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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1958 2
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1963 5
1964 2
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1967 3
1968 1
1969 5
1970 4
1971 3
1972 4
1973 7
1974 2
1975 1
1976 4
1977 6
1978 13
1979 7
1980 9
1981 17
1982 25
1983 18
1984 11
1985 11
1986 23
1987 16
1988 15
1989 12
1990 15
1991 26
1992 24
1993 24
1994 34
1995 27
1996 50
1997 49
1998 37
1999 43
2000 51
2001 58
2002 49
2003 37
2004 25
2005 43
2006 52
2007 46
2008 54
2009 37
2010 43
2011 46
2012 50
2013 59
2014 55
2015 47
2016 44
2017 32
2018 49
2019 38
2020 45
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2022 43
2023 39
2024 47

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1,592 results

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Page 1
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 …
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 …
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.
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 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 …
Cockayne syndrome and xeroderma pigmentosum.
Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH. Rapin I, et al. Neurology. 2000 Nov 28;55(10):1442-9. doi: 10.1212/wnl.55.10.1442. Neurology. 2000. PMID: 11185579 Free PMC article. Review.
OBJECTIVES: To review genetic variants of Cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders of DNA repair that affect the nervous system, and to illustrate them by the first case of xeroderma pigmentosum-Cockayne syndrome …
OBJECTIVES: To review genetic variants of Cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders …
Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants.
Duong NT, Dinh TH, Möhl BS, Hintze S, Quynh DH, Ha DTT, Ngoc ND, Dung VC, Miyake N, Hai NV, Matsumoto N, Meinke P. Duong NT, et al. Aging (Albany NY). 2022 Jun 22;14(13):5299-5310. doi: 10.18632/aging.204139. Epub 2022 Jun 22. Aging (Albany NY). 2022. PMID: 35748794 Free PMC article.
Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic ERCC8 (CS-A) or ERCC6 (CS-B) variants. In this study we describe siblings suffering from classical …
Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and prema …
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 …
Cockayne syndrome: the expanding clinical and mutational spectrum.
Laugel V. Laugel V. Mech Ageing Dev. 2013 May-Jun;134(5-6):161-70. doi: 10.1016/j.mad.2013.02.006. Epub 2013 Feb 18. Mech Ageing Dev. 2013. PMID: 23428416 Review.
Cockayne syndrome is a progressive multisystem disorder characterized by a specific cellular defect in transcription-coupled repair. ...At the opposite end of the scale, the most severely affected patients, showing a prenatal onset of the symptoms, are overlapping w …
Cockayne syndrome is a progressive multisystem disorder characterized by a specific cellular defect in transcription-coupled r …
1,592 results

Searches related to "cockayne syndrome"