Pseudopapilledema in Cockayne syndrome [PDF]
American Journal of Ophthalmology Case Reports, 2021 Purpose: This report describes pseudopapilledema in two siblings with Cockayne syndrome and examines a structural mechanism for its development. Observations: Two siblings with genetically documented Cockayne syndrome, enophthalmos, and hyperopia were ...
Michael C. Brodsky, Deborah L. Renaud
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Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome [PDF]
Cell Reports, 2018 Summary: Retarded growth and neurodegeneration are hallmarks of the premature aging disease Cockayne syndrome (CS). Cockayne syndrome proteins take part in the key step of ribosomal biogenesis, transcription of RNA polymerase I.
Marius Costel Alupei +11 more
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Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome [PDF]
Human Genome Variation, 2022 We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years.
Nguyen Thuy Duong +6 more
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Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome [PDF]
, 2005 Defects in the XPD gene can result in several clinical phenotypes, including xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS).
Therina Theron +12 more
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The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex [PDF]
, 1997 Transcription-coupled repair (TCR), a subpathway of nucleotide excision repair (NER) defective in Cockayne syndrome A and B (CSA and CSB), is responsible for the preferential removal of DNA lesions from the transcribed strand of active genes, permitting ...
Alain J. van Gool +8 more
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The many faces of Cockayne syndrome [PDF]
Proceedings of the National Academy of Sciences, 2004 The challenges intrinsic to the maintenance of genetic information are revealed when one surveys the growing list of human disorders caused by defects in the repair of damage to DNA. Although these diseases are extremely rare, their effects are often devastating for patients and their families.
Graciela Spivak
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A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome [PDF]
, 2009 We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Elizabeth Forsythe +5 more
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Neuroimaging In Cockayne Syndrome [PDF]
American Journal of Neuroradiology, 2010 CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases ...
M. Koob +8 more
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Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B [PDF]
Frontiers in Genetics, 2022 Cockayne syndrome is a rare condition that encompasses a very wide spectrum of clinical severity. Mutations upstream of a transposon called PiggyBac Transposable Element Derived 3 in intron 5 of the CSB/ERCC6 gene could bring about less severe forms than
Rayanne Damaj-Fourcade +8 more
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