Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
This information, along with the patient's clinical presentation and the functional similarity between the HDAC2 and HDAC8 proteins, suggests that HDAC2 should be further investigated as a candidate gene for CdLS or a CdLS-like syndrome.
|
30806031 |
2019 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex.
|
29155047 |
2018 |
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Significantly, the catalytic activities of most mutants can be partially or fully rescued by the activator N-(phenylcarbamothioyl)-benzamide, suggesting that HDAC8 activators may serve as possible leads in the therapeutic management of CdLS.
|
26463496 |
2015 |
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS.
|
24352918 |
2014 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes.
|
25655089 |
2015 |
Cornelia De Lange Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Mutations in NIPBL, cohesin, and its deacetylase HDAC8 result in Cornelia de Lange syndrome.
|
26725122 |
2016 |
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Genetic variants within components of the cohesin complex (NIPBL, SMC1A, SMC3, RAD21, PDS5, ESCO2, HDAC8) are believed to be responsible for a spectrum of human syndromes known as "cohesinopathies" that includes Cornelia de Lange Syndrome (CdLS).
|
26206533 |
2016 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes.
|
30606125 |
2019 |
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
These results suggest that HDAC8 activators might be useful leads in the search for new therapeutic strategies in managing CdLS.
|
25075551 |
2014 |
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS.
|
28588001 |
2017 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Most CdLS HDAC8 mutations trigger structural changes that directly or indirectly impact substrate binding and catalysis.
|
27576763 |
2016 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here we identify HDAC8 as the vertebrate SMC3 deacetylase, as well as loss-of-function HDAC8 mutations in six CdLS probands.
|
22885700 |
2012 |
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in core cohesin subunits SMC1A, SMC3 and RAD21, or their regulators NIPBL and HDAC8, cause Cornelia de Lange syndrome (CdLS).
|
26581180 |
2015 |
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Moreover our findings highlight the clinical utility of considering copy number analysis in HDAC8 as well as the analysis on DNA from more than one tissue as an indispensable part of the routine molecular diagnosis of individuals with CdLS or CdLS-overlapping features.
|
29279609 |
2018 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases.
|
24403048 |
2014 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The genetic cause of CdLS is a mutation in one of five associated genes (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) accounting for about 70% of cases.
|
25196272 |
2015 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The present study identified a novel missense mutation (c.806T>G, p.I269R) in the HDAC8 gene leading to CdLS, which not only provided strong evidence for diagnosis in this present patient, but also expanded the spectrum of pathogenic mutations for CdLS.
|
29991052 |
2018 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thus, we have further founded that the p.M196K mutation in HDAC8 is a relevant causal mutation for CdLS.
|
25102094 |
2014 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes encoding subunits (SMC1A, SMC3, RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex account for approximately 65% of clinically diagnosed CdLS cases.
|
24756084 |
2014 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS.
|
24918291 |
2014 |
Cornelia De Lange Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS-overlapping features.
|
26671848 |
2016 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for ∼ 70% of CdLS cases.
|
23683030 |
2014 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Approximately 60% of CdLS cases are due to NIPBL mutations, 5% caused by mutations in SMC1A, RAD21, and HDAC8 and one proband was found to carry a mutation in SMC3.
|
24038889 |
2013 |
Cornelia De Lange Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Five CNVs involved syndrome loci: 7q11.23 microduplication, 16p13.11 microduplication, 18q terminal deletion, HDAC8 (Cornelia de Lange syndrome type 5 and FOXF1) as well as one intragenic deletion in GALNT14, not previously implicated in human disease.
|
30632303 |
2019 |
Hypertensive disease
|
0.210 |
Biomarker
|
group |
BEFREE |
In summary, these data indicate that HDAC2 and HDAC8 play a key role in cardiac remodeling in renovascular hypertensive rats and that VPA attenuates hypertension and cardiac remodeling.
|
27673327 |
2017 |