ATP-Dependent Chromatin Remodeler CSB Couples DNA Repair Pathways to Transcription with Implications for Cockayne Syndrome and Cancer Therapy [PDF]
CellsEfficient DNA lesion repair is crucial for cell survival, especially within actively transcribed DNA regions that contain essential genetic information.
Rabeya Bilkis +2 more
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Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism [PDF]
CellsCockayne syndrome (CS) is a rare hereditary autosomal recessive disorder primarily caused by mutations in Cockayne syndrome protein A (CSA) or B (CSB). While many of the functions of CSB have been at least partially elucidated, little is known about the ...
Leon-Phillip Szepanowski +6 more
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Xeroderma pigmentosum-Cockayne syndrome complex [PDF]
Orphanet Journal of Rare Diseases, 2017 Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature.
Valerie Natale, Hayley Raquer
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A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 [PDF]
Human Genome VariationCockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a
Taro Matsuoka +8 more
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Diagnostic and severity scores for Cockayne syndrome [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from severe prenatal onset to mild adult-
M. A. Spitz +6 more
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Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder [PDF]
Journal of Movement Disorders, 2022 Cockayne syndrome (CS) is a rare progeroid disorder characterized by multisystem degeneration, including neurological dysfunction, for which deep brain stimulation (DBS) is a proposed treatment.
Joseph S. Domino +2 more
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Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging [PDF]
CellsCockayne syndrome (CS) is a rare autosomal recessive disorder that affects the DNA repair process. It is a progeroid syndrome predisposing patients to accelerated aging and to increased susceptibility to respiratory infections.
Khouloud Zayoud +10 more
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Mitochondrial deficiency in Cockayne syndrome [PDF]
Mechanisms of Ageing and Development, 2013 Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies are believed to be important in the aging process.
Morten Scheibye‐Knudsen +2 more
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Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross‐complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutated in CS ...
Jennifer Friedman +9 more
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Вопросы современной педиатрииCockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG ...
Anastasiya L. Kungurtseva +1 more
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