|
Cockayne Syndrome
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Premature aging defects in CS-MSCs are rescued by the targeted correction of mutant ERCC6.
|
31037510 |
2020 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Multisystem analyses of two Cockayne syndrome associated proteins CSA and CSB reveal shared and unique functions.
|
31546172 |
2019 |
|
Cockayne Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
CSB depletion promotes overexpression of the HTRA3 protease resulting in mitochondrial impairments, which are causally linked to CS pathological phenotypes.
|
31811121 |
2019 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the Cockayne syndrome B (CSB) gene affects basal transcription, which is considered a major cause of CS neurologic dysfunction.
|
31644904 |
2019 |
|
Cockayne Syndrome
|
0.900 |
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 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Homozygous missense variant in the ERCC6 gene (Excision Repair Cross-Complementation group 6) was found, compatible with CS complementation group B.
|
29649050 |
2018 |
|
Cockayne Syndrome
|
0.900 |
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.
|
29625109 |
2018 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.
|
30113454 |
2018 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in the TC-NER genes CSA and CSB lead to severe postnatal developmental defects in Cockayne syndrome patients.
|
29788264 |
2018 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases.
|
28440418 |
2017 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is caused by mutations in CSA and CSB.
|
29225035 |
2017 |
|
Cockayne Syndrome
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
|
27186691 |
2017 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Cockayne syndrome complementation group B (CSB) protein coded by ERCC6 is a vital component for NER.
|
27231489 |
2016 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Collectively, our work reveals that CSB is required for normal neuronal function and we have established an alternative to previously available models to further study neural-specific aspects of CS.
|
26755826 |
2016 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation.
|
26972010 |
2016 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Based on our observations, we propose that further investigation of the pathogenic mechanisms underlying Cockayne syndrome should focus on the effect of antimorphic rather than null ERCC6 (CSB) mutations.
|
26749132 |
2016 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
Cockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice.
|
25762674 |
2015 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Importantly, reprogramming of CS fibroblasts to neuron-like cells is defective unless an exogenous CSB gene is introduced.
|
25249633 |
2014 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The present report describes a case of Cockayne syndrome in a Chinese family, with the patients carrying two missense mutations (c.1595A>G, p.Asp532Gly and c.1607T>G, p.Leu536Trp) in the ERCC6 gene in an apparently compound heterozygote status, especially, p.Asp532Gly has never been reported.
|
25463447 |
2014 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We describe a new splicing ERCC6 defect causal of Cockayne syndrome.
|
25376329 |
2014 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
Cockayne syndrome (CS) is an accelerated aging disorder characterized by progressive neurodegeneration caused by mutations in genes encoding the DNA repair proteins CS group A or B (CSA or CSB).
|
25440059 |
2014 |
|
Cockayne Syndrome
|
0.900 |
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 |