|
Cockayne Syndrome
|
0.900 |
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 |
|
Cockayne Syndrome
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Cockayne syndrome groups A and B genes (CSA and CSB) result in defective TC-NER.
|
23571135 |
2013 |
|
Cockayne Syndrome
|
0.900 |
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 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
What role (if any) does the highly conserved CSB-PGBD3 fusion protein play in Cockayne syndrome?
|
23369858 |
2013 |
|
Cockayne Syndrome
|
0.900 |
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 |
|
Cockayne Syndrome
|
0.900 |
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
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome is a related disorder with defective TCR and consists of two complementation groups, Cockayne syndrome (CS)-A and CS-B, which are caused by mutations in ERCC8 (CSA) and ERCC6 (CSB), respectively.
|
22466612 |
2012 |
|
Cockayne Syndrome
|
0.900 |
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
|
0.900 |
Biomarker
|
disease |
BEFREE |
Two Cockayne syndrome (CS) complementation group proteins, CSA and CSB, are important for TCR repair.
|
22902626 |
2012 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6).
|
22661500 |
2012 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our data suggest that the CSB-PGBD3 fusion protein is important in both health and disease, and could play a role in Cockayne syndrome.
|
22483866 |
2012 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.
|
21477668 |
2011 |
|
Cockayne Syndrome
|
0.900 |
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 |
|
Cockayne Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
This interpretation has been challenged by a report suggesting reduced expression from an 8-oxoG containing reporter gene occurs in all cells by a mechanism involving gene inactivation by 8-oxoG DNA glycosylase and this inactivation is strongly enhanced in the absence of the CS group B (CSB) protein.
|
21059811 |
2011 |
|
Cockayne Syndrome
|
0.900 |
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 |
|
Cockayne Syndrome
|
0.900 |
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 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
ERCC6 is involved in DNA repair and mutations in ERCC6 cause Cockayne syndrome (CS).
|
21072178 |
2010 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We demonstrate that ATP hydrolysis by CSB is essential for stable CSB-chromatin association after UV irradiation and that defects in this association underlie some forms of Cockayne syndrome.
|
20122405 |
2010 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Thus, the NER-proteins CSA and CSB localize to mt and directly interact with BER-associated human mitochondrial 8-oxoguanine glycosylase-1 to protect from aging- and stress-induced mtDNA mutations and apoptosis-mediated loss of subcutaneous fat, a hallmark of aging found in animal models, human progeroid syndromes like CS and in normal human aging.
|
20100872 |
2010 |
|
Cockayne Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The Cockayne syndrome group B protein (CSB) is a member of the SWI/SNF2 subgroup of Superfamily 2 ATPases/nucleic acid translocases/helicases and is defective in the autosomal recessive segmental progeroid disorder Cockayne syndrome.
|
19580815 |
2009 |
|
Cockayne Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The CS complementation group B (CSB) protein is engaged in transcription coupled and global nucleotide excision repair, base excision repair and general transcription.
|
18541289 |
2008 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Cockayne syndrome B (CSB) gene result in the human form of Cockayne syndrome.
|
18656484 |
2008 |