|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
|
9443879 |
1998 |
|
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 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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The CSB mutant alleles were tested for genetic complementation of UV-sensitive phenotypes in the human CS-B homologue of hamster UV61.
|
10564257 |
1999 |
|
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 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is caused by mutations in CSA and CSB.
|
29225035 |
2017 |
|
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 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the CSB -coding region in both cDNA and genomic DNA showed that these patients had identical alterations to those in a patient with the clinical features of the classical form of CS.
|
10767341 |
2000 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
ERCC6 is involved in DNA repair and mutations in ERCC6 cause Cockayne syndrome (CS).
|
21072178 |
2010 |
|
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 |
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.
|
10196384 |
1999 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is a progressive childhood neurodegenerative disorder associated with a DNA repair defect caused by mutations in either of two genes, CSA and CSB.
|
17055654 |
2007 |
|
Cockayne Syndrome
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |
GeneticVariation
|
disease |
BEFREE |
In addition, the incision of an 8-oxoguanine lesion by extracts of the CS-B cell lines stably transfected with the wild-type or ATPase mutant CSB gene has been investigated.
|
11809892 |
2002 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutation of CSB, CSA, or the TFIIH helicases XPB and XPD can also cause defective TCR and CS.
|
16246722 |
2005 |
|
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 |
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 |
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 |