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Cockayne Syndrome
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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.
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31722399 |
2020 |
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Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Multisystem analyses of two Cockayne syndrome associated proteins CSA and CSB reveal shared and unique functions.
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31546172 |
2019 |
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Cockayne Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
CSB depletion promotes overexpression of the HTRA3 protease resulting in mitochondrial impairments, which are causally linked to CS pathological phenotypes.
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31811121 |
2019 |
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Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the Cockayne syndrome B (CSB) gene affects basal transcription, which is considered a major cause of CS neurologic dysfunction.
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31644904 |
2019 |
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Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The Cockayne syndrome group B (CSB) gene is one gene responsible for CS and also causes UV sensitive syndrome (UV<sup>S</sup>S), a disorder that causes mild symptoms.
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29625109 |
2018 |
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Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in the TC-NER genes CSA and CSB lead to severe postnatal developmental defects in Cockayne syndrome patients.
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29788264 |
2018 |
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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.
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29531219 |
2018 |
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Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
No inter-coordination between the subnuclear localization of CSA and CSB was observed, implying that this aspect does not underlie the clinical features of CS.
|
30504782 |
2018 |
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Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is caused by mutations in CSA and CSB.
|
29225035 |
2017 |
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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).
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27507608 |
2017 |
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Cockayne Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Cockayne syndrome complementation group B (CSB) protein coded by ERCC6 is a vital component for NER.
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27231489 |
2016 |
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Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report novel missense mutations affecting a conserved loop in the ERCC6 (CSB) protein, associated with the Cockayne syndrome phenotype.
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26749132 |
2016 |
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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.
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27004399 |
2016 |
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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 |
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Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Importantly, reprogramming of CS fibroblasts to neuron-like cells is defective unless an exogenous CSB gene is introduced.
|
25249633 |
2014 |
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Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like syndrome with joint contractures, cataracts, and early death.
|
23622385 |
2013 |
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Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mice deficient for Csa or Csb genetically mimic CS in man, and develop mild CS symptoms including reduced fat tissue, photoreceptor cell loss, and mild, but characteristic, nervous system pathology.
|
23591128 |
2013 |
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Cockayne Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
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 premature aging, sun sensitivity, and numerous neurological and developmental defects.
|
23637612 |
2013 |
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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 |
AlteredExpression
|
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 |
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Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Cockayne syndrome groups A and B genes (CSA and CSB) result in defective TC-NER.
|
23571135 |
2013 |
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Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Two Cockayne syndrome (CS) complementation group proteins, CSA and CSB, are important for TCR repair.
|
22902626 |
2012 |
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Cockayne Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The Cockayne syndrome complementation group B (CSB) protein is an ATP-dependent chromatin remodeler with an essential function in transcription-coupled DNA repair, and mutations in the CSB gene are associated with Cockayne syndrome.
|
21852235 |
2011 |
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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 |
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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 |