|
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, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Likewise, quantitative indicators of SDB were altered in both forms of SDB with a reduction in circulatory delay (CSA 38 ± 14 vs. 33 ± 15 s.; p = 0.002 and OSA 34 ± 9 vs. 28 ± 6 s.; p = 0.02) and a corresponding reduction in ventilation lengths in CSA patients (42 ± 15 vs. 37 ± 13 s.; p = 0.05).
|
30523557 |
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, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Standing ultrasonography images of the vastus lateralis (VL) were collected to determine whole muscle cross-sectional area (CSA-M), and a percutaneous muscle biopsy of the VL was collected to determine type I-specific CSA (CSA-T1), type II-specific CSA (CSA-T2), and type II to type I CSA ratio (CSA-R).
|
30199453 |
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, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
|
29057985 |
2017 |
|
Cockayne Syndrome, Type I
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
|
29057985 |
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, Type I
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
|
26204423 |
2016 |
|
Cockayne Syndrome, Type I
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
|
27004399 |
2016 |
|
Cockayne Syndrome, Type I
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
|
26846091 |
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, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we describe the case of a 7-year-old Chinese boy with characteristic symptoms of Cockayne syndrome A and the conduction of mutation screening of the CSA gene.
|
26173784 |
2015 |
|
Cockayne Syndrome, Type I
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |