DLG5 connects cell polarity and Hippo signaling protein networks by linking PAR-1 with MST1/2

J Kwan, A Sczaniecka, EH Arash… - Genes & …, 2016 - genesdev.cshlp.org
Disruption of apical–basal polarity is implicated in developmental disorders and cancer;
however, the mechanisms connecting cell polarity proteins with intracellular signaling …

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog …

P Orchard, JS White, PE Thomas… - Human Molecular …, 2019 - academic.oup.com
Danforth's short tail (Sd) mice provide an excellent model for investigating the underlying
etiology of human caudal birth defects, which affect 1 in 10 000 live births. Sd animals …

Identification of new candidate genes for spina bifida through exome sequencing

A Azzarà, C Rendeli, AM Crivello, F Brugnoletti… - Child's Nervous …, 2021 - Springer
Purpose Neural tube defects are a group of birth defects caused by failure of neural tube
closure during development. The etiology of NTD, requiring a complex interaction between …

Inactivation of Zeb1 in GRHL2-deficient mouse embryos rescues mid-gestation viability and secondary palate closure

MR Carpinelli, ME De Vries, A Auden… - Disease models & …, 2020 - journals.biologists.com
Cleft lip and palate are common birth defects resulting from failure of the facial processes to
fuse during development. The mammalian grainyhead-like (Grhl1-3) genes play key roles in …

Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model

Y Niida, M Inoue, M Ozaki, E Takase - Cytogenetic and Genome …, 2018 - karger.com
GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling
pathway. GLI regulates gene expression and repression at various phases of embryonic …

[HTML][HTML] Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family

E Torban, HJ Wang, N Groulx, P Gros - Journal of Biological Chemistry, 2004 - ASBMB
Mammalian Vangl1 and Vangl2 are highly conserved membrane proteins that have evolved
from a single ancestral protein Strabismus/Van Gogh found in Drosophila. Mutations in the …

[HTML][HTML] Grainyhead-like 2 is required for morphological integrity of mouse embryonic stem cells and orderly formation of inner ear-like organoids

B Forrester-Gauntlett, L Peters, B Oback - Frontiers in Cell and …, 2023 - frontiersin.org
Mutations in the transcription factor gene grainyhead-like 2 (GRHL2) are associated with
progressive non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28) …

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

R Allache, P De Marco, E Merello… - … Research Part A …, 2012 - Wiley Online Library
BACKGROUND Neural tube defects (NTDs), including anencephaly and spina bifida, have
a complex etiology. Defects in the planar cell polarity (PCP) signaling pathway have been …

[HTML][HTML] The Lineage Contribution and Role of Gbx2 in Spinal Cord Development

B Luu, D Ellisor, M Zervas - PloS one, 2011 - journals.plos.org
Background Forging a relationship between progenitors with dynamically changing gene
expression and their terminal fate is instructive for understanding the logic of how cell-type …

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

M Beaumont, L Akloul, W Carré, C Quélin, H Journel… - Human genetics, 2019 - Springer
Neural tube defect disorders are developmental diseases that originate from an incomplete
closure of the neural tube during embryogenesis. Despite high prevalence—1 out of 3000 …