|
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, 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, 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, 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, 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 |
|
Cockayne Syndrome, Type I
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
|
Cockayne Syndrome, Type I
|
0.800 |
Biomarker
|
disease |
CTD_human |
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
|
22466612 |
2012 |
|
Cockayne Syndrome, Type I
|
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, Type I
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
[Cockayne syndrome: a new mutation in the ERCC8 gene].
|
22829088 |
2012 |
|
Cockayne Syndrome, Type I
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
|
Cockayne Syndrome, Type I
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
|
Cockayne Syndrome, Type I
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
|
Cockayne Syndrome, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
The effects of UV irradiation on herpes simplex virus type 1 (HSV-1) gene expression and DNA replication were examined in cell lines containing mutations inactivating the XPA gene product required for nucleotide-excision repair, the DNA polymerase eta responsible for translesion synthesis, or the Cockayne syndrome A and B (CSA and CSB) gene products required for transcription-coupled nucleotide excision repair.
|
20215648 |
2010 |
|
Cockayne Syndrome, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Complementation assays have defined Cockayne syndrome group A (CSA) and Cockayne syndrome group B (CSB), caused by mutations in ERCC8 and ERCC6.
|
19309286 |
2009 |
|
Cockayne Syndrome, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Moreover, XAB2 has been shown to interact with Cockayne syndrome group A and B proteins (CSA and CSB) and RNA polymerase II, as well as XPA, and is involved in TCR and transcription.
|
17981804 |
2008 |
|
Cockayne Syndrome, Type I
|
0.800 |
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, Type I
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cockayne syndrome type A: novel mutations in eight typical patients.
|
16865293 |
2006 |
|
Cockayne Syndrome, Type I
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Cockayne syndrome type A: novel mutations in eight typical patients.
|
16865293 |
2006 |
|
Cockayne Syndrome, Type I
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We report that a subject with Cockayne syndrome type A (CS3BE) was a compound heterozygote for mutations in CKN1, the gene encoding the CSA protein (MIM 216400).
|
15744458 |
2005 |
|
Cockayne Syndrome, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report that a subject with Cockayne syndrome type A (CS3BE) was a compound heterozygote for mutations in CKN1, the gene encoding the CSA protein (MIM 216400).
|
15744458 |
2005 |
|
Cockayne Syndrome, Type I
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report that a subject with Cockayne syndrome type A (CS3BE) was a compound heterozygote for mutations in CKN1, the gene encoding the CSA protein (MIM 216400).
|
15744458 |
2005 |