81. Cockayne Syndrome: An Atypical Case -- Kennedy Et Al. 30 (12): 1268 -- Neurology cockayne syndrome an atypical case. RM Kennedy, VD Rowe and JJ Kepes. We report a case of cockayne syndrome with several atypical features. http://www.neurology.org/cgi/content/abstract/30/12/1268

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Kennedy, R. M. Articles by Kepes, J. J. ARTICLES Cockayne syndrome: an atypical case RM Kennedy, VD Rowe and JJ Kepes We report a case of Cockayne syndrome with several atypical features. The patient displayed many of the typical features, including cachectic bird-headed dwarfism, photodermatitis, normal pressure hydrocephalus, and extraphyramidal and pyramidal tract signs. However, she also displayed the unusual and previously unreported features of late age at onset, relative stability until age 19, and fertility, with a successful pregnancy. Brain biopsy showed hypomyelination, no active demyelination, and fibrillary

82. Cockayne Syndrome And Xeroderma Pigmentosum: DNA Repair Disorders With Overlaps OBJECTIVES To review genetic variants of cockayne syndrome (CS) and xeroderma Primary fibroblasts of cockayne syndrome patients are defective in http://www.neurology.org/cgi/content/abstract/55/10/1442

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Rapin, I. Articles by Robbins, J. H. Neurology American Academy of Neurology Cockayne syndrome and xeroderma pigmentosum DNA repair disorders with overlaps and paradoxes I. Rapin, MD Y. Lindenbaum, MD D. W. Dickson, MD K. H. Kraemer, MD and J. H. Robbins, MD From the Saul R. Korey Department of Neurology (Drs. Rapin, Lindenbaum, and Dickson), the Department of Pediatrics (Dr. Rapin), the Rose F. Kennedy Center for Research in Mental Retardation and Human Development (Drs. Rapin and Dickson), and the Division of Neuropathology (Dr. Dickson), Department of Pathology, Albert Einstein College of Medicine, Bronx, NY; the Department of Neurology (Dr. Lindenbaum), Ohio State University College of Medicine, Columbus; the Department of Pathology (Dr. Dickson), Mayo Clinic Jacksonville, FL; the Basic Research Laboratory (Dr. Kraemer) and the Dermatology Branch (Dr. Robbins), National Cancer Institute, NIH, Bethesda, MD. Address correspondence and reprint requests to Dr. Isabelle Rapin, Room 807 Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY 10461; e-mail:

83. Deficient Repair Of The Transcribed Strand Of Active Genes In Cockayne's Syndrom The genetic defect in cockayne syndrome is associated with a defect in repair of UVinduced DNA damage in transcriptionally active DNA. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=310470

84. Ultraviolet-induced Mutations In Cockayne Syndrome Cells Are Primarily Caused By We compared the contribution to mutagenesis in cockayne syndrome (CS) cells of the major Cockayne s syndrome fibroblasts have increased sensitivity to http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=47116

85. The Cockayne Syndrome B Protein, Involved In Transcription-coupled DNA Repair, R Translocation of cockayne syndrome group A protein to the nuclear matrix The cockayne syndrome Group B Gene Product Is Involved in General Genome Base http://embojournal.npgjournals.com/cgi/content/abstract/16/19/5955

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Download to citation manager Cited by other online articles PubMed PubMed Citation Articles by van Gool, A. J. Articles by Hoeijmakers, J. H.J. The EMBO Journal Vol. 16 No. 19 pp. 5955-5965, 1997 The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex Alain J. van Gool Elisabetta Citterio Suzanne Rademakers Roselinde van Os Wim Vermeulen Angelos Constantinou Jean-Marc Egly Dirk Bootsma and Jan H.J. Hoeijmakers MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands, Department of Genetics and Microbiology, University Medical Center, 9 Avenue de Champel, 1211 Geneva 4, Switzerland and Present address: ICRF Clare Hall Laboratories, South Mimms, Herts EN6 3LD, UK

86. RAD26, The Functional S. Cerevisiae Homolog Of The Cockayne Syndrome B Gene ERCC A common mutational pattern in cockayne syndrome patients from xeroderma The cockayne syndrome B protein, involved in transcriptioncoupled DNA repair, http://embojournal.npgjournals.com/cgi/content/abstract/13/22/5361

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Download to citation manager Cited by other online articles PubMed PubMed Citation Articles by van Gool, A. J. Articles by Hoeijmakers, J. H. RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6 AJ van Gool, R Verhage, SM Swagemakers, P van de Putte, J Brouwer, C Troelstra, D Bootsma and JH Hoeijmakers MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands. Transcription-coupled repair (TCR) is a universal sub-pathway of the nucleotide excision repair (NER) system that is limited to the transcribed strand of active structural genes. It accomplishes the preferential elimination of transcription-blocking DNA lesions and permits rapid resumption of the vital process of transcription. A defect in TCR is responsible for the rare hereditary disorder Cockayne syndrome (CS).

87. Primary Fibroblasts Of Cockayne Syndrome Patients Are Defective In Cellular Repa cockayne syndrome (CS) is a genetic human disease with clinical symptoms that include neurodegeneration and premature aging. The disease is caused by the http://www.fasebj.org/cgi/content/full/17/6/668

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by TUO, J. Articles by DIZDAROGLU, M. The FASEB Journal. FASEB Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress JINGSHENG TUO PAWEL JARUGA HENRY RODRIGUEZ VILHELM A. BOHR and MIRAL DIZDAROGLU Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, Maryland, USA; and Chemical Science and Technology Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland, USA Correspondence: Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, 5600 Nathan Shock Dr., Baltimore, MD 21224, USA. E-mail: ; Chemical Science and Technology Laboratory, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA. E-mail:

88. GEMdatabase - Selected Title TITLE, cockayne syndrome. DESCRIPTION, This review focuses on the diagnosis, and genetic counseling of patients and families with cockayne syndrome. http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=859

89. The Human Genome - Signals Overview From NCBI In the classical form of cockayne syndrome (Type I), the symptoms are progressive THE MAIN CHARACTERISTICS of Waardenburg syndrome (WS) include a wide http://anatomy.med.unsw.edu.au/cbl/GENOME/Genes_Diseases/Signals/signals_overvie

DNA- NCBI Genes and Diseases Signals Back to Index INTRODUCTION SIGNAL TRANSDUCTION within and between cells mean that they can communicate important information and act upon it. Hormones released from their site of synthesis carry a message to their target site, as in the case of leptin, which is released from adipose tissue (fat cells) and transported via the blood to the brain. Here, the leptin signals that enough has been eaten. Leptin binds to a receptor on the surface of hypothalamus cells, triggering subsequent intracellular signaling networks. Intracellular signaling defects account for several diseases, including cancers, ataxia telangiectasia and Cockayne syndrome. Faulty DNA repair mechanisms are also invoked in pathogenesis, since control of cell division, DNA synthesis and DNA repair all are inextricably linked. The end-result of many cell signals is to alter the expression of genes (transcription) by acting on DNA-binding proteins. Some diseases are the result of a lack of or a mutation in these proteins, which stop them from binding DNA in the normal way.

90. CSB Subfamily Bibliography Selby CP, 1997 cockayne syndrome group B protein enhances elongation by RNA Friedberg EC, 1996 cockayne syndromea primary defect in DNA repair, http://www.tigr.org/~jeisen/SNF2/Biblio/Biblio.CSB.html

Citterio E, et al. 1998 Biochemical and biological characterization of wild-type and ATPase-deficient cockayne syndrome B repair protein. J Biol Chem. 1998 May 8; 273(19): 11844-11851. Selby CP, 1997 Cockayne syndrome group B protein enhances elongation by RNA polymerase II. Proc Natl Acad Sci U S A 94(21), 11205-11209 van Gool AJ, 1997 The cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex. EMBO J 16(19), 5955-5965 Tu Y, 1997 Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells. J Biol Chem 272(33), 20747-20755 van Gool AJ, 1997 Cockayne syndrome: defective repair of transcription? EMBO J 16(14), 4155-4162 van der Horst GT, 1997 Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 89(3), 425-435 Balajee AS, 1997 Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. Proc Natl Acad Sci U S A 94(9), 4306-4311 Friedberg EC, 1996

91. The Sensitivity Of Cockayne's Syndrome Cells To DNA-damaging Agents Is Not Due T Two of the hallmarks of Cockayne s syndrome (CS) are the hypersensitivity The cockayne syndrome Group B Gene Product Is Involved in General Genome Base http://mcb.asm.org/cgi/content/abstract/16/8/4436

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Books from ASM Press PubMed PubMed Citation Articles by van Oosterwijk, M. F. Articles by Mullenders, L. H. Mol. Cell. Biol., Aug 1996, 4436-4444, Vol 16, No. 8 The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes MF van Oosterwijk, A Versteeg, R Filon, AA van Zeeland and LH Mullenders MGC-Department of Radiation Genetics and Chemical Mutagenesis, Leiden University, The Netherlands. Two of the hallmarks of Cockayne's syndrome (CS) are the hypersensitivity of cells to UV light and the lack of recovery of the ability to synthesize RNA following exposure of cells to UV light, in spite of the normal repair capacity at the overall genome level. The prolonged repressed RNA synthesis has been attributed to a defect in transcription-coupled repair, resulting

92. SYNDROME DE COCKAYNE Informations pour rapprocher les familles touch©es par cette maladie g©n©tique rare, forme rare de nanisme. Offre une description des sympt´mes, des photographies et des liens. http://cockayne.free.fr/

SYNDROME DE COCKAYNE BAPTISTE 3 ans "Suivre, heureux, un étroit chemin, et n'être qu'un homme qui passe tenant son enfant par la main." Victor HUGO

93. Cockayne's Syndrome (www.whonamedit.com) cockayne s syndrome Symptom complex with long list of clinical features, including dwarfism with disproportionately long extremities and large hands and http://www.whonamedit.com/synd.cfm/1182.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Cockayne's syndrome Also known as: Neill-Dingwall syndrome Synonyms: Progeria-like syndrome, progeroid nanism. Associated persons: Edward Alfred Cockayne Mary M. Dingwall Catherine A. Neill Description: Symptom complex with long list of clinical features. Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely old appearance, sparse hair, mental retardation, sensorineural deafness, blindness due to retinal degeneration, coarse voice, deep eyes, prognathism, thickened skull, hypersensitivity of the skin to sunlight with pigmentation and scarring, unsteady gait, dental caries appearing during the second year of life, progressive upper motor neurone and cerebellar dysfunction, lack of subcutaneous fat of the face. Two distinct types of CS have been identified. CS type I is the classic and most common form. CS type II is more severe and characterized by the early onset of symptoms. Even though no two children with CS are identical, they often resemble each other more than they resemble their unaffected siblings because of the distinguishing characterists of the syndrome, especially as they get older.

94. UniProt Knowledgebase Keyword: Cockayne's Syndrome Protein which, if defective, causes cockayne s syndrome (CS), libs={swiss_prot}keywords cockayne s syndrome libs-keywords cockayne s syndrome. http://www.expasy.org/cgi-bin/get-entries?KW=Cockayne's syndrome

95. Cockayne's Syndrome - General Practice Notebook cockayne s syndrome is a very rare autosomal recessive degenerative disease characterised by cutaneous, ocular, neurologic and somatic abnormalities. http://www.gpnotebook.co.uk/cache/-825229288.htm

Cockayne's syndrome Cockayne's syndrome is a very rare autosomal recessive degenerative disease characterised by cutaneous, ocular, neurologic and somatic abnormalities. Cutaneous findings include photosensitivity, diffuse hyperpigmentation and loss of subcutaneous fat. Ocular findings include cataracts, optic atrophy and a characteristic "salt and pepper" appearance of the retina. Neurologic findings include deafness, peripheral neuropathy, normal pressure hydrocephalus and microcephaly. The pathogenesis of the neurological dysfunction is thought to be dysmyelination. Somatic abnormalities include cachectic dwarfism - height and weight are usually below the third percentile for age. Click here for more information...

96. Cockayne's Syndrome - Definition Of Cockayne's Syndrome In The Medical Dictionar Definition of cockayne s syndrome in the Medical Dictionary and Thesaurus. cockayne s syndrome explanation. Information about cockayne s syndrome in Free http://medical-dictionary.thefreedictionary.com/Cockayne's syndrome

Domain='thefreedictionary.com' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia Cockayne's syndrome 0.03 sec. Page tools Printer friendly Cite / link Email Feedback Cock·ayne's syndrome (k -k nz n. A hereditary syndrome characterized by dwarfism, a precociously senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, and mental retardation. Mentioned in No references found Medical browser Full browser cochlear labyrinth cochlear nerve cochlear nucleus cochleopalpebral reflex ... cochlitis Cockayne's syndrome cocktail cod-liver oil code blue codeine ... Cockayne Syndrome a Cockayne's syndrome Cockbill Cockbite Cockblock cockboat ... Cockcroft, John Douglas Word (phrase): Word Starts with Ends with Definition Free Tools: For surfers: Browser extension Word of the Day NEW!

97. Arch Ophthalmol -- Abstract: Histopathology Of The Eye In Cockayne's Syndrome, J The eyes of a 44month-old boy with cockayne s syndrome had retinal pigmentary abnormalities that included variable pigmentation and excessive lipofuscin http://archopht.ama-assn.org/cgi/content/abstract/101/7/1093

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 101 No. 7, July 1983 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Levin PS MacLean AL Contact me when this article is cited Histopathology of the eye in Cockayne's syndrome P. S. Levin, W. R. Green, D. I. Victor and A. L. MacLean The eyes of a 44-month-old boy with Cockayne's syndrome had retinal pigmentary abnormalities that included variable pigmentation and excessive lipofuscin deposition in the retinal pigment epithelium and unusual pigmented cells in the retina and subretinal space. There was optic nerve atrophy with loss of nerve fibers and myelin sheaths and also atrophy of the retinal nerve fiber and ganglion cell layers consistent with the histologic features of a demyelinating disease. Widespread pigment

98. Cockayne S Syndrome Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 2/COCKAYNES SYNDRO

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Cockayne's syndrome, (Edward Alfred Cockayne, 18801956, English physician), a complex of developmental abnormalities consisting of dwarfism, photosensitivity dermatitis, retinal pigmentation abnormalities and accelerated atherosclerosis CBH The Encyclopaedia of Medical Imaging Volume V 2 Corporate Products Financial Services Our Commitment ... Terms of Conditions

99. Cockayne S Syndrome Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/COCKAYNES SYNDRO

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Cockayne's syndrome, (Edward Cockayne, 18801956, British paediatrician and dermatologist), progressive growth failure with short stature, developmental delay and progressive neurological dysfunction. There are often cutaneous abnormalities, progressive pigmented retinopathy, dental caries and sensineuronal hearing loss. Radiologically there is microcephaly with a thick cranial vault and a small sella turcica. Intracranial calcification occurs in the basal ganglia and subcortical white matter, cerebellum and pineal glands. Brain atrophy is common. Inheritance is autosomal recessive. HC The Encyclopaedia of Medical Imaging Volume VII Corporate Products Financial Services Our Commitment ... Terms of Conditions

100. Cockayne, Syndrome : Sites Et Documents Francophones cockayne type 1, syndrome de ; cockayne type 2, http://www.chu-rouen.fr/ssf/pathol/cockaynesyndrome.html

Cockayne, syndrome Définition [MeSH Scope Note ; traduction CISMeF] : Syndrome héréditaire phénotypiquement caractérisé par un facies peu commun (grandes oreilles et yeux enfoncés dans les orbites), un échec de croissance, une détérioration intellectuelle, une perte de graisse sous-cutanée, une dégénération rétinienne pigmentaire, une surdité neurale, un nanisme, une photosensibilité, une atrophie du nerf optique, une neuropathie périphérique, et une cataracte. L'examen pathologique indique une perte inégale de myéline centrale et une atrophie de la substance blanche. Le syndrome de Cockayne peut être divisé en 2 ou plusieurs sous-types génétiques distincts. (d'après Menkes, Manuel de Neurologie chez l'enfant, 5ème ED, p197) Synonyme(s) CISMeF Cockayne ; Cockayne type 1, syndrome de ; Cockayne type 2, syndrome de ; Cockayne type 3, syndrome de . Synonyme(s) MeSH Nanisme progéroïde Voir aussi retard mental Arborescence(s) Cockayne, syndrome Cockayne syndrome maladies de l'appareil locomoteur maladies du système nerveux maladies endocriniennes maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : patient Cockayne, syndrome de

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