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

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Cockayne syndrome 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

Atlas of Genetics and Cytogenetics in Oncology and Haematology 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

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Cockayne Syndrome profile register preferences faq ... next oldest topic Author Topic: Cockayne Syndrome Administrator Administrator posted 10-02-2001 03:18 PM Searching for some group doing the genetic diagnosis of Cockayne Sd. Dr Eugenia Monros Seccio Genetica Hospital Sant Joan de Deu Av. Sant Joan de Deu nº2 08950 Esplugues, Barcelona Spain Tel: +34 93 2532103 Fax: +34 93 2803626 e-mail: emonros@hsjdbcn.org IP: 160.45.10.9 mvanstee unregistered posted 10-08-2001 10:44 PM quote: Originally posted by Administrator: Searching for some group doing the genetic diagnosis of Cockayne Sd. Dr Eugenia Monros Seccio Genetica Hospital Sant Joan de Deu Av. Sant Joan de Deu nº2 08950 Esplugues, Barcelona Spain Tel: +34 93 2532103 Fax: +34 93 2803626 e-mail: emonros@hsjdbcn.org Contact Bootsma's group in Rotterdam (Erasmus University), they do this type of diagnosis. IP: 62.131.2.140 Gnovelli Member posted 07-23-2002 08:41 AM quote: Cockaine Diagnosis: [QUOTE]Originally posted by Administrator: [b]Searching for some group doing the genetic diagnosis of Cockayne Sd.

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

Published online before print October 19, 2004, 10.1073/pnas.0406894101 October 26, 2004 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: ISI Web of Science (1) PubMed PubMed Citation Articles by Spivak, G. COMMENTARY 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

Published online before print October 19, 2004, 10.1073/pnas.0406894101 October 26, 2004 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: ISI Web of Science (1) PubMed PubMed Citation Articles by Spivak, G. COMMENTARY 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

Version Short description of cell lines. Pathology: Cockayne syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast PVCGU human, Caucasian ... By Beatrice...

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

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Unraveling the Cockayne syndrome B protein mechanism of action, at the crossroad between gene transcription, DNA repair and nucleosome remodeling 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 Financier: NWO Council for Chemical Sciences Secretariat: Department of Radiotherapy (EUR) Related persons Project leader: Dr. N. Beerens Classification public health and health care biochemistry genetics Data supplier: Nederlandse Organisatie voor Wetenschappelijk Onderzoek (NWO) Back NOD page Last modified: 05-07-2005 00:00

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

HOME Cockayne('s) Syndrome (Includes Photo) Cockayne Syndrome Cockayne syndrome Excision-Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6; ERCC6 Cockayne syndrome Type I Cockayne Syndrome, Type I; CKN1 Type III Cockayne Syndrome, Type III HOME

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

Aging Research Center Home Page All Previous Aging Related Articles On-line Medical Dictionary National Library of Medicine's PubMed directory of MEDLINE citations. Cockayne syndrome and xeroderma pigmentosum. - 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

Aging Research Center Home Page All Previous Aging Related Articles On-line Medical Dictionary National Library of Medicine's PubMed directory of MEDLINE citations. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. - 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

One predicted protein has similarity to the human Cockayne syndrome protein CSA and one with human GTPase XPA binding protein Abstract-9185152 Here, we show that and CSA are each integrated into nearly identical complexes via interaction with Abstract-9676987 CSA protein interacts with CSB protein and with protein, a subunit of the human RNA polymerase II transcription factor IIH. Abstract-340756 One such multiprotein complex containing and is closely related to a complex containing and the Cockayne syndrome group A ( CSA ) protein. Abstract-9978916 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 Mutations in the Cockayne syndrome genes (the CSA and CSB genes acting for preferential repair of active genes by interacting with transcription factor TFIIH ) and in the ataxia telangictasia gene ATM (homologous with PI-3 kinase for signal transduction) have been disclosed.

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

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

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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