Chromosome 2q37 deletion syndrome
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040).
|
25402011 |
2015 |
Chromosome 2q37 deletion syndrome
|
0.680 |
Biomarker
|
disease |
BEFREE |
We conclude that HDAC4 haploinsufficiency is responsible for psychomotor and behavioural abnormalities in combination with the BDMR syndrome-specific facial dysmorphism pattern and that these clinical features have a central diagnostic relevance.
|
23188045 |
2013 |
Chromosome 2q37 deletion syndrome
|
0.680 |
Biomarker
|
disease |
BEFREE |
Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome.
|
20691407 |
2010 |
Chromosome 2q37 deletion syndrome
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.
|
22753018 |
2012 |
Chromosome 2q37 deletion syndrome
|
0.680 |
Biomarker
|
disease |
BEFREE |
This is in contradistinction to previous reports that haploinsufficiency of HDAC4 is sufficient to cause BDMR.
|
24715439 |
2014 |
Chromosome 2q37 deletion syndrome
|
0.680 |
Biomarker
|
disease |
BEFREE |
One of the patients showed a typical BDMR phenotype, and HDAC4 was included in the deletion region.
|
25329715 |
2014 |
Chromosome 2q37 deletion syndrome
|
0.680 |
Biomarker
|
disease |
BEFREE |
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
|
30848064 |
2019 |
Chromosome 2q37 deletion syndrome
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like phenotype without any hormone resistance.
|
23645122 |
2013 |
Brachydactyly
|
0.440 |
Biomarker
|
disease |
BEFREE |
Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the critical genetic mechanism responsible for the main clinical characteristics of the BDMR syndrome like developmental delay and behavioural abnormalities in combination with brachydactyly type E (BDE).
|
23188045 |
2013 |
Brachydactyly
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.
|
22753018 |
2012 |
Brachydactyly
|
0.440 |
Biomarker
|
disease |
BEFREE |
Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the HDAC4 critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR.
|
25402011 |
2015 |
Brachydactyly
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Presented here are three individuals with haploinsufficiency of HDAC4 who have brachydactyly type E, non-dysmorphic facial features, and normal intelligence.
|
24715439 |
2014 |
Intellectual Disability
|
0.430 |
GeneticVariation
|
group |
BEFREE |
Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.
|
24715439 |
2014 |
Intellectual Disability
|
0.430 |
GeneticVariation
|
group |
BEFREE |
Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.
|
22753018 |
2012 |
Intellectual Disability
|
0.430 |
AlteredExpression
|
group |
BEFREE |
We propose a core pathway of transcription regulators, including Hdac4, involved in chromatin condensation and transcriptional repression, and one of its targets, the transcription factor Twist1, as potential drivers of the ID and infantile spasms in patients with ARX polyalanine expansion mutations.
|
27798109 |
2016 |
Malignant neoplasm of breast
|
0.330 |
Biomarker
|
disease |
BEFREE |
Together these results demonstrate that serum miR-125a-5p level in breast cancer may be a useful prognostic biomarker and offer a novel therapeutic avenue by targeting HDAC4 in breast cancer.
|
25504437 |
2015 |
Malignant neoplasm of breast
|
0.330 |
Biomarker
|
disease |
BEFREE |
We propose miR-10b-HDAC4 nexus as one of the molecular mechanism of tamoxifen resistance which can potentially be expolited as a novel targeted therapeutic approach for the clinical management of tamoxifen-resistant breast cancers.
|
26206152 |
2015 |
Malignant neoplasm of breast
|
0.330 |
Biomarker
|
disease |
BEFREE |
Using breast cancer and glioblastoma as examples to examine intrinsic subtypes of particular cancers, EZH2 activation was highest in luminal breast cancers and proneural glioblastomas, while HDAC4 activation was highest in basal breast cancer and mesenchymal glioblastoma.
|
24079712 |
2013 |
Schizophrenia
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
The mRNA expression level of an epigenetically regulated schizophrenia candidate gene GAD67 was strongly and negatively correlated with the mRNA expression levels of HDAC1, HDAC3 and HDAC4 levels.
|
17961987 |
2008 |
Schizophrenia
|
0.330 |
Biomarker
|
disease |
BEFREE |
The results suggest that HDAC3 and HDAC4 genes might play a role in the pathophysiology of schizophrenia in a Korean population.
|
20471694 |
2010 |
Schizophrenia
|
0.330 |
Biomarker
|
disease |
BEFREE |
In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as <i>EXT1</i>, <i>ASTN2</i>, <i>MACROD2</i>, and <i>HDAC4.</i>
|
28540026 |
2017 |
Malignant neoplasm of urinary bladder
|
0.320 |
Biomarker
|
disease |
BEFREE |
The results of our immunohistochemistry (IHC) staining studies further revealed a strong correlation between the over-expression of HDAC4 and increased bladder cancer occurrence (p < 0.001) as well as a marginal significance of increasing incidence of HDAC4 positivity seen with an increase in severity of bladder cancer (p = 0.08).
|
21507255 |
2011 |
Malignant neoplasm of urinary bladder
|
0.320 |
AlteredExpression
|
disease |
BEFREE |
We also observed increased expression in Hdac4, -7, and -9 in commonly used BC mouse models.
|
31137849 |
2019 |
Bladder Neoplasm
|
0.320 |
Biomarker
|
disease |
BEFREE |
The results of our immunohistochemistry (IHC) staining studies further revealed a strong correlation between the over-expression of HDAC4 and increased bladder cancer occurrence (p < 0.001) as well as a marginal significance of increasing incidence of HDAC4 positivity seen with an increase in severity of bladder cancer (p = 0.08).
|
21507255 |
2011 |
Bladder Neoplasm
|
0.320 |
AlteredExpression
|
disease |
BEFREE |
We also observed increased expression in Hdac4, -7, and -9 in commonly used BC mouse models.
|
31137849 |
2019 |