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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

Cockayne Syndrome Group B Cellular And Biochemical Functions.
cockayne syndrome Group B Cellular and Biochemical Functions. LichtCL, Stevnsner T, Bohr VA Am J Hum Genet 2003 Nov 24;73(6).
http://www.arclab.org/medlineupdates/abstract_14639525.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. - Licht CL, Stevnsner T, Bohr VA Am J Hum Genet 2003 Nov 24;73(6). The devastating genetic disorder Cockayne syndrome (CS) arises from mutations in the CSA and CSB genes. CS is characterized by progressive multisystem degeneration and is classified as a segmental premature-aging syndrome. The CS complementation group B (CSB) protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome-DNA repair, as well as in general transcription. Recent structure-function studies indicate a process-dependent variation in the molecular mechanism employed by CSB and provide a starting ground for a description of the mechanisms and their interplay. This abstract at PubMed.
The Cockayne Syndrome Group B Gene Product Is Involved In Cellular Repair Of 8-h
The cockayne syndrome group B gene product is involved in cellular repair of 8hydroxyadeninein DNA. - Tuo J, Jaruga P, Rodriguez H, Dizdaroglu M, Bohr VA
http://www.arclab.org/medlineupdates/abstract_12060667.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. - Tuo J, Jaruga P, Rodriguez H, Dizdaroglu M, Bohr VA J Biol Chem 2002 Jun 11;. Cockayne syndrome (CS) is a human disease characterized by sensitivity to sunlight, severe neurological abnormalities and accelerated aging. CS has two complementation groups, CS-A and CS-B. The CSB gene encodes the CSB protein with 1493 amino acids. We previously re-ported that the CSB protein is involved in cellular repair of 8-hydroxyguanine, an abundant le-sion in oxidatively damaged DNA, and that the putative helicase motif V/VI of the CSB may play a role in this process. The present study investigated the role of the CSB protein in cellular re-pair of 8-hydroxyadenine, another abundant lesion in oxidatively damaged DNA. Extracts of CS-B null cells and mutant cells with site-directed mutation in the motif VI of the putative heli-case domain incised 8-hydroxyadenine in vitro less efficiently than wild type cells. Furthermore, CS-B
Blackwell Synergy - Cookie Absent
THE SYNDROME PAGE What Syndrome Is This? cockayne syndrome. cockayne syndrome.Discussion, Go to Choose,
http://www.blackwell-synergy.com/links/doi/10.1111/j.1525-1470.2003.20619.x/abs/

Extractions: Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.
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/
Cockayne, Syndrome : Arborescences MeSH
Translate this page cockayne, syndrome arborescences MeSH. Menu général CISMeF. Vouspouvez aussi consulter toutes les arborescences des mots clés
http://www.chu-rouen.fr/navimesh/C/navicockaynesyndrome.html
Cockayne's Syndrome (www.whonamedit.com)
cockayne s syndrome Symptom complex with long list of clinical features, includingdwarfism with disproportionately long extremities and large hands and feet
http://www.whonamedit.com/synd.cfm/1182.html

Extractions: 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. 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.
Dictionary Definition Of COCKAYNE'S SYNDROME
Dictionary definition of cockayne S syndrome. Medical dictionary.Browse Dictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A B C D E F G
http://www.dictionarybarn.com/COCKAYNES-SYNDROME.php
Cockayne's Syndrome
Browse entry words starting with A, B, C, D, E, F, G, H, I, J, K, L, M,N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, cockayne s syndrome,.Print this article,
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/COCKAYNES SYNDRO

Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters 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.
Cockayne's Syndrome
cockayne s syndrome,. Print this article, (Edward Alfred cockayne, 18801956,English physician), inherited, autosomal recessive leukodystrophy.
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/COCKAYNES SYNDR

Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Cockayne's syndrome, (Edward Alfred Cockayne, 18801956, English physician), inherited, autosomal recessive leukodystrophy . Pathologically the disease is characterized by demyelination in a patchy fashion with preservation of areas of normal myelin; sudanophilic lipids may be found together with astrogliosis and calcium deposition mainly perivascularly. Symptoms present in infancy and are characterized by ataxia, delayed development and progressive spasticity. CT and more usually MR show extensive areas of demyelination with increased T2 signal on MR T2-weighted images; calcification may be present in the basal ganglia and cerebellum.
ORPHANET® : Cockayne, Syndrome De
Translate this page cockayne, syndrome de. Accès direct aux détails Résumé Le syndrome de cockayneest une affection rare transmise sur le mode autosomique récessif.
http://www.orpha.net/static/FR/cockayne.html

Extractions: Le syndrome de Cockayne est une affection rare transmise sur le mode autosomique récessif. Il se développe dans la deuxième année de vie. Le diagnostic repose sur l'examen des signes cliniques : état poïkilodermique, nanisme, retard mental, rétinite pigmentaire, cécité et surdité sensorielle. La prise en charge est multidisciplinaire. La photoprotection des yeux et de la peau est essentielle en raison d'un déficit important de la réparation de l'ADN après exposition solaire. *Auteur : Dr C. Blanchet-Bardon (mars 2002)*. Signes de la maladie ANOMALIE DE L'AUDITION/SURDITE AREFLEXIE / HYPOREFLEXIE ATAXIE / INCOORDINATION CONJONCTIVE TELANGIECTASIES DIFFICULTE D'ELEVAGE ENOPHTALMIE EPHELIDES (TACHES DE ROUSSEUR) EN EXCES HYPOHIDROSE / HYPOSUDATION MAIGREUR (AUTRE QUE LIPODYSTROPHIE) MEMBRES LONGS MICROCEPHALIE PETITE TAILLE / NANISME PHOTOSENSIBILITE CUTANEE PIED BOT VARUS/VALGUS RETARD MENTAL / PSYCHO-MOTEUR RETARD MENTAL MODERE / LEGER RETARD MENTAL SEVERE SURDITE DE PERCEPTION TACHES CAFE AU LAIT TRANSMISSION AUTOSOMIQUE RECESSIVE ATROPHIE OPTIQUE CALCIFICATIONS INTRACRANIENNES CARIES DENTAIRES MULTIPLES CHEVEUX RARES/HYPOTRICHIE/ATRICHIE CONDUCTION NERVEUSE ANORMALE CYPHOSE E.E.G. ANORMAL
Cockayne's Syndrome - General Practice Notebook
cockayne s syndrome. cockayne s syndrome is a very rare autosomalrecessive degenerative disease characterised by cutaneous, ocular
http://www.gpnotebook.co.uk/cache/-825229288.htm

Extractions: 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.
Cockayne (syndrome De)
Translate this page cockayne (syndrome de). voir également progeria, nystagmus, chorée, athétose. Lesyndrome de cockayne fait partie des leucodystrophies soudanophiles.
http://www.vulgaris-medical.net/textc/cockayne.htm
Entrez PubMed
Click here to read RAD26, the yeast homolog of human cockayne s syndromegroup B gene, encodes a DNAdependent ATPase. Guzder SN
http://www.biomedcentral.com/pubmed/8702468

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http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?216400

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