|
Russell-Silver syndrome
|
0.330 |
Biomarker
|
disease |
CTD_human |
Investigation of CSH1 deletions in further SRS and growth retarded patients will enable us to establish under which circumstances haploinsufficiency of CSH1 is likely to result in clinical changes.
|
14642004 |
2003 |
|
Russell-Silver syndrome
|
0.330 |
Biomarker
|
disease |
BEFREE |
Investigation of CSH1 deletions in further SRS and growth retarded patients will enable us to establish under which circumstances haploinsufficiency of CSH1 is likely to result in clinical changes.
|
14642004 |
2003 |
|
Russell-Silver syndrome
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Two cases of balanced translocations with breakpoints in 17q23.3-q25 and two cases with a hemizygous deletion of the chorionic somatomammatropin gene (CSH1) on 17q24.1 have been associated with SRS, strongly implicating this region.
|
11748303 |
2001 |
|
Russell-Silver syndrome
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Though deletions of CSH1 have been reported without any phenotypic consequences, the heterozygous deletion might be involved in the aetiology of SRS in the case presented here.
|
9733042 |
1998 |
|
Cockayne Syndrome
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Multisystem analyses of two Cockayne syndrome associated proteins CSA and CSB reveal shared and unique functions.
|
31546172 |
2019 |
|
Cockayne Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
CSB depletion promotes overexpression of the HTRA3 protease resulting in mitochondrial impairments, which are causally linked to CS pathological phenotypes.
|
31811121 |
2019 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the Cockayne syndrome B (CSB) gene affects basal transcription, which is considered a major cause of CS neurologic dysfunction.
|
31644904 |
2019 |
|
Cockayne Syndrome, Type I
|
0.100 |
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
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in the TC-NER genes CSA and CSB lead to severe postnatal developmental defects in Cockayne syndrome patients.
|
29788264 |
2018 |
|
Cockayne Syndrome
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
No inter-coordination between the subnuclear localization of CSA and CSB was observed, implying that this aspect does not underlie the clinical features of CS.
|
30504782 |
2018 |
|
Cockayne Syndrome, Type I
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome (CS) is caused by mutations in CSA and CSB.
|
29225035 |
2017 |
|
Cockayne Syndrome
|
0.100 |
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
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Cockayne syndrome complementation group B (CSB) protein coded by ERCC6 is a vital component for NER.
|
27231489 |
2016 |
|
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report novel missense mutations affecting a conserved loop in the ERCC6 (CSB) protein, associated with the Cockayne syndrome phenotype.
|
26749132 |
2016 |
|
Cockayne Syndrome
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Importantly, reprogramming of CS fibroblasts to neuron-like cells is defective unless an exogenous CSB gene is introduced.
|
25249633 |
2014 |
|
Cockayne Syndrome, Type I
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Knockdown of CSA reduces pre-rRNA synthesis by RNA polymerase I. CSA associates with RNA polymerase I and the active fraction of the rDNA and stimulates re-initiation of rDNA transcription by recruiting the Cockayne syndrome proteins TFIIH and CSB.
|
24781187 |
2014 |
|
Cockayne Syndrome
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mice deficient for Csa or Csb genetically mimic CS in man, and develop mild CS symptoms including reduced fat tissue, photoreceptor cell loss, and mild, but characteristic, nervous system pathology.
|
23591128 |
2013 |