Results 21 to 30 of about 4,495 (156)

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, V, Laugel, M, Durand, H, Fothergill, C, Dalloz, F, Sauvanaud, H, Dollfus, I J, Namer, J-L, Dietemann   +8 more
openaire   +2 more sources

Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome

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, Pallab Maity, Philipp Ralf Esser, Ioanna Krikki, Francesca Tuorto, Rosanna Parlato, Marianna Penzo, Adrian Schelling, Vincent Laugel, Lorenzo Montanaro, Karin Scharffetter-Kochanek, Sebastian Iben   +11 more
doaj   +1 more source

The sequence-specific transcription factor c-Jun targets Cockayne syndrome protein B to regulate transcription and chromatin structure. [PDF]

PLoS Genetics, 2014
Cockayne syndrome is an inherited premature aging disease associated with numerous developmental and neurological defects, and mutations in the gene encoding the CSB protein account for the majority of Cockayne syndrome cases.
Robert J Lake, Erica L Boetefuer, Pei-Fang Tsai, Jieun Jeong, Inchan Choi, Kyoung-Jae Won, Hua-Ying Fan   +6 more
doaj   +1 more source

Rat Model of Cockayne Syndrome Neurological Disease

Cell Reports, 2019
Summary: Cockayne syndrome (CS) is a rare genetic neurodevelopmental disorder, characterized by a deficiency in transcription-coupled subpathway of nucleotide excision DNA repair (TC-NER).
Yingying Xu, Zhenzhen Wu, Lingyun Liu, Jiena Liu, Yuming Wang   +4 more
doaj   +1 more source

ATP-dependent chromatin remodeling by Cockayne syndrome protein B and NAP1-like histone chaperones is required for efficient transcription-coupled DNA repair. [PDF]

PLoS Genetics, 2013
The Cockayne syndrome complementation group B (CSB) protein is essential for transcription-coupled DNA repair, and mutations in CSB are associated with Cockayne syndrome--a devastating disease with complex clinical features, including the appearance of ...
Iltaeg Cho, Pei-Fang Tsai, Robert J Lake, Asjad Basheer, Hua-Ying Fan   +4 more
doaj   +1 more source

A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients.

PLoS ONE, 2022
Nucleotide Excision Repair is one of the five DNA repair systems. More than 30 proteins are involved in this process, including the seven XP proteins. When mutated, the genes coding for these proteins are provoking the rare disease Xeroderma Pigmentosum,
Florent Taupelet, Lise-Marie Donnio, Charlène Magnani, Pierre-Olivier Mari, Giuseppina Giglia-Mari   +4 more
doaj   +1 more source

[Cockayne syndrome]. [PDF]

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2011
Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years.
Xue-Mei, Wang, Yun-Pu, Cui, Yun-Feng, Liu, Ling, Wei, Hui, Liu, Xin-Li, Wang, Zhuo-Zhao, Zheng   +6 more
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Cockayne syndrome group A protein localizes at centrosomes during mitosis and regulates Cyclin B1 ubiquitination

European Journal of Cell Biology, 2023
Mutations in CSA and CSB proteins cause Cockayne syndrome, a rare genetic neurodevelopment disorder. Alongside their demonstrated roles in DNA repair and transcription, these two proteins have recently been discovered to regulate cytokinesis, the final ...
Elena Paccosi, Giulia Artemi, Silvia Filippi, Alessio Balzerano, Federico Costanzo, Valentina Laghezza-Masci, Silvia Proietti, Luca Proietti-De-Santis   +7 more
doaj   +1 more source

The ATRX splicing variant c.21-1G>A is asymptomatic

Human Genome Variation, 2022
The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected.
Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F. Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata   +7 more
doaj   +1 more source

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Orphanet Journal of Rare Diseases, 2011
Background Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract ...
Elsobky Ezzat S, Abdel Ghaffar Tawhida Y, Elsayed Solaf M   +2 more
doaj   +1 more source