81. 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

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 Group B Cellular and Biochemical Functions. - 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.

82. 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

Aging Research Center Home Page All Previous Aging Related Articles On-line Medical Dictionary National Library of Medicine's PubMed directory of MEDLINE citations. The cockayne syndrome group B gene product is involved in cellular repair of 8-hydroxyadenine in DNA. - 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

83. 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/

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84. 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

85. 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, syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF appareil locomoteur, maladies os, maladies dysplasies os nanisme ... nanisme thanatophore 07 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

86. 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

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. 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.

87. 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

Dictionary definition of COCKAYNE'S SYNDROME Browse Dictionary by alphabet A B C D ... Z Top Words Co co-immobilised enzyme co-ossification co-ossify ... coccinellin Synonym: Cockayne's disease. Please select first two letters of word you are looking for CA CB CC CD ... CZ fiSearchFormMaxSetId='AX006027'; Top Words coccobacillary coccobacillus coccoid cocculin ... Home Sponsored By: North Dakota Car Rentals Ohio Car Rentals Oklahoma Car Rentals

88. 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

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. HC The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

89. 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

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. GS The Encyclopaedia of Medical Imaging Volume VI:1 Contacts GE Healthcare Making Waves

90. 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

Accès à la base de données Orphanet Cockayne, syndrome de Accès direct aux détails Alias Cockayne type 1, syndrome de Cockayne type 2, syndrome de Cockayne type 3, syndrome de Résumé 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

91. 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

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...

92. 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

Cockayne (syndrome de) En anglais : Cockayne’s syndrom. Retard mental Radio Les os de la main (carpe) et ceux du pied (tarse) seront un peu trop volumineux. Le scanner L’IRM Evolution et complications Troubles hormonaux (de l’hormone de croissance, de l’insuline).

93. 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

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order J Biol Chem. 1996 Aug 2;271(31):18314-7. Related Articles, Links RAD26, the yeast homolog of human Cockayne's syndrome group B gene, encodes a DNA-dependent ATPase. Guzder SN, Habraken Y, Sung P, Prakash L, Prakash S.

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

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