Genomes and Genes
Summary: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
Publications258 found, 100 shown here
- Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemiaKazuya Kashiyama
Department of Plastic and Reconstructive Surgery, Graduate School of Biomedical Sciences, Nagasaki University, 1 7 1 Sakamoto, Nagasaki 852 8501, Japan
Am J Hum Genet 92:807-19. 2013b>Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of ..
- Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophyWim J Kleijer
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
DNA Repair (Amst) 7:744-50. 2008..in western Europe from the early seventies for xeroderma pigmentosum (XP) and from the mid-eighties for Cockayne syndrome (CS) and trichothiodystrophy (TTD)...
- Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndromeKatsuyoshi Horibata
Laboratories of Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University, and Core Research for Evolutional Science and Technology, Japan Science and Technology Agency, 1 3 Yamadaoka, Suita, Osaka 565 0871, Japan
Proc Natl Acad Sci U S A 101:15410-5. 2004..not belong to any complementation groups of known photosensitive disorders such as xeroderma pigmentosum and Cockayne syndrome (CS)...
- ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factorE Citterio
Medical Genetic Center, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
Mol Cell Biol 20:7643-53. 2000The Cockayne syndrome B protein (CSB) is required for coupling DNA excision repair to transcription in a process known as transcription-coupled repair (TCR)...
- Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel
Laboratory of Medical Genetics, University of Strasbourg, Strasbourg, France
Hum Mutat 31:113-26. 2010b>Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally by neurological and sensory impairment, cachectic dwarfism, and photosensitivity...
- An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stressBarbara Pascucci
Istituto di Cristallografia, Consiglio Nazionale delle Ricerche, Via Salaria, km 29, 300, 00016 Monterotondo Stazione, Rome, Italy
Aging Cell 11:520-9. 2012b>Cockayne syndrome (CS) is a rare hereditary multisystem disease characterized by neurological and development impairment, and premature aging...
- The role of Cockayne Syndrome group B (CSB) protein in base excision repair and agingTinna Stevnsner
Danish Centre for Molecular Gerontology, Department of Molecular Biology, University of Aarhus, C F Møllers Alle, Aarhus C, Denmark
Mech Ageing Dev 129:441-8. 2008b>Cockayne Syndrome (CS) is a rare human genetic disorder characterized by progressive multisystem degeneration and segmental premature aging...
- A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repairRoy Anindya
Clare Hall Laboratories, Cancer Research UK London Research Institute, Blanche Lane, South Mimms EN6 3LD, UK
Mol Cell 38:637-48. 2010..Defective TCR in humans is associated with Cockayne syndrome (CS), typically caused by defects in either CSA or CSB...
- Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networksRenier Velez-Cruz
Department of Functional Genomics and Cancer, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, CNRS INSERM Université de Strasbourg, BP 163, 67404 Illkirch Cedex, C U Strasbourg, France
Mech Ageing Dev 134:234-42. 2013b>Cockayne syndrome (CS) is a rare genetic disorder characterized by a variety of growth and developmental defects, photosensitivity, cachectic dwarfism, hearing loss, skeletal abnormalities, progressive neurological degeneration, and ..
- Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cellsRenier Velez-Cruz
Department of Functional Genomics and Cancer, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale, Universite de Strasbourg, 67404 Illkirch, France
Proc Natl Acad Sci U S A 110:E212-20. 2013..mutations in the XPD subunit of transcription factor IIH result in combined xeroderma pigmentosum (XP)/Cockayne syndrome (CS), a severe DNA repair disorder characterized at the cellular level by a transcriptional arrest following ..
- Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 proteinRobert J Lake
Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6145, USA
J Biol Chem 286:34951-8. 2011The Cockayne syndrome complementation group B (CSB) protein is an ATP-dependent chromatin remodeler with an essential function in transcription-coupled DNA repair, and mutations in the CSB gene are associated with Cockayne syndrome...
- Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactorBrian R Berquist
Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
J Mol Biol 391:820-32. 2009The Cockayne syndrome group B protein (CSB) is a member of the SWI/SNF2 subgroup of Superfamily 2 ATPases/nucleic acid translocases/helicases and is defective in the autosomal recessive segmental progeroid disorder Cockayne syndrome...
- Cockayne syndrome group B protein enhances elongation by RNA polymerase IIC P Selby
Department of Biochemistry and Biophysics, University of North Carolina School of Medicine, Chapel Hill, NC 27599 7260, USA
Proc Natl Acad Sci U S A 94:11205-9. 1997b>Cockayne syndrome (CS) is characterized by impaired physical and mental development. Two complementation groups, CSA and CSB, have been identified. Here we report that the CSB gene product enhances elongation by RNA polymerase II...
- A comprehensive description of the severity groups in Cockayne syndromeValerie Natale
Obura Company, San Jose, California, USA
Am J Med Genet A 155:1081-95. 2011b>Cockayne syndrome (CS) is a rare degenerative disorder with a common set of symptoms but a very wide variation in phenotype...
- Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne SyndromeAltaf H Sarker
Life Sciences Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Mail Stop 74R157, Berkeley, California 94720, USA
Mol Cell 20:187-98. 2005Loss of a nonenzymatic function of XPG results in defective transcription-coupled repair (TCR), Cockayne syndrome (CS), and early death, but the molecular basis for these phenotypes is unknown...
- Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repairXue Zhang
Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan
Nat Genet 44:593-7. 2012..b>Cockayne syndrome is a related disorder with defective TCR and consists of two complementation groups, Cockayne syndrome (CS)-..
- Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cellsPia Ø Osenbroch
Institute of Clinical Biochemistry, Faculty Division Rikshospitalet, University of Oslo, Norway
FEBS J 276:2811-21. 2009b>Cockayne syndrome (CS) is a complex, progressive disease that involves neurological and developmental impairment and premature aging. The majority of CS patients have mutations in the CSB gene...
- Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome miceR R Laposa
Department of Dermatology and Cancer Center, University of California, San Francisco, CA 94143 0808, USA
Proc Natl Acad Sci U S A 104:1389-94. 2007b>Cockayne syndrome (CS) is a rare recessive childhood-onset neurodegenerative disease, characterized by a deficiency in the DNA repair pathway of transcription-coupled nucleotide excision repair...
- Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stressJingsheng Tuo
Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
FASEB J 17:668-74. 2003b>Cockayne syndrome (CS) is a genetic human disease with clinical symptoms that include neurodegeneration and premature aging. The disease is caused by the disruption of CSA, CSB, or some types of xeroderma pigmentosum genes...
- An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndromeJohn C Newman
Department of Biochemistry, School of Medicine, University of Washington, Seattle, Washington, United States of America
PLoS Genet 4:e1000031. 2008b>Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein...
- Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexesD Tantin
Molecular Biology Institute, UCLA School of Medicine, Los Angeles, California 90095 1737, USA
Mol Cell Biol 17:6803-14. 1997..CSB is a DNA-activated ATPase, and hydrolysis of the ATP beta-gamma phosphoanhydride bond is required for the formation of a stable Pol II-CSB-DNA-RNA complex. Unlike CSB, CSA does not directly bind Pol II...
- An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repairJaan Olle Andressoo
MGC Cancer Genomics Center, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus Medical Center, Erasmus University, P O Box 1738, 3000 DR Rotterdam, The Netherlands
Mol Cell Biol 29:1276-90. 2009..NER) factor TFIIH display the combined cancer and developmental-progeroid disorder xeroderma pigmentosum/Cockayne syndrome (XPCS)...
- Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblastsGraciela Spivak
Department of Biological Sciences, Stanford University, Stanford, CA 94305 5020, USA
DNA Repair (Amst) 5:13-22. 2006..No neurological or developmental abnormalities or predisposition to cancer have been reported. In contrast, Cockayne syndrome (CS) patients exhibit severe developmental and neurological defects, in addition to photosensitivity...
- CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic responseSilvia Filippi
Laboratory of Molecular Cytogenetics and Mutagenesis, Department ABAC, University of Tuscia, Viterbo, Italy
EMBO J 27:2545-56. 2008b>Cockayne syndrome (CS) is a rare genetic disease characterized by neurological problems, growth failure and premature ageing...
- Cell type-specific hypersensitivity to oxidative damage in CSB and XPA miceHarm de Waard
MGC, Department of Cell Biology and Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
DNA Repair (Amst) 2:13-25. 2003Mutations in the CSB gene cause Cockayne syndrome (CS), a rare inherited disorder, characterized by UV-sensitivity, severe neurodevelopmental and progeroid symptoms...
- Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndromeKyu Seon Oh
DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 4258, USA
Hum Mutat 27:1092-103. 2006..mild xeroderma pigmentosum (XP) symptoms not previously associated with XPB mutations and two have severe XP/Cockayne syndrome (CS) complex symptoms. All XP-B cells had reduced NER and post-ultraviolet (UV) cell viability...
- DNA damage stabilizes interaction of CSB with the transcription elongation machineryVincent van den Boom
Department of Cell Biology and Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, Netherlands
J Cell Biol 166:27-36. 2004The Cockayne syndrome B (CSB) protein is essential for transcription-coupled DNA repair (TCR), which is dependent on RNA polymerase II elongation. TCR is required to quickly remove the cytotoxic transcription-blocking DNA lesions...
- Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group BTinna Stevnsner
Danish Center for Molecular Gerontology, Department of Molecular Biology, University of Aarhus, DK 8000 Aarhus C, Denmark
Oncogene 21:8675-82. 2002..b>Cockayne syndrome (CS) is a segmental premature aging syndrome in humans that has two complementation groups, CSA and CSB...
- Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genesA Yu
Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, Connecticut 06510, USA
Mol Cell 5:801-10. 2000..We now show that loss of the Cockayne syndrome group B protein (CSB) or overexpression of the p53 carboxy-terminal domain induces fragility of the same ..
- Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by Escherichia coli formamidopyrimidine DNA glycosylaseMonica Ropolo
Experimental Oncology B Laboratory, Department of Translational Oncology, Istituto Nazionale Ricerca Cancro, Largo Rosanna Benzi n 10, 16132 Genova, Italy
Free Radic Biol Med 42:1807-17. 2007..8-oxo-7,8-dihydroguanine (8-oxoGua) is inefficient in cells belonging to the B complementation group of Cockayne syndrome (CS-B), a developmental and neurological disorder characterized by defective transcription-coupled repair...
- Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeriaLear E Brace
Department of Genetics and Complex Diseases, Harvard School of Public Health, 655 Huntington Ave, Boston, MA, 02115, USA
Aging Cell 12:1144-7. 2013b>Cockayne syndrome (CS) is a rare autosomal recessive segmental progeria characterized by growth failure, lipodystrophy, neurological abnormalities, and photosensitivity, but without skin cancer predisposition...
- Neuroimaging in Cockayne syndromeM Koob
Departments of Radiology II, Strasbourg Hautepierre University Hospital, 1 Avenue Moliere, Strasbourg Cedex, France
AJNR Am J Neuroradiol 31:1623-30. 2010..These combined neuroradiologic findings can help in the differential diagnosis of CS, distinguishing it from other leukoencephalopathies and/or cerebral calcifications in childhood...
- Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndromeVincent Laugel
Laboratory of Medical Genetics, Faculte de Medecine, Strasbourg, France
Eur J Hum Genet 16:320-7. 2008b>Cockayne syndrome is an autosomal recessive neurodegenerative disorder characterized by a specific defect in the repair of UV-induced DNA lesions...
- UV-induced association of the CSB remodeling protein with chromatin requires ATP-dependent relief of N-terminal autorepressionRobert J Lake
Epigenetics and Progenitor Cells Keystone Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA
Mol Cell 37:235-46. 2010..chromatin remodeler CSB is essential for transcription-coupled DNA repair, and mutations in CSB lead to Cockayne syndrome. Here, we examined the recruitment of CSB to chromatin after ultraviolet (UV) irradiation and uncovered a ..
- DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophyAlan R Lehmann
Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, UK
Biochimie 85:1101-11. 2003Xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) are genetic disorders with very different clinical features, but all associated with defects in nucleotide excision repair...
- Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stabilityNicole L Batenburg
Department of Biology, McMaster University, 1280 Main St West Hamilton, ON, Canada L8S4K1
Nucleic Acids Res 40:9661-74. 2012The majority of Cockayne syndrome (CS) patients carry a mutation in Cockayne Syndrome group B (CSB), a large nuclear protein implicated in DNA repair, transcription and chromatin remodeling...
- An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeriaJaan Olle Andressoo
Medical Genetics Center, Department of Cell Biology and Genetics, Center of Biomedical Genetics, Cancer Genomics Center, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
Cancer Cell 10:121-32. 2006..elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD])...
- p53 modulation of TFIIH-associated nucleotide excision repair activityX W Wang
Laboratory of Human Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 4255, USA
Nat Genet 10:188-95. 1995..Moreover, repair of UV-induced dimers is slower in Li-Fraumeni syndrome cells (heterozygote p53 mutant) than in normal human cells. Our findings indicate that p53 may play a direct role in modulating nucleotide excision repair pathways...
- Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stressUlrik Kristensen
Department of Functional Genomics and Cancer Biology, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale, Laboratory of Medical Genetics, University of Strasbourg, 67404 Illkirch Cedex, France
Proc Natl Acad Sci U S A 110:E2261-70. 2013b>Cockayne syndrome type B ATPase (CSB) belongs to the SwItch/Sucrose nonfermentable family...
- Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic diseaseP J Brooks
Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, NIH, 5625 Fishers Lane, 3S 32, Bethesda, MD 20892, USA
DNA Repair (Amst) 12:656-71. 2013b>Cockayne syndrome (CS) is a devastating neurodevelopmental disorder, with growth abnormalities, progeriod features, and sun sensitivity...
- Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndromeMasaharu Hayashi
Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, 2 6 Musashi dai, Fuchu shi, Tokyo 183 8526, Japan
Brain Dev 27:34-8. 2005Xeroderma pigmentosum group A (XPA) and Cockayne syndrome (CS) are caused by a genetic defect of nucleotide excision repair mechanisms, showing cutaneous hypersensitivity to sunlight and progressive neurological disturbances...
- The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cellsArnold D Bailey
Department of Biochemistry, School of Medicine, University of Washington, Seattle, WA 98195 7350, USA
DNA Repair (Amst) 11:488-501. 2012b>Cockayne syndrome is a segmental progeria most often caused by mutations in the CSB gene encoding a SWI/SNF-like ATPase required for transcription-coupled DNA repair (TCR)...
- Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cellsRebecca R Selzer
Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, 5600 Nathan Shock Drive, Baltimore, MD 21224 6825, USA
Nucleic Acids Res 30:782-93. 2002b>Cockayne syndrome (CS) is a rare inherited human genetic disorder characterized by UV sensitivity, developmental abnormalities and premature aging...
- Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cellsG Dianov
Laboratory of Molecular Genetics, National Institute on Aging, NIH, 5600 Nathan Shock Drive, Baltimore, MD 21224, USA
Nucleic Acids Res 27:1365-8. 1999The incision of the 8-oxoguanine in DNA by normal and Cockayne Syndrome (CS) cell extracts has been investigated...
- A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophyJ E Cleaver
UCSF Cancer Center and Department of Dermatology, University of California, San Francisco 94143 0808, USA
Hum Mutat 14:9-22. 1999The human diseases xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy are caused by mutations in a set of interacting gene products, which carry out the process of nucleotide excision repair...
- The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repairR M Brosh
Laboratory of Molecular Genetics, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA
Mol Biol Cell 10:3583-94. 1999b>Cockayne syndrome (CS) is a human genetic disorder characterized by UV sensitivity, developmental abnormalities, and premature aging...
- Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPGORLANDO D SCHARER
Department of Pharmacological Sciences, Stony Brook University, Stony Brook, NY 11974 3400, USA
DNA Repair (Amst) 7:339-44. 2008..in nucleotide excision repair (NER) are associated with three genetic disorders, xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD)...
- Impaired repair of ionizing radiation-induced DNA damage in Cockayne syndrome cellsPatricia Cramers
Department of Toxicogenetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC Leiden, The Netherlands
Radiat Res 175:432-43. 2011b>Cockayne syndrome (CS) cells are defective in transcription-coupled repair (TCR) and sensitive to oxidizing agents, including ionizing radiation...
- Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosumS Colella
Istituto di Genetica Biochimica ed Evoluzionistica CNR, Via Abbiategrasso, 207 27100 Pavia, Italy
Hum Mol Genet 9:1171-5. 2000Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are two hereditary disorders in which photosensitivity is associated with distinct clinical and cellular phenotypes and results from genetically different defects...
- Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and agingJ E Cleaver
Department of Dermatology and UCSF Cancer Center, University of California San Francisco, CA 94143 0808, USA
Mech Ageing Dev 129:492-7. 2008..specific pathways of DNA damage relevant to clinical outcomes; if naturally occurring reactive oxygen species are pathological in human repair deficient disease, would anti-oxidants or anti-apoptotic agents be feasible therapeutic agent?..
- Truncated Cockayne syndrome B protein represses elongation by RNA polymerase IAnton Lebedev
Department of Dermatology and Allergic Diseases, University of Ulm, Helmholtzstr 8 1, 89081 Ulm, Germany
J Mol Biol 382:266-74. 2008Mutations in the Cockayne syndrome B (CSB) gene result in the human form of Cockayne syndrome. CSB protein has been shown to be a component of RNA polymerase I (Pol I) transcription...
- XPG: its products and biological rolesORLANDO D SCHARER
Department of Pharmacological Sciences and Chemistry, Stony Brook University, Stony Brook, NY 11974 3400, USA
Adv Exp Med Biol 637:83-92. 2008..of XP-G patient is much more severely affected, displaying combined symptoms of xeroderma pigmentosum and Cockayne syndrome, referred to as XP/CS complex...
- Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of agingYork Kamenisch
Department of Dermatology, Eberhard Karls University, D 72076 Tuebingen, Germany
J Exp Med 207:379-90. 2010..may lead to tumors in xeroderma pigmentosum (XP) or to premature aging with loss of subcutaneous fat in Cockayne syndrome (CS)...
- Cockayne syndrome and xeroderma pigmentosumI Rapin
Department of Neurology, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY, USA
Neurology 55:1442-9. 2000To 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 ..
- DNA repair in mammalian cells: Transcription-coupled DNA repair: directing your effort where it's most neededS Tornaletti
Department of Anatomy and Cell Biology, University of Florida, Gainesville, Florida 32610, USA
Cell Mol Life Sci 66:1010-20. 2009..This article will review the recent literature on the subject with emphasis on how lesions affect the elongation step of transcription and how the initial steps of TCR occur in human cells. (Part of a Multi-author Review)...
- Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) proteinN Iyer
Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235, USA
Biochemistry 35:2157-67. 1996..interactions between TFIIH components, the human NER protein XPG, and the CSB protein which is implicated in Cockayne syndrome (CS). Our analyses demonstrate that the XPB, XPD, p44, and p62 proteins interact with each other...
- A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damageTiziana Nardo
Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, via Abbiategrasso 207, 27100 Pavia, Italy
Proc Natl Acad Sci U S A 106:6209-14. 2009..b>Cockayne syndrome (CS) is another genetic disorder with sun sensitivity and defective TC-NER, caused by mutations in the CSA ..
- Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegenerationKaren M Weidenheim
Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, United States
Mech Ageing Dev 130:619-36. 2009..growth and development failure, premature, accelerated, pathologic aging, and neurodegeneration characterize Cockayne syndrome (CS) and the cerebro-oculo-facial-skeletal and xeroderma pigmentosum/CS syndromes which overlap CS partially ..
- Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndromeD L Mallery
MRC Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom
Am J Hum Genet 62:77-85. 1998b>Cockayne syndrome is a multisystem sun-sensitive genetic disorder associated with a specific defect in the ability to perform transcription-coupled repair of active genes after UV irradiation...
- Isolation of XAB2 complex involved in pre-mRNA splicing, transcription, and transcription-coupled repairIsao Kuraoka
Laboratories for Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University, Suita, Osaka 565 0871, Japan
J Biol Chem 283:940-50. 2008..Moreover, XAB2 has been shown to interact with Cockayne syndrome group A and B proteins (CSA and CSB) and RNA polymerase II, as well as XPA, and is involved in TCR and ..
- Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. implications for Cockayne syndromeSung Keun Lee
Sealy Center for Molecular Science, University of Texas Medical Branch, 6 104 Blocker Medical Research Building, 11th and Mechanic Streets, Galveston, TX 77555, USA
Cell 109:823-34. 2002In addition to xeroderma pigmentosum, mutations in the human XPG gene cause early onset Cockayne syndrome (CS). Here, we provide evidence for the involvement of RAD2, the S...
- Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout miceY Lu
Department of Pathology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Mol Cell Biol 21:1810-8. 2001Cells isolated from individuals with Cockayne syndrome (CS) have a defect in transcription-coupled DNA repair, which rapidly corrects certain DNA lesions located on the transcribed strand of active genes...
- Accumulation of (5'S)-8,5'-cyclo-2'-deoxyadenosine in organs of Cockayne syndrome complementation group B gene knockout miceGuldal Kirkali
Chemical Science and Technology Laboratory, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA
DNA Repair (Amst) 8:274-8. 2009b>Cockayne syndrome (CS) is a human genetic disorder characterized by sensitivity to UV radiation, neurodegeneration, premature aging among other phenotypes...
- Cockayne syndrome: the expanding clinical and mutational spectrumVincent Laugel
Department of Pediatrics, Strasbourg Hautepierre University Hospital, Avenue Moliere, F 67098 Strasbourg, France
Mech Ageing Dev 134:161-70. 2013b>Cockayne syndrome is a progressive multisystem disorder characterized by a specific cellular defect in transcription-coupled repair...
- Conceptual developments in the causes of Cockayne syndromeJames E Cleaver
Department of Dermatology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143, USA
Mech Ageing Dev 134:284-90. 2013b>Cockayne syndrome is an autosomal recessive disease that covers a wide range of symptoms, from mild photosensitivity to severe neonatal lethal disorder...
- Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationshipK H Kraemer
DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Building 37 Room 4002 MSC 4258, Bethesda, MD 20892 4258, USA
Neuroscience 145:1388-96. 2007Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). The NER pathway involves at least 28 genes...
- Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndromeB C Broughton
MRC Cell Mutation Unit, University of Sussex, Falmer, Brighton, United Kingdom
Am J Hum Genet 56:167-74. 1995Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA damage...
- Repair of oxidatively generated DNA damage in Cockayne syndromeAndriy Khobta
Institute of Pharmacy and Biochemistry, University of Mainz, Staudingerweg 5, D 55099 Mainz, Germany
Mech Ageing Dev 134:253-60. 2013..DNA modifications and the resulting genetic instability can potentially explain the clinical symptoms of Cockayne syndrome (CS), a hereditary disease characterized by developmental defects and neurological degeneration...
- Interaction between the Cockayne syndrome B and p53 proteins: implications for agingMattia Frontini
Department of Haematology, University of Cambridge, CB2 0PT, Cambridge, United Kingdom
Aging (Albany NY) 4:89-97. 2012..CSB is very often found mutated in Cockayne syndrome, a segmental progeroid genetic disease characterized by organ degeneration and growth failure...
- Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndromeHuiwen Zhang
Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Eur J Med Genet 54:e389-93. 2011The Cockayne syndrome is a rare autosomal recessive disease characterized by a general developmental delay, the unique face, and abnormal skin sensitivity to sunlight...
- Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivityS Colella
Istituto di Genetica Biochimica ed Evoluzionistica CNR, via Abbiategrasso 207, 27100 Pavia, Italy
Hum Mol Genet 8:935-41. 1999b>Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, mental retardation and otherwise clinically heterogeneous features which commonly include cutaneous photosensitivity...
- Cockayne syndrome B protein regulates the transcriptional program after UV irradiationLuca Proietti-De-Santis
Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM, Illkirch, CU Strasbourg, France
EMBO J 25:1915-23. 2006The phenotype of the human genetic disorder Cockayne syndrome (CS) is not only due to DNA repair defect but also (and perhaps essentially) to a severe transcription initiation defect...
- CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitinationPaolo Latini
Unit of Molecular Genetics of Aging, DEB, University of Tuscia, Viterbo, Italy
Cell Cycle 10:3719-30. 2011Mutations in Cockayne syndrome (CS) A and B genes (CSA and CSB) result in a rare genetic disease that affects the development and homeostasis of a wide range of tissues and organs...
- Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndromeToshiki Itoh
Department of Pathology, The University of Iowa, Carver College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242, USA
J Dermatol Sci 41:87-96. 2006..These phenotypes are unique to XP-E because other XP groups show normal (XP-V) or hypersensitivity (XP-A, B, C, D, F, and G) to UV-irradiation. Thus XP-E is defined as a skin cancer prone disease with unique resistance to UV-irradiation...
- Defective repair of 5-hydroxy-2'-deoxycytidine in Cockayne syndrome cells and its complementation by Escherichia coli formamidopyrimidine DNA glycosylase and endonuclease IIIMara Foresta
Molecular Mutagenesis and DNA Repair, Istituto Nazionale Ricerca Cancro, 16132 Genova, Italy
Free Radic Biol Med 48:681-90. 2010..is inefficient in cells belonging to both complementation groups A and B of Cockayne syndrome (CS), a developmental and neurological disorder characterized by defective transcription-coupled repair...
- Enhancement of XPG mRNA expression by human interferon-beta in Cockayne syndrome cellsK Sugita
Department of Pediatrics, Faculty of Medicine, University of Chiba, Japan
Mutat Res 408:67-72. 1998..display, we have searched for genes expressed specially in human interferon (HuIFn)-beta-treated Cockayne syndrome (CS) fibroblast cells...
- Photosensitivity syndrome brings to light a new transcription-coupled DNA repair cofactorJames E Cleaver
Department of Dermatology, University of California, San Francisco, California, USA
Nat Genet 44:477-8. 2012....
- Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancyD I Zafeiriou
First Department of Pediatrics, Aristotle University of Thessaloniki, Greece
Pediatr Res 49:407-12. 2001..In cases suspected of having XP and/or early-onset Cockayne syndrome, extensive DNA repair studies should be performed to reach a correct diagnosis, thereby allowing reliable ..
- Cockayne syndrome: the developing phenotypeWen Hann Tan
Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 135:214-6. 2005b>Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration...
- Perioperative management of patients with Cockayne syndrome - recognition of accelerated aging with growth arrestSreekrishna Raghavendran
Paediatr Anaesth 18:360-1. 2008
- Cockayne syndrome in 2 siblingsHanan A Hamamy
National Center for Diabetes, Endocrinology and Genetics, Jordan University Hospital, Amman, Jordan
Saudi Med J 26:875-9. 2005b>Cockayne syndrome is a rare autosomal recessive condition characterized by growth failure and multisystem progressive degeneration...
- Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndromeTheo G M F Gorgels
Department of Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands
Mol Cell Biol 27:1433-41. 2007Mutations in the CSB gene cause Cockayne syndrome (CS), a DNA repair disorder characterized by UV sensitivity and severe physical and neurological impairment...
- RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62D Tantin
UCLA Molecular Biology Institute, Los Angeles, California 90095 1570, USA
J Biol Chem 273:27794-9. 1998..Genetic studies indicate that this transcription-coupled repair is dependent on the Cockayne syndrome group A and B proteins, as well as TFIIH subunits...
- Cockayne syndrome type A: novel mutations in eight typical patientsDebora R Bertola
Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, Sao Paulo, Brazil
J Hum Genet 51:701-5. 2006b>Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder. It is considered to be a heterogeneous condition based on complementation in cell fusion studies, with two major forms, namely CS-A and CS-B...
- [Cockayne syndrome]Xue Mei Wang
Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China
Zhongguo Dang Dai Er Ke Za Zhi 13:141-4. 2011b>Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis...
- Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndromeLuciana Nogueira de Sousa Andrade
School of Medicine, Department of Pediatrics Rady Children s Hospital San Diego, CA 92093, USA
Hum Mol Genet 21:3825-34. 2012b>Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6)...
- The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cellsKasper J Kyng
Laboratory of Molecular Gerontology, National Institute on Aging, 5600 Nathan Schock Drive, National Institute of Health, Baltimore, MD 21224, USA
Oncogene 22:1135-49. 2003b>Cockayne syndrome (CS) is a human hereditary disease belonging to the group of segmental progerias, and the clinical phenotype is characterized by postnatal growth failure, neurological dysfunction, cachetic dwarfism, photosensitivity, ..
- Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6Tzipora C Falik-Zaccai
Institute of Medical Genetics, Western Galilee Hospital, Nahariya, Israel
Am J Med Genet A 146:1423-9. 2008b>Cockayne syndrome (CS) (OMIM #133540) is a rare autosomal recessive disease characterized by severe growth and developmental retardation, progressive neurological dysfunction and symptoms of premature aging...
- Cockayne's syndrome: a case report. Literature reviewMaria de la Luz Arenas-Sordo
Servicio de Genetica, Instituto Nacional de Rehabilitación Secretaría de Salud
Med Oral Patol Oral Cir Bucal 11:E236-8. 2006..In the x-ray we observed congenital absence of 14, 23 and 24 teeth and mandibular hipoplasia. The aim of this review is to show the dentistry community the characteristics of the Cockayne s syndrome by means of a clinical case...
- Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other casesY Lindenbaum
Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Eur J Paediatr Neurol 5:225-42. 2001This is the first detailed description of the neuropathology of a patient with xeroderma pigmentosum/Cockayne syndrome complex (XP/CS)...
- Cockayne syndrome in adults: review with clinical and pathologic study of a new caseIsabelle Rapin
Albert Einstein College of Medicine, Bronx, NY 10461, USA
J Child Neurol 21:991-1006. 2006b>Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology...
- Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndromeTherina Theron
Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom
Mol Cell Biol 25:8368-78. 2005..xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS)...
- Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimersGraciela Spivak
Department of Biological Sciences, Stanford University, Stanford, CA 94305 5020, USA
DNA Repair (Amst) 1:629-43. 2002..hereditary DNA repair syndromes show that UV(S)S is distinct from all known xeroderma pigmentosum (XP) and Cockayne syndrome (CS) groups...
- Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB geneSatoru Hashimoto
J Invest Dermatol 128:1597-9. 2008
- Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndromeY Habraken
Sealy Center for Molecular Science, University of Texas Medical Branch, Galveston 77555 1061, USA
Proc Natl Acad Sci U S A 93:10718-22. 1996..nuclease is targeted to the DNA damage site and why mutations in the human RAD2 counterpart, XPG, result in Cockayne syndrome. Here we examine whether Rad2 is part of a higher order subassembly...
- UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cellsD B Bregman
Department of Pathology, Yale University School of Medicine, New Haven, CT 06520, USA
Proc Natl Acad Sci U S A 93:11586-90. 1996..UV-induced ubiquitination of Pol II LS is deficient in fibroblasts from individuals with two forms of Cockayne syndrome (CS-A and CS-B), a rare disorder in which TCR is disrupted...
- Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndromeIngrid van der Pluijm
Department of Genetics, Center for Biomedical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
PLoS Biol 5:e2. 2007b>Cockayne syndrome (CS) is a photosensitive, DNA repair disorder associated with progeria that is caused by a defect in the transcription-coupled repair subpathway of nucleotide excision repair (NER)...
- Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damageHarm de Waard
MGC, Department of Cell Biology and Genetics, Erasmus Medical Center, P O Box 1738, 3000 DR Rotterdam, The Netherlands
Mol Cell Biol 24:7941-8. 2004Mutations in the CSA and CSB genes cause Cockayne syndrome, a rare inherited disorder characterized by UV sensitivity, severe neurological abnormalities, and progeriod symptoms...
- A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG functionT Nouspikel
Department of Genetics and Microbiology, University Medical Centre CMU, Geneva 4, Switzerland
Proc Natl Acad Sci U S A 94:3116-21. 1997..Patients with Cockayne syndrome (CS), another rare sun-sensitive disorder, are specifically defective in the preferential removal of damage ..
- Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predispositionG T van der Horst
Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
Cell 89:425-35. 1997A mouse model for the nucleotide excision repair disorder Cockayne syndrome (CS) was generated by mimicking a truncation in the CSB(ERCC6) gene of a CS-B patient...
- Functional crosstalk between hOgg1 and the helicase domain of Cockayne syndrome group B proteinJingsheng Tuo
Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
DNA Repair (Amst) 1:913-27. 2002We have previously reported that the Cockayne syndrome group B gene product (CSB) contributes to base excision repair (BER) of 8-hydroxyguanine (8-OH-Gua) and the importance of motifs V and VI of the putative helicase domains of CSB in ..
- Mechanisms for Transcription-Coupled Repair in Human CellsPriscilla K Cooper; Fiscal Year: 2010..that inactivate these non-enzymatic functions result in the profound developmental and neurological disorder Cockayne syndrome (CS)...
- RNA Polymerase Transcription Past DNA AdductsDavid A Scicchitano; Fiscal Year: 2013..nucleotide excision repair and requires at least two additional proteins that are defective in the disease Cockayne syndrome. But the overlap of TCR with other DNA repair pathways such as base excision repair has not been ..
- Oxidative DNA damage processing;role in human pathology and agingPHILIP COURTLAND HANAWALT; Fiscal Year: 2013..The TCR-deficient diseases, Cockayne syndrome (CS) and UV-sensitive syndrome (UVSS), present indistinguishable biochemical responses to UV;UVSS patients ..
- R15 AREA: Replication in the Presence of Oxidative DNA damageJustin Courcelle; Fiscal Year: 2012..Parkinsons, Alzhiemers, amyotrophic lateral sclerosis, Friedreich's ataxia, Fanconi anemia, and Cockayne syndrome. In addition, there is increasing evidence to suggest that reactive oxygen species play a significant role ..
- Aging and the unstable epigenomeGerd P Pfeifer; Fiscal Year: 2013..In addition, we will analyze these marks in Cockayne syndrome cells, a premature aging syndrome...
- Molecular Mechanisms of Nitroarene ToxicityCarlos R de los Santos; Fiscal Year: 2013..Xeroderma Pigmentosum and Cockayne syndrome, two genetic diseases caused by NER deficiencies, are flagrant examples of the damaging consequences that ..
- Methods for generalized ontology terms enrichment analysisNigam Shah; Fiscal Year: 2013..g., Werner's syndrome, Cockayne syndrome, Burkitt's lymphoma, and Rothmund-Thomson Syndrome are all related by the fact that they share the same ..
- Tumorigenic Role of the CUL4A Ubiquitin LigasePengbo Zhou; Fiscal Year: 2013..and patient clinico-pathological information, and (3) we discovered a novel function of the Cockayne syndrome A (CSA) DNA repair protein in CUL4 (CUL4A and its family member CUL4B)- dependent degradation of ..
- Cockayne syndrome: role of the innate immune response in neurodegenerationAlan M Weiner; Fiscal Year: 2013..the causes and molecular mechanisms of a devastating childhood neurodevelopmental progeria known as Cockayne syndrome (CS)...
- FUNCTIONAL ANALYSIS OF RAD23 PROTEINKiran Madura; Fiscal Year: 2013..basis of nucleotide excision repair (NER), there is no cure for individuals with Xeroderma pigmentosum, Cockayne Syndrome, Fanconi Anemia, and other DNA repair defects...
- Basis for Distinct Functions of ATP-Dependent Chromatin Remodeling ComplexesHua ying Fan; Fiscal Year: 2012..The experiments outlined here focus on understanding how the CSB (Cockayne Syndrome complementation group B) chromatin remodeler modulates chromatin structure and how defects in this protein ..
- Structural Biology of XPB and XPD HelicasesJohn A Tainer; Fiscal Year: 2013..different phenotypes reflecting increased cancers or aging: xeroderma pigmentosum (XP), XP combined with Cockayne syndrome (CS), and trichothiodystrophy (TTD)...
- FASEB CONFERENCE: HELICASES: STRUCTURE, FUNCTIONSmita Patel; Fiscal Year: 2003..Recently it has been found that several inherited human diseases (e.g. Bloom syndrome, Werner syndrome, Cockayne syndrome and Xeroderma pigmentosum) are caused by defects in genes encoding specific helicases...
- Helicases: Structure, Function, & Roles in Human DiseaseSTEVEN MATSON; Fiscal Year: 2001..g. Bloom syndrome, Werner syndrome, Cockayne syndrome and Xeroderma pigmentosum) are caused by mutations in specific helicases...
- FASEB Summer Conference on Helicase and NTP-Driven Nucleic Acid Motors: StructureTimothy Lohman; Fiscal Year: 2007..g. Bloom syndrome, Werner syndrome, Cockayne syndrome and Xeroderma pigmentosum) are caused by defects in genes encoding specific helicases...
- EXCISION REPAIR OF UV IRRADIATED DNA IN YEASTSatya Prakash; Fiscal Year: 2001..and cs rad3 mutations (identical to mutations in the human XPDC gene, the RAD3 homolog, that cause Cockayne syndrome, CS), are defective in preferential repair of the transcribed DNA strand...
- Genomic Plasticity in the Human U2 snRNA ClusterAlan Weiner; Fiscal Year: 2006..is required for RNU2 metaphase fragility; all conditions that induce fragility also induce p53; loss of CSB (Cockayne Syndrome Group B protein), a putative transcription elongation factor required for transcription-coupled repair (TCR),..
- Coupling mRNA processing with transcription elongationSoojin Kim; Fiscal Year: 2007..Deregulation of transcription elongation is implicated in human diseases, such as in acute myeloid leukemia, Cockayne syndrome, and Von Hippel-Lindau disease, although the mechanism behind how altered transcription elongation ..
- FASEB RESEARCH CONFERENCE--MOLECULAR GERONTOLOGYS Jazwinski; Fiscal Year: 1999..We will hear about the molecular and biochemical studies in Werners syndrome, Cockayne syndrome and Bloom syndrome (Drs...
- Transcription coupled repair of oxidative DNA damageBRETT HALTIWANGER; Fiscal Year: 2003A number of genetic diseases, such as xeroderma pigmentosum and Cockayne syndrome involve defects in the processing of DNA damage...
- CONFERENCE--DNA DAMAGE EFFECTS ON STRUCTURESusan Wallace; Fiscal Year: 1993..in several human genetic diseases such as xeroderma pigmentosum, ataxia telangiectasia, Bloom's syndrome, Cockayne syndrome, Fanconi anemia, among others...
- Biological Role of XPG DNA Repair Protein Interactions with WRN and BLM HelicasesKELLY TREGO; Fiscal Year: 2009..functions of XPG lead to a severe neurological and developmental disorder with symptoms of premature aging, Cockayne syndrome (XP-G/CS)...
- CELL CYCLE REGULATION BY THE HPV ONCOPROTEIN E7Pradip Raychaudhuri; Fiscal Year: 2002..DDB possesses homology with the Cockayne syndrome protein GS-A, which is involved in transcription-coupled repair (TCR)...
- DNA Damage and Neurodegeneration in Cockayne SyndromeJames Cleaver; Fiscal Year: 2009b>Cockayne syndrome (CS) is a progressive childhood neurodegenerative disorder associated with a DNA repair defect. Two genes, CSA and CSB, are specifically involved in the CS disorder...
- The XP Variant: A Human Mutator Gene for UV DamageJames Cleaver; Fiscal Year: 2005..We will express hRad3O on the keratin 14 promoter for over-expression in the skin, and make targeted knockout of mRad3O in vivo to identify roles for hRad3O in promoting and preventing carcinogenesis. ..
- OXIDATIVE DNA DAMAGE, TRANSCRIPTION, REPAIR AND AGINGSusan Wallace; Fiscal Year: 2000..replicative senescence model system, human fetal lung fibroblasts, and fibroblasts obtained from Werner and Cockayne syndrome patients. Similar studies will be done in differentiated human neuronal cells in culture...
- DNA Damage Clusters: Repair in Mammalian CellsBetsy Sutherland; Fiscal Year: 2004..human diseases known to involve both radiation sensitivity and poor metabolism of oxidative damages, such as Cockayne syndrome and ataxia telangiectasia...
- DNA Interstrand Crosslinks, Cancer and AgingLaura Niedernhofer; Fiscal Year: 2007..The technique will be applied to wild type and ICL repair-defective Ercc1-/- cells to determine what proteins assemble specifically at sites of lCL damage and in what chronological order. ..
- DNA REPAIR AND ITS RELATIONSHIP TO CARCINOGENESISErrol Friedberg; Fiscal Year: 2001..of the human cancer-prone, hereditary repair-defective diseases xeroderma pigmentosum (XP) and the disease Cockayne syndrome (CS) which is believed to be defective in a transcription-dependent NER mode...
- Dietary Cancer Prevention in DNA Repair Deficient MiceLaura Niedernhofer; Fiscal Year: 2007..Finally, these experiments will reveal if ERCC1-XPF hypomorphic mice are a useful model for screening anti-oxidants that may reduce cancer risk. [unreadable] [unreadable] [unreadable]..
- DNA REPAIR AND CANCER PRONE HEREDITARY HUMAN DISEASEErrol Friedberg; Fiscal Year: 2002....
- MOUSE MODELS OF DNA REPAIR - DEFECTIVE HUMAN DISEASESErrol Friedberg; Fiscal Year: 2011..abstract_text> ..
- Coordination of the late steps of human nucleotide excision repairORLANDO D SCHARER; Fiscal Year: 2010..Since NER proteins also contribute to the resistance of tumor cells to anti-cancer agents our investigations may also provide new targets for anti- tumor therapy. ..
- Phase II study of cholic acid for hepatic steatosis in *Abhimanyu Garg; Fiscal Year: 2008..The effectiveness of cholic acid in reducing hepatic steatosis in humans remains unknown. [unreadable] [unreadable]..
- DNA Unwinding and Translocation by HelicasesKEVIN RANEY; Fiscal Year: 2007..Lastly, new methods will be developed to observe helicase translocation and unwinding directly in single molecule experiments. [unreadable] [unreadable]..
- Fetal DNA oxidation and repair in neurodegenerationPeter Wells; Fiscal Year: 2007..Oxoguanine glycosylase 1 (ogg1) knockout (BER-deficient) and Cockayne syndrome B (CSB) knockout (TCR-deficient) mice will be tested as repair-deficient models, while transgenic mice ..
- MOUSE MODELS OF DOWN SYNDROME: PHENOTYPIC MAPPINGCharles Epstein; Fiscal Year: 2002....
- MECHANISM OF HEPACIVIRUS REPLICASE ASSEMBLYKEVIN RANEY; Fiscal Year: 2003..This work will provide the initial step toward our long term goal of recapitulating HCV replication in vitro using biologically relevant proteins and RNA. ..
- MOLECULAR ANALYSIS OF TRANSCRIPTIONAL ADAPTORSLeonard Guarente; Fiscal Year: 2001..Finally, a possible link between this coactivator and TBP will be investigated genetically and biochemically. ..
- Transcription Coupled DNA Repair and Human DiseasePhilip Hanawalt; Fiscal Year: 2006..a deficiency in GGR is well-known to predispose to cancer, a defect in TCR, as in the hereditary disease Cockayne syndrome (CS), does not...
- 9th International Conference on Environmental MutagensPhilip Hanawalt; Fiscal Year: 2005..The new scientific information and insights from this Conference will be of importance to wise policy decisions to protect the public from significant environmental health hazards. ..
- GENETIC ANALYSIS OF NUCLEOTIDE EXCISION REPAIRLAWRENCE THOMPSON; Fiscal Year: 2002..These mechanistic insights will guide future structural studies on ERCC2. ..
- Transcription coupled DNA repair in E. ColiPhilip Hanawalt; Fiscal Year: 2006..Gene expression profiles during thymine deprivation will be assessed by microarrays. The results of these experiments are relevant to an understanding of the adverse consequences of folate deprivation in humans. ..
- FANCONI ANEMIA GENE PATHWAY IN RADIATION RESPONSESLAWRENCE THOMPSON; Fiscal Year: 2004..The results of these studies will lead to more specific models of the nature of the FA protein "pathway" and its quantitative contributions to multiple biological effects associated with IR-mediated oxidative damage. ..
- Homologous Recombination & Human Cell RadiosensitivityLAWRENCE THOMPSON; Fiscal Year: 2009..These integrated studies may lead to a more rational basis for cancer radiotherapy and bring'insights into how HRR prevents the initiation of carcihogenesis by endogenous processes and exogenous agents. ..
- HCV NS3: Biological, Biochemical and Structural AnalysisKEVIN RANEY; Fiscal Year: 2006..We have found that NS5A binds tightly to RNA and to NS5B. We will now examine possible functional interactions between NS5A, NS3, and NS5B and attempt to solve the crystal structure of NS5A. ..
- Role of transcription in genomic stabilityPhilip Hanawalt; Fiscal Year: 2008..abstract_text> ..
- Novel Therapies for Metabolic Complications in Patients with LipodystrophiesAbhimanyu Garg; Fiscal Year: 2010..Additionally, the findings may be applicable to treating metabolic complications in patients with obesity and type 2 diabetes. ..
- MECHANISMS OF LIPODYSTROPHY IN HIV INFECTED PATIENTSAbhimanyu Garg; Fiscal Year: 2002..Additionally, the study may prove effectiveness and reduced toxicity of alternative antiretroviral regimens without a PI. ..
- Therapeutic Approaches to HAART-Induced LipodystrophyAbhimanyu Garg; Fiscal Year: 2006..Additionally, the study may help prevent these problems in HIV-infected patients being initiated on PI-containing HAART. ..
- AGE RELATED DEGENERATIONCharles Epstein; Fiscal Year: 2002....
- REGULATION OF P53 STABILITY BY SER315 PHOSPHORYLATIONMats Ljungman; Fiscal Year: 2002..We will express wild-type or mutant CDC14 in MCF7 cells and study what effect it will have on basal and induced levels of p53. ..