UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. [PDF]
David B. Bregman+5 more
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Reduced RNA polymerase II transcription in extracts of Cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells [PDF]
Grigory L. Dianov+4 more
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Occupational Therapy in Cockayne Syndrome: A Case Report
Introduction: Cockayne syndrome is a rare and autosomal recessive neurodevelopmental disorder characterized by symptoms such as progressive neurological disorder, photosensitivity, visual disturbances, microcephaly, premature aging, and birdlike nose ...
Marzieh Pashmdarfard
doaj
B Lymphocytes of Xeroderma Pigmentosum or Cockayne Syndrome Patients with Inherited Defects in Nucleotide Excision Repair Are Fully Capable of Somatic Hypermutation of Immunoglobulin Genes [PDF]
N. Kim+4 more
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Activation of p53 or Loss of the Cockayne Syndrome Group B Repair Protein Causes Metaphase Fragility of Human U1, U2, and 5S Genes [PDF]
Adong Yu+4 more
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Congenital dysplastic hips, spinal column abnormalities, fractures and progressive neurological manifestations in Tunisian family with cockayne syndrome [PDF]
We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of ...
Al-Kaissi, Ali+4 more
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Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study
We report two brothers of Cockayne syndrome (CS) with progressive growth retardation, microcephaly, bird headed facies with sunken eyes, cutaneous photosensitivity, retinits pigmentosa, sensorineural deafness, spasticity ataxia, neuropathy and ...
Ashraff V V+5 more
doaj
Molecular characterization of an acidic region deletion mutant of Cockayne syndrome group B protein [PDF]
Morten Sunesen
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Xeroderma Pigmentosum Group G with Severe Neurological Involvement and Features of Cockayne Syndrome in Infancy [PDF]
Dimitrios Zafeiriou+8 more
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Translocation of Cockayne syndrome group A protein to the nuclear matrix: Possible relevance to transcription-coupled DNA repair [PDF]
Shinya Kamiuchi+5 more
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