|
Cockayne Syndrome
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CSA and CSB genes are causative of Cockayne syndrome neurological disorder.
|
31546172 |
2019 |
|
Cockayne Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.
|
29422660 |
2018 |
|
Cockayne Syndrome
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we present c.1053delT in ERCC8 gene in an Iranian family with symptom of CS using whole exome sequencing.
|
30039856 |
2018 |
|
Cockayne Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.
|
30200888 |
2018 |
|
Cockayne Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is caused by mutations in CSA and CSB.
|
29225035 |
2017 |
|
Cockayne Syndrome
|
0.800 |
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
|
28333167 |
2017 |
|
Cockayne Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although Cockayne syndrome is considered a DNA repair disorder, patients with UV-sensitive syndrome, with ERCC8 (CSA) or ERCC6 (CSB) mutations have indistinguishable DNA repair defects, but none of the extradermal features of Cockayne syndrome.
|
26749132 |
2016 |
|
Cockayne Syndrome
|
0.800 |
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
|
0.800 |
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
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
|
Cockayne Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.
|
26173784 |
2015 |
|
Cockayne Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a Chinese female child with CS caused by deletions of exon 4 of ERCC8 on one chromosome and exons 1-12 on the other chromosome.
|
26210811 |
2015 |
|
Cockayne Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the ERCC6 and ERCC8 genes are the predominant cause of Cockayne syndrome, and the ERCC6 gene mutation is present in approximately 65% of cases.
|
25463447 |
2014 |
|
Cockayne Syndrome
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB).
|
23623389 |
2013 |
|
Cockayne Syndrome
|
0.800 |
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of CSA or CSB responsible for impaired transcription-coupled repair cause Cockayne syndrome (CS).
|
23622385 |
2013 |
|
Cockayne Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
|
22466610 |
2012 |
|
Cockayne Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
UV(S)S comprises three groups, UV(S)S/CS-A, UV(S)S/CS-B and UV(S)S-A, caused by mutations in ERCC8, ERCC6 and an unidentified gene, respectively.
|
22466612 |
2012 |
|
Cockayne Syndrome
|
0.800 |
Biomarker
|
disease |
MGD |
Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology.
|
22174697 |
2011 |