41. Cockayne Syndrome HOME Cockayne('s) Syndrome. cockayne syndrome; Cockayne´s Syndrome (IncludesPhoto); cockayne syndrome treatment, prevention and much more; 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

42. ORPHANET® : Cockayne Syndrome Translate this page ORPHANET. ORPHANET database access. cockayne syndrome.Direct access to details Alias Home Page. http://www.orpha.net/static/GB/cockayne.html

ORPHANET database access Cockayne syndrome Direct access to details Alias : Home Page

43. Mitochondrial Repair Of 8-oxoguanine Is Deficient In Cockayne Syndrome Group B. National Library of Medicine's PubMed directory of MEDLINE citations. Mitochondrialrepair of 8oxoguanine is deficient in cockayne syndrome group B. http://www.arclab.org/medlineupdates/abstract_12483520.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. Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B. - Stevnsner T, Nyaga S, De Souza-Pinto NC, Van Der Horst GT, Gorgels TG, Hogue BA, Thorslund T, Bohr VA Oncogene 2002 Dec 12;21(57):8675-82. Reactive oxygen species, which are prevalent in mitochondria, cause oxidative DNA damage including the mutagenic DNA lesion 7,8-dihydroxyguanine (8-oxoG). Oxidative damage to mitochondrial DNA has been implicated as a causative factor in a wide variety of degenerative diseases, and in cancer and aging. 8-oxoG is repaired efficiently in mammalian mitochondrial DNA by enzymes in the base excision repair pathway, including the 8-oxoguanine glycosylase (OGG1), which incizes the lesion in the first step of repair. Cockayne syndrome (CS) is a segmental premature aging syndrome in humans that has two complementation groups, CSA and CSB. Previous studies showed that CSB-deficient cells have reduced capacity to repair 8-oxoG. This study examines the

44. Detection Of Reduced RNA Synthesis In UV-irradiated Cockayne Syndrome Group B Ce Detection of reduced RNA synthesis in UVirradiated cockayne syndrome group Bcells using an isolated nuclear system. - Yamada A, Masutani C, Hanaoka F http://www.arclab.org/medlineupdates/abstract_12379475.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. Detection of reduced RNA synthesis in UV-irradiated Cockayne syndrome group B cells using an isolated nuclear system. - Yamada A, Masutani C, Hanaoka F Biochim Biophys Acta 2002 Oct 21;1592(2):129. Cockayne syndrome (CS) is a human hereditary disorder characterized by UV sensitivity, developmental abnormalities and premature aging. CS cells display a selective deficiency in transcription-coupled repair (TCR), a subpathway of nucleotide excision repair (NER) that preferentially removes lesions from transcribed strands. Following UV irradiation, the recovery of RNA synthesis is abnormally delayed in CS cells in conjunction with TCR deficiency. To date, TCR has been detected in cultured cells, but not in cell-free systems. In this study, we constructed an assay system using isolated nuclei. RNA synthesis catalyzed by RNA polymerases (pol I and II) was measured in nuclei prepared from UV-irradiated cells. In nuclei isolated from HeLa and xeroderma pigmentosum (XP) group C cells

45. Cockayne Syndrome Information Page Diseases Database cockayne syndrome Information Page. cockayne syndrome related topics and differentials, GoCockaynesyndrome specific sites. GoSend cockayne syndrome http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=2907

46. Health Library - Cockayne Syndrome cockayne syndrome. In the classical form of cockayne syndrome (Type I) the symptomsare progressive and typically become apparent after the age of one year. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

47. Health Library - Cockayne Syndrome cockayne syndrome. Self Help Clearinghouse. Share and Care CockayneSyndrome Network. International network. Founded http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29coc

48. Health Library - Cockayne Syndrome cockayne syndrome. Self Help Clearinghouse. Share and Care CockayneSyndrome Network. International network. Founded http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c

49. WEBER-COCKAYNE SYNDROME WEBERcockayne syndrome - This represents a group of rare inherited disordersin which blistering of the skin occurs in response to skin trauma. http://www.mymedadvice.com/html/9/gls_4854.htm

WEBER-COCKAYNE SYNDROME - This represents a group of rare inherited disorders in which blistering of the skin occurs in response to skin trauma . Large fluid-filled blisters can occur in response to injury, skin rubbing, chafing, or even increases in room temperature. Secondary bacterial infection of the blisters is common. Complications include esophageal stricture infections , loss of function of hands and feet, and malnutrition . The dermatologist is the expert in the evaluation and treatment of this disorder.

50. Xeroderma Pigmentosum And Cockayne Syndrome Paramjeet Singh Bagga, Ph.D. Xeroderma Pigmentosum and cockayne syndromeare Heritable Disorders. Xeroderma Pigmentosum (abbreviated http://phobos.ramapo.edu/~pbagga/xpcs.htm

Paramjeet Singh Bagga, Ph.D. Xeroderma Pigmentosum and Cockayne Syndrome are Heritable Disorders Xeroderma Pigmentosum (abbreviated as XP ) is an autosomal recessive genetic disorder. XP is characterized by abnormal pigmentation on the Sun exposed areas of the skin ( thus the name Pigmentosum ), extreme sensitivity of the skin to Sunlight and marked predisposition to skin cancer. In some cases growth and mental retardation are also associated with this syndrome. Back to the Top Back to DNA Repair Mechanisms Source: Friedberg, E.C. 1985. DNA Repair. p. 537. Freeman, USA. Cockayne Syndrome abbreviated as ( CS ) is also a human genetic disorder and is closely related to XP CS is associated with photosensitivity but not necessarily skin cancer. Symptoms of CS include profound growth retardation, retinopathy, cataracts, large sunken eyes and thin prominent nose. These patients have prematurely aged appearance. Back to the Top Back to DNA Repair Mechanisms In comparison to cells from normal individuals, cells derived from XP and CS individuals are highly sensitive to Ultraviolet (UV) radiations. The biochemical defect in

51. Connexion RNA polymerase II transcription. implications for cockayne syndrome.Lee SK, Yu SL, Prakash L, Prakash S. Cell 109(7)82334. 2002. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=ERCC6

52. Connexion implications for cockayne syndrome. 2, Enhancement of XPG mRNA transcription by humaninterferonbeta in cockayne syndrome cells with complementation group B. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=CKN2

53. NORD - National Organization For Rare Disorders, Inc. cockayne syndrome. View Cart/Checkout. Copyright 1986, 1990, 1994, 1995, 2002Synonyms of cockayne syndrome CS; DeafnessDwarfism-Retinal Atrophy; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cockayne Synd

54. Health Library - Cockayne Syndrome Saint Luke's Health System eLibrary. cockayne syndrome. Self Help Clearinghouse.Share and Care cockayne syndrome Network. International network. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

55. Share And Care Home Page WELCOME TO SHARE AND CARE cockayne syndrome NETWORK HOME PAGE. NEWS! TeresaWall cockayne. Share and Care cockayne syndrome Network, Inc. The http://www.afip.org/Departments/environmental/busch/share_care/

56. The Health Library — Genetics And Birth Defects cockayne syndrome. Frequently Asked Questions About cockayne syndromeCockayneSyndrome Network. Genes and Disease cockayne syndromeNCBI. http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetics5.html

Diseases and Disorders Use these links to jump directly to your topic of interest: Birth Defects (General) Cardiovascular Defects Chromosome Disorders Connective Tissue Disorders ... Nervous System Defects Genetics and Birth Defects: Page 1 Page 2 Page 3 Page 4 Dwarfism Dwarfism:MEDLINEplus Dwarfism Types and Definitions:Little People of America Frequently Asked Questions (about Dwarfism):Little People of America The MAGIC Foundation for Children's Growth and Related Adult Disorders ... Skeletal Dysplasia Clinical Summaries:Greenberg Center for Skeletal Dysplasias, Johns Hopkin Achondroplasia Achondroplasia:March of Dimes Achondroplasia:Greenberg Center for Skeletal Dysplasias Achondroplasia:GeneReviews, University of Washington Cockayne Syndrome Frequently Asked Questions About Cockayne Syndrome:Cockayne Syndrome Network Genes and Disease: Cockayne Syndrome:NCBI Cockayne Syndrome:GeneReviews, University of Washington Diastrophic Dysplasia Diastrophic Dysplasia:Greenberg Center for Skeletal Dysplasias Genes and Disease: Diastrophic Dysplasia:NCBI Ellis-van Creveld Syndrome Ellis-van Creveld Syndrome:Greenberg Center for Skeletal Dysplasias Genes and Disease: Ellis-van Creveld Syndrome:NCBI Russell-Silver Syndrome Russell-Silver Syndrome:MAGIC Foundation Russell-Silver Syndrome:NORD Russell-Silver Syndrome:GeneReviews, University of Washington

57. CSB Subfamily Bibliography Citterio E, et al. 1998 Biochemical and biological characterization of wildtypeand ATPase-deficient cockayne syndrome B repair protein. J Biol Chem. 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

58. Zeal.com - United States - New - Personal - Health - Conditions & Illnesses - Ge for United States New - Personal - Health - Conditions Illnesses - GeneticDisorders - Conditions AZ - Conditions DG - Dwarfism - cockayne syndrome. http://www.zeal.com/category/preview.jhtml?cid=10068552

59. Cockayne Syndrome (CS) 1 Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. View the FullRecord Syndrome, cockayne syndrome (CS) 1. Synonyms, NeillDingwall syndrome. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome234.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Cockayne syndrome (CS) 1 Synonyms Neill-Dingwall syndrome progeria-like syndrome progeroid syndrome Summary A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation. The syndrome is sometimes differentiated as Type 1 or A (onset at age 2 years or later), Type 2 or B (named later COMFAK, q.v.), and Type 3 or C (considered as a part of xeroderma pigmentosum complementation group B). Major Features Head and neck: Microcephaly with bird-like facies, prominence of the facial bones, and lack of facial subcutaneous fat. Increased thickening of the skull base and calvaria, especially in the frontal and parietooccipital regions. Eyes: Enophthalmos and retinal pigmentation, the constant features, are frequently associated with optic atrophy, narrowing of the arterioles, cataracts (usually appearing during adolescence), a poor response to mydriasis and, less frequently, corneal dystrophy, nystagmus, and photophobia. Histopathologic findings include loss of nerve fibers and myelin sheath and atrophy of the retinal nerve and ganglion cells. Mouth and oral structures: Dental caries, absence of permanent teeth, atrophy of the alveolar process, condylar dysplasia, and short conical roots occur in some patients.

60. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cockayne+Syndrome Similar pages More results from www.nlm.nih.gov Cockayne's Study New Clues on DNA Damage Repair Processes Now, researchers believe they have linked it to cockayne syndrome, a rare hereditarydisorder in which infants suffer severe developmental failure and early http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cockayne Syndrome

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