|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.
|
31376723 |
2019 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a complex genetic disorder associated with heterozygous variation in ZEB2.
|
31321886 |
2019 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development.
|
29922981 |
2019 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sip1 mutation in humans was shown to cause Mowat-Wilson syndrome, a syndromic form of Hirschprung's disease.
|
30266271 |
2019 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings pave the path toward future analysis of the role of ZEB2 regulatory elements in neurodevelopmental disorders, such as Mowat-Wilson syndrome.
|
30590588 |
2019 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Sip1 mutation plays the main role in pathogenesis of the Mowat-Wilson syndrome, which is characterized by the pronounced epileptic symptoms.
|
30056076 |
2018 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene.
|
29300384 |
2018 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our data reveal that ZEB2 acts as an integral regulator of Bergmann glia formation ensuring maintenance of cerebellar integrity, suggesting that ZEB2 dysfunction in Bergmann gliogenesis might contribute to motor deficits in Mowat-Wilson syndrome.<b>SIGNIFICANCE STATEMENT</b> Bergmann glia are essential for proper cerebellar organization and functional circuitry, however, the molecular mechanisms that control the specification of Bergmann glia remain elusive.
|
29326173 |
2018 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene.
|
29258970 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22.
|
28094084 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Smad-interacting protein-1 (Sip1) [Zinc finger homeobox (Zfhx1b), Zeb2] is a transcription factor implicated in the genesis of Mowat-Wilson syndrome (MWS) in humans.
|
28455101 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Notably, mice with a mesoderm-specific deletion of the Zeb2 gene (Zeb2-cKO) demonstrated redundant skin, dermal hypoplasia and miniaturized collagen fibrils similar to those of MOWS patients.
|
28422173 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene.
|
27831545 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient.
|
26721324 |
2016 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).
|
26852091 |
2016 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene.
|
26686679 |
2016 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.
|
25028418 |
2015 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results demonstrate the advantages of using de novo Zeb2 Δex7/+ mice with the C57BL/6 background as the MOWS model.
|
26319231 |
2015 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
These results demonstrate the advantages of using de novo Zeb2 Δex7/+ mice with the C57BL/6 background as the MOWS model.
|
26319231 |
2015 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings may help to clarify the unknown roles of SIP1 in these cells and the pathoetiology of Mowat-Wilson syndrome.
|
24243579 |
2014 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
|
24715670 |
2014 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations.
|
23322667 |
2013 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene rarely diagnosed prenatally and with little fetal description reported.
|
23523603 |
2013 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Individuals with Mowat-Wilson syndrome (MWS; OMIM#235730) have characteristic facial features, a variety of congenital anomalies such as Hirschsprung disease, and intellectual disabilities caused by mutation or deletion of ZEB2 gene.
|
24029077 |
2013 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Altered expression of several mental retardation genes such as UBE3A (Angelman Syndrome), ZEB2 (Mowat-Wilson Syndrome) and MEF2C was also found in TCF4-depleted cells.
|
24058414 |
2013 |