suffering from frequent attacks of pneumonia and had been hospitalized for several times since birth. Tetralogy of Fallot was diagnosed under echocardiography study and he died suddenly in hospital during a mydriatic procedure in the Ophthalmologic Clinic. [Chin Med J (Taipei) 1997;59:199-203.]

57. Chin Med J (Taipei) 1997;59:199-203. (Abstract) (Cockayne Syndrome With Tetralog
    cockayne syndrome With Tetralogy of Fallot A Case Report cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth  
    http://www.vghtpe.gov.tw/~cmj/5903/590310ab.htm
    
    Extractions: Next Prev Full Chi ... Home Chin Med J (Taipei) 1997;59:199-203. Cockayne Syndrome With Tetralogy of Fallot: A Case Report Choun-Seng Choong , Kiew-Lian Liew , Yung-Feng Huang , Pao-Ching Chiu , Kai-Sheng Hsieh Department of Pediatrics, Jen-Ai General Hospital, Pingtung, and Department of Pediatrics, Veterans General Hospital Kaohsiung, Taiwan, R.O.C. Abstract Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities. This is a description of a three-year-old boy with typical features of Cockayne syndrome complicated with tetralogy of Fallot, pneumonia and hepatosplenomegaly. He had been suffering from frequent attacks of pneumonia and had been hospitalized for several times since birth. Tetralogy of Fallot was diagnosed under echocardiography study and he died suddenly in hospital during a mydriatic procedure in the Ophthalmologic Clinic. [Chin Med J (Taipei) 1997;59:199-203.]

58. Cockayne Syndrome
    Thanking you Sincerely Jim. Rating. Replies. cockaynesyndrome (Jim 12 Jul. 2005 0444). RE cockayne-syndrome (Shirley Rodriguez’ 12 Jul. 2005 1545)  
    http://www.forumromanum.de/member/forum/forum.php?action=std_show&entryid=109177

59. Cockayne Syndrome
    shirley rodriguez. Rating. Replies. cockaynesyndrome (Jim 12 Jul. 2005 0444). RE cockayne-syndrome (Shirley Rodriguez’ 12 Jul. 2005 1545)  
    http://www.forumromanum.de/member/forum/forum.php?action=std_show&entryid=109177

60. Atlas Of Ophthalmology SEARCH HOME SEARCH EDITORS IMPRINT
    cockayne syndrome (Orthochromatic Leukodystrophy). cockayne syndrome ( 1,1), (Orthochromatic Leukodystrophy) cockayne syndrome ( 1,1),  
    http://www.atlasophthalmology.com/bin/atlas?id=115343470-1307141&nav=3896

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