ZEB2, the Mowat-Wilson syndrome transcription factor: confirmations, novel functions, and continuing surprises

JC Birkhoff, D Huylebroeck, A Conidi - Genes, 2021 - mdpi.com
After its publication in 1999 as a DNA-binding and SMAD-binding transcription factor (TF)
that co-determines cell fate in amphibian embryos, ZEB2 was from 2003 studied by …

Genes and pathways in optic fissure closure

A Patel, JC Sowden - Seminars in Cell & Developmental Biology, 2019 - Elsevier
Embryonic development of the vertebrate eye begins with the formation of an optic vesicle
which folds inwards to form a double-layered optic cup with a fissure on the ventral surface …

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

L Garavelli, I Ivanovski, SG Caraffi… - Genetics in …, 2017 - nature.com
Purpose: Mowat–Wilson syndrome (MWS) is a genetic disease characterized by distinctive
facial features, moderate to severe intellectual disability, and congenital malformations …

[HTML][HTML] Mowat-wilson syndrome

MP Adam, J Conta, LJH Bean - 2019 - europepmc.org
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced
eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin …

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

B Deml, LM Reis, S Muheisen, D Bick… - … Research Part A …, 2015 - Wiley Online Library
Background Congenital microphthalmia and coloboma are severe developmental defects
that are frequently associated with additional systemic anomalies and display a high level of …

Hirschsprung's disease in children with Mowat–Wilson syndrome

D Coyle, P Puri - Pediatric surgery international, 2015 - Springer
Background Hirschsprung's disease (HSCR) is cited as a classical component in the
constellation of features found in children with Mowat–Wilson syndrome (MWS), which is …

Mowat–Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions

C St. Peter, WA Hossain, S Lovell, SK Rafi… - International Journal of …, 2024 - mdpi.com
Mowat–Wilson syndrome (MWS) is a rare genetic neurodevelopmental congenital disorder
associated with various defects of the zinc finger E-box binding homeobox 2 (ZEB2) gene …

Clinical and molecular effects of CHD7 in the heart

N Corsten‐Janssen, PJ Scambler - American Journal of …, 2017 - Wiley Online Library
Heart defects caused by loss‐of‐function mutations in CHD7 are a frequent cause of
morbidity and mortality in CHARGE syndrome. Here we review the clinical and molecular …

A novel partial duplication of ZEB2 and review of ZEB2 involvement in Mowat-Wilson syndrome

AL Baxter, JL Vivian, RT Hagelstrom… - Molecular …, 2017 - karger.com
Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability,
structural anomalies, and dysmorphic features. It is caused by haploinsufficiency of the ZEB2 …

Epigenetic developmental disorders: CHARGE syndrome, a case study

DM Martin - Current genetic medicine reports, 2015 - Springer
Epigenetic events including chromatin remodeling and histone modifications have recently
emerged as important contributors to a variety of neurodevelopmental disorders. This review …