Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship
- 1 February 2007
- journal article
- review article
- Published by Elsevier BV in Neuroscience
- Vol. 145 (4), 1388-1396
- https://doi.org/10.1016/j.neuroscience.2006.12.020
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Structural and Molecular Hair Abnormalities in TrichothiodystrophyJournal of Investigative Dermatology, 2006
- RETRACTED: Cockayne Syndrome A and B Proteins Differentially Regulate Recruitment of Chromatin Remodeling and Repair Factors to Stalled RNA Polymerase II In VivoMolecular Cell, 2006
- Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophyJournal of the American Academy of Dermatology, 2005
- From proteomics to diseaseNature Genetics, 2004
- The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cellsOncogene, 2003
- The Oxidative DNA Lesion 8,5′-(S)-Cyclo-2′-deoxyadenosine Is Repaired by the Nucleotide Excision Repair Pathway and Blocks Gene Expression in Mammalian CellsJournal of Biological Chemistry, 2000
- Clinically Asymptomatic Xeroderma pigmentosum Neurological Disease in an Adult: Evidence for a Neurodegeneration in Later Life Caused by Defective DNA RepairEuropean Neurology, 1993
- Cockayne syndrome: Review of 140 casesAmerican Journal of Medical Genetics, 1992
- Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published casesArchives of Dermatology, 1987
- Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complexArchives of Dermatology, 1980