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Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/1526-968x(200010)28:2<82::aid-gene60>3.0.co;2-zopenalex-snapshot
Cell size and the morphogenesis of wing hairs in Drosophila
inferredcites →https://doi.org/10.1002/ajmg.a.30766openalex-snapshot
Analysis of the planar cell polarity gene Vangl2 and its co‐expressed paralogue Vangl1 in neural tube defect patients
inferredcites →https://doi.org/10.1002/ajmg.c.30054openalex-snapshot
Neural tube closure and neural tube defects: Studies in animal models reveal known knowns and known unknowns
inferredcites →https://doi.org/10.1002/bdra.23002openalex-snapshot
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis
inferredcites →https://doi.org/10.1002/bdra.23079openalex-snapshot
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects
inferredcites →https://doi.org/10.1002/bdra.23255openalex-snapshot
Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population
inferredcites →https://doi.org/10.1002/bdra.23273openalex-snapshot
Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects
inferredcites →https://doi.org/10.1002/dvdy.22130openalex-snapshot
Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse
inferredcites →https://doi.org/10.1002/humu.21026openalex-snapshot
Novel mutations inVANGL1in neural tube defects
inferredcites →https://doi.org/10.1002/humu.21589openalex-snapshot
Identification and characterization of novel rare mutations in the planar cell polarity genePRICKLE1in human neural tube defects
inferredcites →https://doi.org/10.1002/humu.21643openalex-snapshot
FZD6is a novel gene for human neural tube defects
inferredcites →https://doi.org/10.1002/humu.21662openalex-snapshot
Mutations in the planar cell polarity genesCELSR1andSCRIBare associated with the severe neural tube defect craniorachischisis
inferredcites →https://doi.org/10.1002/humu.22121openalex-snapshot
Identification of novel rare mutations of DACT1 in human neural tube defects
inferredcites →https://doi.org/10.1007/s002340000325openalex-snapshot
Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification
inferredcites →https://doi.org/10.1007/s10048-006-0052-2openalex-snapshot
Current perspectives on the genetic causes of neural tube defects
inferredcites →https://doi.org/10.1007/s12031-012-9871-9openalex-snapshot
Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects
inferredcites →https://doi.org/10.1016/j.cub.2004.11.007openalex-snapshot
Inturned Localizes to the Proximal Side of Wing Cells under the Instruction of Upstream Planar Polarity Proteins
inferredcites →https://doi.org/10.1016/j.semcdb.2006.04.002openalex-snapshot
Wnt/PCP signaling: A veritable polar star in establishing patterns of polarity in embryonic tissues
inferredcites →https://doi.org/10.1016/j.tig.2004.09.003openalex-snapshot
Van Gogh-like2 (Strabismus) and its role in planar cell polarity and convergent extension in vertebrates
inferredcites →https://doi.org/10.1016/j.ydbio.2010.01.003openalex-snapshot
PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals
inferredcites →https://doi.org/10.1016/s0092-8674(00)80046-xopenalex-snapshot
Flamingo, a Seven-Pass Transmembrane Cadherin, Regulates Planar Cell Polarity under the Control of Frizzled
inferredcites →https://doi.org/10.1016/s0150-9861(04)96875-7openalex-snapshot
Spinal dysraphism: MR imaging rationale
inferredcites →https://doi.org/10.1016/s0165-3806(97)00099-0openalex-snapshot
Failure of neural tube closure in the loop-tail (Lp) mutant mouse: analysis of the embryonic mechanism
inferredcites →https://doi.org/10.1016/s0960-9822(03)00374-9openalex-snapshot
Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse
inferredcites →https://doi.org/10.1016/s1534-5807(01)00010-7openalex-snapshot
The Ankyrin Repeat Protein Diego Mediates Frizzled-Dependent Planar Polarization
inferredcites →https://doi.org/10.1016/s1534-5807(02)00176-4openalex-snapshot
Planar Signaling and Morphogenesis in Drosophila
inferredcites →https://doi.org/10.1016/s1534-5807(02)00197-1openalex-snapshot
Convergent Extension
inferredcites →https://doi.org/10.1038/329549a0openalex-snapshot
Directional non-cell autonomy and the transmission of polarity information by the frizzled gene of Drosophila
inferredcites →https://doi.org/10.1038/35011068openalex-snapshot
Silberblick/Wnt11 mediates convergent extension movements during zebrafish gastrulation
inferredcites →https://doi.org/10.1038/90081openalex-snapshot
Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail
inferredcites →https://doi.org/10.1038/nature02677openalex-snapshot
PTK7/CCK-4 is a novel regulator of planar cell polarity in vertebrates
inferredcites →https://doi.org/10.1038/ncb1784openalex-snapshot
Planar polarization in embryonic epidermis orchestrates global asymmetric morphogenesis of hair follicles
inferredcites →https://doi.org/10.1038/ncb1966openalex-snapshot
The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development
inferredcites →https://doi.org/10.1038/ng.435openalex-snapshot
Posterior malformations in Dact1 mutant mice arise through misregulated Vangl2 at the primitive streak
inferredcites →https://doi.org/10.1038/nrg1181openalex-snapshot
The genetic basis of mammalian neurulation
inferredcites →https://doi.org/10.1055/s-0033-1364103openalex-snapshot
Association between VANGL1 Gene Polymorphisms and Neural Tube Defects
inferredcites →https://doi.org/10.1056/nejmc0910820openalex-snapshot
VANGL2Mutations in Human Cranial Neural-Tube Defects
inferredcites →https://doi.org/10.1056/nejmoa060651openalex-snapshot
Mutations in VANGL1 Associated with Neural-Tube Defects
inferredcites →https://doi.org/10.1073/pnas.0712126105openalex-snapshot
Genetic interaction between members of the Vangl family causes neural tube defects in mice
inferredcites →https://doi.org/10.1093/gbe/evs096openalex-snapshot
Estimating the Rate of Irreversibility in Protein Evolution
inferredcites →https://doi.org/10.1093/genetics/150.1.199openalex-snapshot
Van Gogh: A New Drosophila Tissue Polarity Gene
inferredcites →https://doi.org/10.1093/hmg/10.22.2593openalex-snapshot
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification
inferredcites →https://doi.org/10.1093/hmg/ddg014openalex-snapshot
Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse
inferredcites →https://doi.org/10.1093/hmg/ddr359openalex-snapshot
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans
inferredcites →https://doi.org/10.1093/hmg/ddt558openalex-snapshot
Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway
inferredcites →https://doi.org/10.1093/oxfordjournals.jhered.a105976openalex-snapshot
HEREDITARY LOOP-TAIL IN THE HOUSE MOUSE
inferredcites →https://doi.org/10.1101/gad.13.17.2315openalex-snapshot
The balance between isoforms of the Prickle LIM domain protein is critical for planar polarity in Drosophila imaginal discs
inferredcites →https://doi.org/10.1111/j.1399-0004.2010.01515.xopenalex-snapshot
Contribution of VANGL2 mutations to isolated neural tube defects
inferredcites →https://doi.org/10.1146/annurev.neuro.29.051605.112933openalex-snapshot
NONCANONICAL WNT SIGNALING AND NEURAL POLARITY
inferredcites →https://doi.org/10.1159/000339668openalex-snapshot
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects
inferredcites →https://doi.org/10.1186/1471-213x-10-87openalex-snapshot
The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear
inferredcites →https://doi.org/10.1242/dev.00164openalex-snapshot
Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure
inferredcites →https://doi.org/10.1242/dev.01254openalex-snapshot
Interactions between Fat and Dachsous and the regulation of planar cell polarity in the Drosophila wing
inferredcites →https://doi.org/10.1242/dev.02347openalex-snapshot
Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation
inferredcites →https://doi.org/10.1242/dev.02641openalex-snapshot
Two separate molecular systems, Dachsous/Fat and Starry night/Frizzled,act independently to confer planar cell polarity
inferredcites →https://doi.org/10.1242/dev.10.1.73openalex-snapshot
Axial Elongation in the Mouse and its Retardation in Homozygous Looptail Mice
inferredcites →https://doi.org/10.1242/dev.120.2.347openalex-snapshot
dishevelled is required during wingless signaling to establish both cell polarity and cell identity
inferredcites →https://doi.org/10.1242/dev.124.20.4029openalex-snapshot
Drosophila tissue polarity requires the cell-autonomous activity of the fuzzy gene, which encodes a novel transmembrane protein
inferredcites →https://doi.org/10.1242/dev.125.6.1149openalex-snapshot
strabismus, a novel gene that regulates tissue polarity and cell fate decisions in Drosophila
inferredcites →https://doi.org/10.1242/dev.127.10.2227openalex-snapshot
Xwnt11is a target ofXenopusBrachyury: regulation of gastrulation movements via Dishevelled, but not through the canonical Wnt pathway
inferredcites →https://doi.org/10.1371/journal.pgen.1000259openalex-snapshot
Murine Dishevelled 3 Functions in Redundant Pathways with Dishevelled 1 and 2 in Normal Cardiac Outflow Tract, Cochlea, and Neural Tube Development
inferredcites →https://doi.org/10.1371/journal.pone.0092207openalex-snapshot
Identification of Novel CELSR1 Mutations in Spina Bifida
inferredcites →https://doi.org/10.1523/jneurosci.4698-05.2005openalex-snapshot
The Role of Frizzled3 and Frizzled6 in Neural Tube Closure and in the Planar Polarity of Inner-Ear Sensory Hair Cells
inferredcites →https://doi.org/10.3892/ijmm.10.1.11openalex-snapshot
Strabismus (STB)/Vang-like (VANGL) gene family (Review)

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4648583openalex-extracted
inferred← citeshttps://doi.org/10.1002/bdra.23489openalex-snapshot
Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma
inferred← citeshttps://doi.org/10.1002/humu.23397openalex-snapshot
Genetic contribution of retinoid-related genes to neural tube defects
inferred← citeshttps://doi.org/10.1002/jdn.70051openalex-snapshot
Integrative Analysis of Key Signalling Pathways in Neural Tube Defects: From Molecular Mechanisms to Therapeutic Strategies
inferred← citeshttps://doi.org/10.1002/mgg3.1710openalex-snapshot
The VANGL1 P384R variant cause both neural tube defect and Klippel‐Feil syndrome
inferred← citeshttps://doi.org/10.1007/s00335-017-9721-8openalex-snapshot
Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2
inferred← citeshttps://doi.org/10.1007/s00381-016-3310-0openalex-snapshot
Multiple neural tube defects: a rare combination of limited dorsal myeloschisis, diplomyelia with dorsal bony spur, sacral meningocoele, syringohydromyelia, and tethered cord
inferred← citeshttps://doi.org/10.1007/s00381-017-3545-4openalex-snapshot
Spina bifida: a prospective study from a single neurosurgical center based on the National Hospital in Niamey (Niger)
inferred← citeshttps://doi.org/10.1007/s00439-024-02647-4openalex-snapshot
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects
inferred← citeshttps://doi.org/10.1007/s12035-016-0164-0openalex-snapshot
MARK2/Par1b Insufficiency Attenuates DVL Gene Transcription via Histone Deacetylation in Lumbosacral Spina Bifida
inferred← citeshttps://doi.org/10.1016/bs.ctdb.2024.02.012openalex-snapshot
Neuromesodermal specification during head-to-tail body axis formation
inferred← citeshttps://doi.org/10.1016/j.celrep.2020.107677openalex-snapshot
Apical Restriction of the Planar Cell Polarity Component VANGL in Pancreatic Ducts Is Required to Maintain Epithelial Integrity
inferred← citeshttps://doi.org/10.1016/j.devcel.2025.04.026openalex-snapshot
Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis
inferred← citeshttps://doi.org/10.1016/j.reprotox.2016.09.015openalex-snapshot
Adverse effect of valproic acid on an in vitro gastrulation model entails activation of retinoic acid signaling
inferred← citeshttps://doi.org/10.1016/j.reprotox.2025.108936openalex-snapshot
Human organoids potentially boost research into environmental factors of neural tube defects
inferred← citeshttps://doi.org/10.1016/j.semcdb.2021.04.008openalex-snapshot
Planar cell polarity (PCP) proteins support spermatogenesis through cytoskeletal organization in the testis
inferred← citeshttps://doi.org/10.1016/j.yexcr.2017.10.026openalex-snapshot
VANGL2 interacts with integrin αv to regulate matrix metalloproteinase activity and cell adhesion to the extracellular matrix
inferred← citeshttps://doi.org/10.1080/87565641.2018.1439035openalex-snapshot
Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus
inferred← citeshttps://doi.org/10.1093/hmg/ddad171openalex-snapshot
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish
inferred← citeshttps://doi.org/10.1101/2023.04.14.23288478openalex-snapshot
Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson’s disease
inferred← citeshttps://doi.org/10.1101/2023.10.11.561909openalex-snapshot
Disrupted Endosomal Trafficking of the Vangl-Celsr Polarity Complex Underlies Congenital Anomalies in Trachea-Esophageal Morphogenesis
inferred← citeshttps://doi.org/10.1136/jmg-2023-109501openalex-snapshot
Exploring the association between congenital vertebral malformations and neural tube defects
inferred← citeshttps://doi.org/10.1152/ajpcell.00861.2024openalex-snapshot
PCP protein Prickle 1 regulates Sertoli cell and testis function via cytoskeletal organization through the recruitment of multiple regulatory proteins
inferred← citeshttps://doi.org/10.1186/s13023-024-03040-0openalex-snapshot
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
inferred← citeshttps://doi.org/10.1210/en.2015-1987openalex-snapshot
Planar Cell Polarity (PCP) Protein Vangl2 Regulates Ectoplasmic Specialization Dynamics via Its Effects on Actin Microfilaments in the Testes of Male Rats
inferred← citeshttps://doi.org/10.1242/dev.199695openalex-snapshot
New mouse models for high resolution and live imaging of planar cell polarity proteins in vivo
inferred← citeshttps://doi.org/10.3389/fped.2023.1126209openalex-snapshot
A quest for genetic causes underlying signaling pathways associated with neural tube defects
inferred← citeshttps://doi.org/10.3390/cells8101198openalex-snapshot
Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects
inferred← citeshttps://doi.org/10.3390/metabo5010164openalex-snapshot
Neural Tube Defects: From a Proteomic Standpoint
inferred← citeshttps://doi.org/10.7554/elife.53532openalex-snapshot
Mutations associated with human neural tube defects display disrupted planar cell polarity in Drosophila
inferred← citeshttps://doi.org/10.7939/r3r785v0dopenalex-snapshot
Role of Cecr2 and Candidate Modifier Genes of Cecr2 in the Neural Tube Defect Exencephaly
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