The role of primary cilia in the pathophysiology of neural tube defects

Folic Acid Supplementation for the Prevention of Neural Tube Defects: An Update of the Evidence for the U.S. Preventive Services Task Force

(2013) Tracy Wolff   ANNALS OF INTERNAL MEDICINE

Prenatal ablation of nicotinic receptor alpha7 cell lineages produces lumbosacral spina bifida the severity of which is modified by choline and nicotine exposure

(2012) Scott W. Rogers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Craniovertebral junction abnormality in a case of Joubert syndrome

(2012) Timothy W. Vogel et al.   CHILDS NERVOUS SYSTEM

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation

(2012) C. Gascue et al.   JOURNAL OF CELL SCIENCE

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

(2012) Ji Eun Lee et al.   NATURE GENETICS

Zebrafish arl6ip1 Is Required for Neural Crest Development during Embryogenesis

(2012) Chi-Tang Tu et al.   PLoS One

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

(2011) William E. Dowdle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gli Proteins in Development and Disease

(2011) Chi-chung Hui et al.   Annual Review of Cell and Developmental Biology

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

Modeling Human Disease in Humans: The Ciliopathies

(2011) Gaia Novarino et al.   CELL

Protein kinase A acts at the basal body of the primary cilium to prevent Gli2 activation and ventralization of the mouse neural tube

(2011) M. Tuson et al.   DEVELOPMENT

Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13bhnn stems from abnormal Shh signaling

(2011) Vanessa L. Horner et al.   DEVELOPMENTAL BIOLOGY

PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube

(2011) Westley Heydeck et al.   DEVELOPMENTAL DYNAMICS

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

(2011) SHIFTEH SATTAR et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Understanding cargo specificity in intraflagellar transport

(2011) David S Parker et al.   EMBO JOURNAL

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

Mutations in the planar cell polarity genesCELSR1andSCRIBare associated with the severe neural tube defect craniorachischisis

(2011) Alexis Robinson et al.   HUMAN MUTATION

Patched1 haploinsufficiency impairs ependymal cilia function of the quaking viable mice, leading to fatal hydrocephalus

(2011) Christina Gavino et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Cilia in the CNS: The Quiet Organelle Claims Center Stage

(2011) Angeliki Louvi et al.   NEURON

Prenatal versus Postnatal Repair of Myelomeningocele

(2011)   NEW ENGLAND JOURNAL OF MEDICINE

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Genetic Signature of Spina Bifida Risk from Pathway-Informed Comprehensive Gene-Variant Analysis

(2011) Nicholas J. Marini et al.   PLoS One

Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects

(2011) A. Ren et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

(2011) Q. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population

(2010) Tonia C. Carter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Planar cell polarity pathway genes and risk for spina bifida

(2010) Shu Wen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Planar cell polarity signaling in neural development

(2010) Fadel Tissir et al.   CURRENT OPINION IN NEUROBIOLOGY

PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals

(2010) Huiqing Zeng et al.   DEVELOPMENTAL BIOLOGY

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

(2010) C. Cui et al.   Disease Models & Mechanisms

Cilia Organize Ependymal Planar Polarity

(2010) Z. Mirzadeh et al.   JOURNAL OF NEUROSCIENCE

Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects

(2010) Clare V. Logan et al.   MOLECULAR NEUROBIOLOGY

Coupling between hydrodynamic forces and planar cell polarity orients mammalian motile cilia

(2010) Boris Guirao et al.   NATURE CELL BIOLOGY

Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus

(2010) Fadel Tissir et al.   NATURE NEUROSCIENCE

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

Cilia in cell signaling and human disorders

(2010) Neil A. Duldulao et al.   Protein & Cell

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida

(2009) Carla A. Martinez et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Interaction ofPDGFRApromoter haplotypes and maternal environmental exposures in the risk of spina bifida

(2009) Mascha Toepoel et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Folic acid, methylation and neural tube closure in humans

(2009) Henk J. Blom   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects

(2009) Anne M. Molloy et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Planar cell polarity effector geneFuzzyregulates cilia formation and Hedgehog signal transduction in mouse

(2009) Westley Heydeck et al.   DEVELOPMENTAL DYNAMICS

Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling

(2009) Ryan X. Norman 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

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development

(2009) Ryan S. Gray et al.   NATURE CELL BIOLOGY

Dual and opposing roles of primary cilia in medulloblastoma development

(2009) Young-Goo Han et al.   NATURE MEDICINE

Genetic Basis of Neural Tube Defects

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

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

(2008) Jonna Tallila et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Planar Cell Polarity Signaling: From Fly Development to Human Disease

(2008) Matias Simons et al.   Annual Review of Genetics

Neural Stem Cells Confer Unique Pinwheel Architecture to the Ventricular Surface in Neurogenic Regions of the Adult Brain

(2008) Zaman Mirzadeh et al.   Cell Stem Cell

Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool

(2008) N. Spassky et al.   DEVELOPMENTAL BIOLOGY

A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation

(2008) Alexander V. Loktev et al.   DEVELOPMENTAL CELL

Early Neuronal and Glial Fate Restriction of Embryonic Neural Stem Cells

(2008) D. Delaunay et al.   JOURNAL OF NEUROSCIENCE

Clinical predictors of developmental outcome in patients with cephaloceles

(2008) Benjamin W. Y. Lo et al.   Journal of Neurosurgery-Pediatrics

Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells

(2008) Young-Goo Han et al.   NATURE NEUROSCIENCE