Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects

Loss-of-function de novo mutations play an important role in severe human neural tube defects

(2015) Philippe Lemay et al.   JOURNAL OF MEDICAL GENETICS

Shroom3 functions downstream of planar cell polarity to regulate myosin II distribution and cellular organization during neural tube closure

(2015) E. M. McGreevy et al.   Biology Open

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

(2013) Zakia A. Abdelhamed et al.   HUMAN MOLECULAR GENETICS

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

(2013) Xiaoli Chen et al.   PLoS One

Genetic evidence in planar cell polarity signaling pathway in human neural tube defects

(2013) Chunquan Cai et al.   Frontiers of Medicine

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

(2012) Redouane Allache et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Identification of novel rare mutations of DACT1 in human neural tube defects

(2012) Yan Shi et al.   HUMAN MUTATION

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

TNIP1 is a corepressor of agonist-bound PPARs

(2011) Anthony M. Flores et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

(2011) Ayumi Narisawa et al.   HUMAN MOLECULAR GENETICS

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

(2011) J. H. Seo et al.   HUMAN MOLECULAR GENETICS

FZD6is a novel gene for human neural tube defects

(2011) Patrizia De Marco et al.   HUMAN MUTATION

Identification and characterization of novel rare mutations in the planar cell polarity genePRICKLE1in human neural tube defects

(2011) Ciprian M. Bosoi et al.   HUMAN MUTATION

The relationship between sonic Hedgehog signaling, cilia, and neural tube defects

(2010) Jennifer N. Murdoch et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure

(2010) Muriel J. Harris et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Contribution of VANGL2 mutations to isolated neural tube defects

(2010) Z Kibar et al.   CLINICAL GENETICS

VANGL2Mutations in Human Cranial Neural-Tube Defects

(2010) Yun-Ping Lei et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recent Studies on Neural Tube Defects in Embryos of Diabetic Pregnancy: An Overview

(2009) S. Dheen et al.   CURRENT MEDICINAL CHEMISTRY

Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway

(2009) Victoria L. Patterson et al.   HUMAN MOLECULAR GENETICS

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

(2009) Scott D. Weatherbee et al.   HUMAN MOLECULAR GENETICS

Prevalence of Sacral Spina Bifida Occulta and Its Relationship to Age, Sex, Race, and the Sacral Table Angle

(2009) Jason David Eubanks et al.   SPINE

Genetic Basis of Neural Tube Defects

(2009) Alexander G. Bassuk et al.   Seminars in Pediatric Neurology

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects

(2008) Kristen L. Deak et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

ABIN-1 is a ubiquitin sensor that restricts cell death and sustains embryonic development

(2008) Shigeru Oshima et al.   NATURE