|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways.
|
28098859 |
2017 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Altogether, these results reveal a pivotal role for BAZ1B in neurodevelopment and implicate its haploinsufficiency as a likely contributor to the neurological phenotypes in WS.
|
26755828 |
2016 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Williams syndrome transcription factor (WSTF), which is encoded by the BAZ1B gene, was first identified as a hemizygously deleted gene in patients with Williams syndrome.
|
27449264 |
2016 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
In the light of this new development we discuss the role of one of the deleted genes in WBS, Williams syndrome transcription factor (WSTF), in the etiology of hypercalcaemia in WBS.
|
24572979 |
2014 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Given the inappropriate appearance of regions of heterochromatin in BAZ1B knockout cells, it is evident that WSTF performs a critical role in maintaining chromatin and transcriptional states, a property that is likely compromised by WSTF haploinsufficiency in WBS patients.
|
24168170 |
2013 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our work is the first to describe a role for WSTF in proper neural crest function, and suggests that neural crest defects resulting from WSTF haploinsufficiency may be a major contributor to the pathoembryology of WS.
|
22691402 |
2013 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
By making WSTF-deficient mice, some of the heart defects as well as abnormal calcium metabolism observed in Williams syndrome are attributed to the abnormal chromatin remodeling activity caused by WSTF deficiency.
|
21242649 |
2011 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
MGD |
Loss of WSTF expression resulted in neonatal lethality, and all WSTF(-/-) neonates and approximately 10% of WSTF(+/-) neonates suffered cardiovascular abnormalities resembling those found in autosomal-dominant Williams syndrome patients.
|
19470456 |
2009 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
MGD |
We show that reduction in the level of Baz1b in the mouse results in craniofacial features reminiscent of Williams syndrome.
|
19099580 |
2008 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
The gene WSTF is deleted in the autosomal dominant hereditary disorder Williams-Beuren syndrome.
|
16448863 |
2006 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The Williams Syndrome Transcription Factor (WSTF), the product of the WBSCR9 gene, is invariably deleted in the haploinsufficiency Williams-Beuren Syndrome.
|
11980720 |
2002 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hemizygous deletion of WSTF may contribute to WS.
|
9828126 |
1998 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency for WBSCR9 gene products may contribute to the complex phenotype of WBS by interacting with tissue-specific regulatory factors during development.
|
9858827 |
1998 |
|
Malignant Neoplasms
|
0.120 |
AlteredExpression
|
group |
BEFREE |
We have measured the expression of WSTF in ER-positive tumor-samples from breast cancer patients and found that WSTF is expressed in the majority of the investigated samples and that the expression is higher in cancer tissue than in normal tissue.
|
28610873 |
2018 |
|
Malignant Neoplasms
|
0.120 |
GeneticVariation
|
group |
GWASCAT |
Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
|
27790247 |
2016 |
|
Malignant Neoplasms
|
0.120 |
Biomarker
|
group |
BEFREE |
However, the function of WSTF in cancer is not known.
|
27449264 |
2016 |
|
Hypercalcemia
|
0.110 |
Biomarker
|
disease |
BEFREE |
In the light of this new development we discuss the role of one of the deleted genes in WBS, Williams syndrome transcription factor (WSTF), in the etiology of hypercalcaemia in WBS.
|
24572979 |
2014 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs7020996 (P = .003) of the CDKN2A/B gene, rs7923837 (P = .038) of the HHEX gene, and rs12056034 (P = .033) of the BAZ1B gene were associated with T2D in our population.
|
20580033 |
2010 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hypercalcemia
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Triglycerides measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analyses of diverse populations improves discovery for complex traits.
|
31217584 |
2019 |
|
Uric acid measurement (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.
|
30993211 |
2019 |
|
Triglycerides measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A large electronic-health-record-based genome-wide study of serum lipids.
|
29507422 |
2018 |
|
High density lipoprotein measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A large electronic-health-record-based genome-wide study of serum lipids.
|
29507422 |
2018 |
|
Hyperuricemia
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
|
29124443 |
2018 |