|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cockayne Syndrome (CS) is a severe neurodegenerative and premature aging autosomal-recessive disease, caused by inherited defects in the CSA and CSB genes, leading to defects in transcription-coupled nucleotide excision repair (TC-NER) and consequently hypersensitivity to ultraviolet (UV) irradiation.
|
31722399 |
2020 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CSA and CSB genes are causative of Cockayne syndrome neurological disorder.
|
31546172 |
2019 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, we uncover CSA as a TRiC substrate and reveal that TRiC regulates CSA-dependent TC-NER and the development of CS.
|
29531219 |
2018 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is caused by mutations in CSA and CSB.
|
29225035 |
2017 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP).
|
27507608 |
2017 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four patients showed biallelic mutations in the ERCC6(CSB) gene, five in the ERCC8(CSA) gene: most of them had classical CS features but some had very mild and incomplete phenotypes.
|
27004399 |
2016 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Cockayne syndrome A (CSA) protein account for 20% of Cockayne syndrome (CS) cases, a childhood disorder of premature aging and early death.
|
24781187 |
2014 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of CSA or CSB responsible for impaired transcription-coupled repair cause Cockayne syndrome (CS).
|
23622385 |
2013 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is a rare autosomal recessive disease with progeroid symptoms, which is caused mainly by mutations in the CS genes CSA and CSB.
|
23562423 |
2013 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies.
|
23311583 |
2013 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Cockayne syndrome (CS) A and B genes (CSA and CSB) result in a rare genetic disease that affects the development and homeostasis of a wide range of tissues and organs.
|
22032989 |
2011 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deficiency in TC-NER associates with mutations in the CSA and CSB genes giving rise to the rare human disorder Cockayne syndrome (CS).
|
21622031 |
2011 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Expression of the p.trp361cys-mutated CSA cDNA increases the resistance of cells from a CS-A patient to oxidative stress, but does not correct their UV hypersensitivity.
|
19329487 |
2009 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is mainly caused by mutations in the Cockayne syndrome group A or B (CSA or CSB) genes which are required for a sub-pathway of nucleotide excision repair entitled transcription coupled repair.
|
17084038 |
2007 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is a progressive childhood neurodegenerative disorder associated with a DNA repair defect caused by mutations in either of two genes, CSA and CSB.
|
17055654 |
2007 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome.
|
16751180 |
2006 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation of CSB, CSA, or the TFIIH helicases XPB and XPD can also cause defective TCR and CS.
|
16246722 |
2005 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that multiple splicing variant forms of CSA mRNA, in the absence of the full-length form of the mRNA, are associated with CS.
|
15211661 |
2004 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings not only uncover a clear difference in oxidative DNA damage sensitivity between CSA- and CSB-deficient cell lines and mice but also show that sensitivity to oxidative DNA damage is not a uniform characteristic of Cockayne syndrome.
|
15340056 |
2004 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The devastating genetic disorder Cockayne syndrome (CS) arises from mutations in the CSA and CSB genes.
|
14639525 |
2003 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The CSA and CSB genes responsible for CS are both components of complexes associated with RNA polymerase II and their role is thought to be in assisting polII in dealing with transcription blocks.
|
14726016 |
2003 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Cockayne syndrome (CS) is a segmental premature aging syndrome in humans that has two complementation groups, CSA and CSB.
|
12483520 |
2002 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The predicted structures for ALDP and CSA, proteins responsible for adrenoleukodystrophy and the Cockayne syndrome, respectively, were analyzed to elucidate the molecular basis of disease mutations.
|
11898854 |
2001 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The abnormalities in CS are associated with mutations in the CSA or CSB genes.
|
10739753 |
2000 |