Rare deleterious variants in GRHL3 are associated with human spina bifida

P Lemay, P De Marco, A Emond… - Human …, 2017 - Wiley Online Library
Neural tube defects, including spina bifida, are among the most common birth defects
caused by failure of neural tube closure during development. They have a complex etiology …

Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse

MR Brouns, SCP De Castro… - Human molecular …, 2011 - academic.oup.com
Cranial neural tube defects (NTDs) occur in mice carrying mutant alleles of many different
genes, whereas isolated spinal NTDs (spina bifida) occur in fewer models, despite being …

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

Z Crane-Smith, SCP De Castro… - Human Molecular …, 2023 - academic.oup.com
Orofacial clefts, including cleft lip and palate (CL/P) and neural tube defects (NTDs) are
among the most common congenital anomalies, but knowledge of the genetic basis of these …

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice

SCP De Castro, P Gustavsson… - Human molecular …, 2018 - academic.oup.com
The genetic basis of human neural tube defects (NTDs), such as anencephaly and spina
bifida (SB), is complex and heterogeneous. Grainyhead-like genes represent candidates for …

Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model

P Gustavsson, NDE Greene, D Lad… - Human molecular …, 2007 - academic.oup.com
Neural tube defects (NTDs), such as spina bifida, are common and severe birth defects in
humans but the underlying causes are poorly understood. The pathogenesis and etiology of …

Loss of Grhl3 is correlated with altered cellular protrusions in the non‐neural ectoderm during neural tube closure

E Jaffe, L Niswander - Developmental Dynamics, 2021 - Wiley Online Library
Abstract Background The transcription factor Grainyhead‐like 3 (GRHL3) has multiple roles
in a variety of tissues during development including epithelial patterning and actin …

[HTML][HTML] Neural tube closure depends on expression of Grainyhead-like 3 in multiple tissues

SCP De Castro, CS Hirst, D Savery, A Rolo… - Developmental …, 2018 - Elsevier
Failure of neural tube closure leads to neural tube defects (NTDs), common congenital
abnormalities in humans. Among the genes whose loss of function causes NTDs in mice …

Grainyhead genes and mammalian neural tube closure

P Gustavsson, AJ Copp… - Birth Defects Research …, 2008 - Wiley Online Library
BACKGROUND: Grainyhead genes encode a family of transcription factors that are well
conserved from fly to human. The three mammalian homologues, Grainyhead‐like‐1,‐2, and …

Dominant negative GPR161 rare variants are risk factors of human spina bifida

SE Kim, Y Lei, SH Hwang, BJ Wlodarczyk… - Human molecular …, 2019 - academic.oup.com
Spina bifida (SB) is a complex disorder of failed neural tube closure during the first month of
human gestation, with a suspected etiology involving multiple gene and environmental …

[HTML][HTML] Regional neural tube closure defined by the Grainy head-like transcription factors

Y Rifat, V Parekh, T Wilanowski, NR Hislop… - Developmental …, 2010 - Elsevier
Primary neurulation in mammals has been defined by distinct anatomical closure sites, at
the hindbrain/cervical spine (closure 1), forebrain/midbrain boundary (closure 2), and rostral …