Congenital scoliosis (CS), affecting approximately 0.5 to 1 in 1,000 live births, is commonly
caused by congenital vertebral malformations (CVMs) arising from aberrant somitogenesis …

Fbw7, a substrate receptor for Cul1-RING-ligase (CRL1), facilitates the ubiquitination and
degradation of several proteins, including Cyclin E and c-Myc. In spite of much effort, the …

In humans, GLE1 is mutated in lethal congenital contracture syndrome 1 (LCCS1) leading to
prenatal death of all affected fetuses. Although the molecular roles of Gle1 in nuclear mRNA …

Closed spinal dysraphisms are poorly understood malformations classified as neural tube
(NT) defects. Several, including terminal myelocystocele, affect the distal spine. We have …

Background GNB1 encodes a subunit of a heterotrimeric G‐protein complex that transduces
intracellular signaling cascades. Disruptions to the gene have previously been shown to be …

Background Variants in planar cell polarity (PCP) pathway genes have been repeatedly
implicated in the pathogenesis of NTDs in both mouse models and in human cohorts. Mouse …

Several single‐nucleotide variants (SNV s) in low‐density lipoprotein receptor‐related
protein 6 (Lrp6) cause neural tube defects (NTD s) in mice. We therefore examined LRP6 in …

The molecular mechanisms regulating neurogenesis involve the control of gene expression
by transcription factors. Gbx1 and Gbx2, two members of the Gbx family of homeodomain …

Malformations of the cerebral cortex (MCCs) are devastating developmental disorders. We
report here that mice with embryonic neural stem-cell-specific deletion of Llgl1 (Nestin …

Lack or excess expression of the surface ectoderm-expressed transcription factor
Grainyhead-like2 (Grhl2), each prevent spinal neural tube closure. Here we investigate the …