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1,658 results

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Xeroderma pigmentosum-Cockayne syndrome complex.
Natale V, Raquer H. Natale V, et al. Orphanet J Rare Dis. 2017 Apr 4;12(1):65. doi: 10.1186/s13023-017-0616-2. Orphanet J Rare Dis. 2017. PMID: 28376890 Free PMC article. Review.
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). ...We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the …
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, …
[Cockayne Syndrome].
Moriwaki S. Moriwaki S. Brain Nerve. 2019 Apr;71(4):390-393. doi: 10.11477/mf.1416201282. Brain Nerve. 2019. PMID: 30988227 Japanese.
Cockayne syndrome (CS) is an autosomal recessive disorder characterized by severe photosensitive genodermatosis that is associated with premature aging caused by defects in the UV-induced DNA damage repair system, particularly the transcription-coupled nucleotide ex …
Cockayne syndrome (CS) is an autosomal recessive disorder characterized by severe photosensitive genodermatosis that is associ …
Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?
Afonso-Reis R, Madeira CR, Brito DVC, Nóbrega C. Afonso-Reis R, et al. Aging Cell. 2025 Jul;24(7):e70136. doi: 10.1111/acel.70136. Epub 2025 Jun 19. Aging Cell. 2025. PMID: 40536083 Free PMC article. Review.
Cockayne Syndrome (CS) is an autosomal recessive disorder arising from mutations in either of two disease-associated genes, ERCC6 or ERCC8. ...Approximately 70% of all CS cases carry ERCC6 mutations; therefore, this review will focus solely on Cockayne Syn …
Cockayne Syndrome (CS) is an autosomal recessive disorder arising from mutations in either of two disease-associated genes, ER …
Cockayne Syndrome Group B (CSB): The Regulatory Framework Governing the Multifunctional Protein and Its Plausible Role in Cancer.
Spyropoulou Z, Papaspyropoulos A, Lagopati N, Myrianthopoulos V, Georgakilas AG, Fousteri M, Kotsinas A, Gorgoulis VG. Spyropoulou Z, et al. Cells. 2021 Apr 10;10(4):866. doi: 10.3390/cells10040866. Cells. 2021. PMID: 33920220 Free PMC article. Review.
Cockayne syndrome (CS) is a DNA repair syndrome characterized by a broad spectrum of clinical manifestations such as neurodegeneration, premature aging, developmental impairment, photosensitivity and other symptoms. Mutations in Cockayne syndrome …
Cockayne syndrome (CS) is a DNA repair syndrome characterized by a broad spectrum of clinical manifestations such as ne …
Cockayne syndrome: Clinical features, model systems and pathways.
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Karikkineth AC, et al. Ageing Res Rev. 2017 Jan;33:3-17. doi: 10.1016/j.arr.2016.08.002. Epub 2016 Aug 6. Ageing Res Rev. 2017. PMID: 27507608 Free PMC article. Review.
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambula …
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neur …
Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation.
Zhang X, Xu J, Hu J, Zhang S, Hao Y, Zhang D, Qian H, Wang D, Fu XD. Zhang X, et al. Nat Commun. 2024 Jul 17;15(1):6031. doi: 10.1038/s41467-024-50298-w. Nat Commun. 2024. PMID: 39019869 Free PMC article.
Mutations in the Cockayne Syndrome group B (CSB) gene cause cancer in mice, but premature aging and severe neurodevelopmental defects in humans. ...These findings provide mechanistic insights into differential impacts of CSB deficiency on mice versus humans and sugg …
Mutations in the Cockayne Syndrome group B (CSB) gene cause cancer in mice, but premature aging and severe neurodevelopmental …
Role of Cockayne Syndrome Group B Protein in Replication Stress: Implications for Cancer Therapy.
Walker JR, Zhu XD. Walker JR, et al. Int J Mol Sci. 2022 Sep 6;23(18):10212. doi: 10.3390/ijms231810212. Int J Mol Sci. 2022. PMID: 36142121 Free PMC article. Review.
Under certain conditions, however, the attempted repair may lead to additional genetic instability. Cockayne syndrome group B (CSB) protein, a SNF2 chromatin remodeler best known for its role in transcription-coupled nucleotide excision repair, has recently been sho …
Under certain conditions, however, the attempted repair may lead to additional genetic instability. Cockayne syndrome group B …
Cockayne syndrome.
Levinson ED, Zimmerman AW, Grunnet ML, Lewis RA, Spackman TJ. Levinson ED, et al. J Comput Assist Tomogr. 1982 Dec;6(6):1172-4. doi: 10.1097/00004728-198212000-00020. J Comput Assist Tomogr. 1982. PMID: 7174933
The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and …
The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth def …
Xeroderma pigmentosum-Cockayne syndrome complex.
Dev N, Aggarwal P. Dev N, et al. Indian J Med Res. 2020 Nov;152(Suppl 1):S74-S75. doi: 10.4103/ijmr.IJMR_2097_19. Indian J Med Res. 2020. PMID: 35345132 Free PMC article. No abstract available.
Cockayne syndrome pathogenesis: lessons from mouse models.
Jaarsma D, van der Pluijm I, van der Horst GT, Hoeijmakers JH. Jaarsma D, et al. Mech Ageing Dev. 2013 May-Jun;134(5-6):180-95. doi: 10.1016/j.mad.2013.04.003. Epub 2013 Apr 13. Mech Ageing Dev. 2013. PMID: 23591128 Review.
Cockayne syndrome (CS) is a rare multisystem disorder characterized by cachectic dwarfism, nervous system abnormalities and features of premature aging. ...A spectrum of mild-to-severe CS-like symptoms occurs in Xpb, Xpd, and Xpg mice that genetically mimic patients …
Cockayne syndrome (CS) is a rare multisystem disorder characterized by cachectic dwarfism, nervous system abnormalities and fe …
1,658 results