|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Moreover, a variety of assays are available for use in <i>Xenopus</i> to examine how manipulation of WHS genes leads to changes in the development of tissue and organ systems affected in WHS.
|
31297068 |
2019 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The WHS critical region has been narrowed into the region 2 Mb from the telomere, which includes LETM1 and WHSC1; however, this region is insufficient to cause "typical WHS facial appearance".
|
30378700 |
2019 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The phenotype of these two individuals is consistent with WHS, which suggests that haploinsufficiency of WHSC1 is sufficient to recapitulate the core phenotype (characteristic facies, and growth and developmental delay) of this classic microdeletion syndrome.
|
29892088 |
2019 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Wolf-Hirschhorn syndrome candidate gene-1 (WHSC1), a histone methyltransferase, has been found to be upregulated and its expression to be correlated with expression of enhancer of zeste homolog 2 (EZH2) in several cancers.
|
31092221 |
2019 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
The WHS critical region (WHSCR) has been narrowed down and NSD2 falls within this 200 kb region.
|
31382906 |
2019 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
These findings, along with our patient suggest that loss-of-function variation in WHSC1 may lead to a mild form of Wolf-Hirschhorn syndrome, and also may suggest that the developmental delays, facial dysmorphisms, and short stature seen in WHS may be due to disruption of WHSC1 gene.
|
30345613 |
2018 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome.
|
29760529 |
2018 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A series of WHS related phenotypes were found in whsc1<sup>-/-</sup> zebrafish, including growth retardation, neural development defects and heart failure.
|
28654864 |
2017 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Particularly, our results demonstrate that both differentiation and function of Whsc1-deficient B cells are impaired at several key developmental stages due to profound molecular defects affecting B cell lineage specification, commitment, fitness, and proliferation, demonstrating a causal role for WHSC1 in the immunodeficiency of WHS patients.
|
28538178 |
2017 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Overexpression of Wolf-Hirschhorn syndrome candidate 1 (WHSC1) is commonly observed in various types of tumors.
|
28260054 |
2017 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
NSD2 haploinsufficiency causes Wolf-Hirschhorn syndrome, while NSD1 mutations lead to the Sotos syndrome.
|
25942451 |
2015 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here, we show that WHSC1-deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies.
|
26092122 |
2015 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Altogether, these results show that although loss-of-function for WHSC1 and/or LETM1 contributes to some of the features of WHS, deletion of additional genes is required for the full expression of the phenotype, providing further support that WHS is a contiguous gene deletion disorder.
|
23963300 |
2014 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
An epigenomic approach to therapy for tamoxifen-resistant breast cancer.
|
24874954 |
2014 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We suspect that haploinsufficiency of WHSC1 is the most probable cause of the growth deficiency, microcephaly, and characteristic facial features in WHS.
|
23637096 |
2013 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
These results suggest that defective CSR caused by MMSET deficiency could be a cause of Ab deficiency in WHS patients.
|
23241889 |
2013 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We found SNP rs14647 in the Wolf-Hirschhorn syndrome candidate gene1 (WHSC1) 3'UTR (untranslated region) was associated with endometriosis-related infertility presenting an odds ratio of 12.2 (95% confidence interval = 2.4-60.7, P = 9.03 × 10(-5)).
|
20935158 |
2011 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
The microduplication did not involve WHSC1 and WHSC2 which are considered in the critical region for WHS and trisomy 4p.
|
21815251 |
2011 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4(p14 --> p16.3), with preservation of the WHS critical region.
|
19449429 |
2009 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Therefore, we propose that overexpression of candidate genes in WHS (WHSC1, WHSC2 and LETM1) due to a duplication causes a clinical entity different to both the WHS and 4p trisomy syndrome.
|
19729912 |
2009 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
Whsc1-deficient mice showed growth retardation and various WHS-like midline defects, including congenital cardiovascular anomalies.
|
19483677 |
2009 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental retardation, epilepsy, facial dysmorphisms, and midline fusion defects, shows extensive phenotypic variability.
|
17637805 |
2007 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The families experienced by occurrence of child with Wolf-Hirschhorn syndrome (WHS: OMIM # 194190) and by other unfavourable pregnancy outcomes (miscarriages or stillbirths/early deaths and partial trisomy 4p imbalance leading to intellectual disability in live born progeny) are asking for genetic counseling.
|
18229657 |
2007 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
To date, most ring formations of chromosome 4 lose distal 4p and usually include the Wolf-Hirschhorn syndrome region [WHS].
|
16082703 |
2005 |
|
Wolf-Hirschhorn Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
However, recent evidence, from patient studies and mouse models, indicates that deletion of WHSC1 alone is insufficient for full-blown WHS.
|
15734578 |
2005 |