Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects (Q98224394)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32760237%20AND%20SRC:MED&resulttype=core&format=json

10 August 2020

title

Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects (English)

1 reference

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10 August 2020

1 reference

Amanda I Baumholtz

1

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10 August 2020

Patrizia De Marco

series ordinal

2

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10 August 2020

Valeria Capra

series ordinal

3

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10 August 2020

Aimee K Ryan

series ordinal

4

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10 August 2020

publication date

14 July 2020

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Frontiers in Neuroscience

10 August 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32760237%20AND%20SRC:MED&resulttype=core&format=json

10 August 2020

volume

14

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10 August 2020

page(s)

664

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Creative Commons Attribution 4.0 International

10 August 2020

copyright license

start time

14 July 2020

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7372130/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects

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Claudin Loss-of-Function Disrupts Tight Junctions and Impairs Amelogenesis

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Claudins are essential for cell shape changes and convergent extension movements during neural tube closure

10 February 2021

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Polar and charged extracellular residues conserved among barrier-forming claudins contribute to tight junction strand formation.

10 February 2021

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Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation

10 February 2021

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Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations

10 February 2021

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Describing the Prevalence of Neural Tube Defects Worldwide: A Systematic Literature Review

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Recurrent Fusion Genes in Gastric Cancer: CLDN18-ARHGAP26 Induces Loss of Epithelial Integrity

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Rho-kinase-dependent actin turnover and actomyosin disassembly are necessary for mouse spinal neural tube closure.

10 February 2021

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Assembly and function of claudins: Structure-function relationships based on homology models and crystal structures

10 February 2021

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Probing the cis-arrangement of prototype tight junction proteins claudin-1 and claudin-3

10 February 2021

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Proteomic analysis of proteins surrounding occludin and claudin-4 reveals their proximity to signaling and trafficking networks

10 February 2021

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Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

10 February 2021

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Claudin 4 knockout mice: normal physiological phenotype with increased susceptibility to lung injury.

10 February 2021

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Claudin 2 deficiency reduces bile flow and increases susceptibility to cholesterol gallstone disease in mice

10 February 2021

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Crystal structure of a claudin provides insight into the architecture of tight junctions

10 February 2021

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Knockout mice reveal key roles for claudin 18 in alveolar barrier properties and fluid homeostasis

10 February 2021

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Claudin-3 and claudin-5 protein folding and assembly into the tight junction are controlled by non-conserved residues in the transmembrane 3 (TM3) and extracellular loop 2 (ECL2) segments

10 February 2021

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Disturbed function of the blood-cerebrospinal fluid barrier aggravates neuro-inflammation.

10 February 2021

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The N and C termini of ZO-1 are surrounded by distinct proteins and functional protein networks

10 February 2021

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Claudin-4 deficiency results in urothelial hyperplasia and lethal hydronephrosis.

10 February 2021

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10 February 2021

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10 February 2021

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10 February 2021

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Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

10 February 2021

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Deficiency of Claudin-18 Causes Paracellular H+ Leakage, Up-regulation of Interleukin-1β, and Atrophic Gastritis in Mice

10 February 2021

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FZD6is a novel gene for human neural tube defects

10 February 2021

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Inflammation and Disruption of the Mucosal Architecture in Claudin-7–Deficient Mice

10 February 2021

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Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

10 February 2021

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10 February 2021

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10 February 2021

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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.

10 February 2021

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10 February 2021

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10 February 2021

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10 February 2021

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10 February 2021

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10 February 2021

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10 February 2021

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Alterations in heart looping induced by overexpression of the tight junction protein Claudin-1 are dependent on its C-terminal cytoplasmic tail

10 February 2021

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10 February 2021

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EphA2 phosphorylates the cytoplasmic tail of Claudin-4 and mediates paracellular permeability

10 February 2021

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Tight junctions in Schwann cells of peripheral myelinated axons: a lesson from claudin-19-deficient mice

10 February 2021

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Gene expression pattern of Claudin-1 during chick embryogenesis

10 February 2021

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Compartmentalization established by claudin-11-based tight junctions in stria vascularis is required for hearing through generation of endocochlear potential.

10 February 2021

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Frizzled6 controls hair patterning in mice

10 February 2021

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10 February 2021

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Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3

10 February 2021

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Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

10 February 2021

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Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse

10 February 2021

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Size-selective loosening of the blood-brain barrier in claudin-5-deficient mice

10 February 2021

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Neural tube closure requires Dishevelled-dependent convergent extension of the midline

10 February 2021

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Frizzled-3 is required for the development of major fiber tracts in the rostral CNS.

10 February 2021

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The planar cell polarity gene strabismus regulates convergence and extension and neural fold closure in Xenopus

10 February 2021

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Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice

10 February 2021

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Multi-PDZ domain protein 1 (MUPP1) is concentrated at tight junctions through its possible interaction with claudin-1 and junctional adhesion molecule

10 February 2021

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Cellular mechanisms of neural fold formation and morphogenesis in the chick embryo

10 February 2021

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10 February 2021

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CNS myelin and sertoli cell tight junction strands are absent in Osp/claudin-11 null mice

10 February 2021

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Sequence and structure-based prediction of eukaryotic protein phosphorylation sites

10 February 2021

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Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects.

10 February 2021

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Role of nonrandomly oriented cell division in shaping and bending of the neural plate

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

Molecular cloning and functional characterization of the receptor for Clostridium perfringens enterotoxin

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

Cooperative model of epithelial shaping and bending during avian neurulation: autonomous movements of the neural plate, autonomous movements of the epidermis, and interactions in the neural plate/epidermis transition zone.

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

Quantitative analyses of neuroepithelial cell shapes during bending of the mouse neural plate

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

Quantitative analyses of changes in cell shapes during bending of the avian neural plate

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

Cell cycle and neuroepithelial cell shape during bending of the chick neural plate

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

Identification of ZO-1: a high molecular weight polypeptide associated with the tight junction (zonula occludens) in a variety of epithelia

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

A reexamination of the role of microfilaments in neurulation in the chick embryo

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

ZO-1 and cingulin: tight junction proteins with distinct identities and localizations

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

Roles of neuroepithelial cell rearrangement and division in shaping of the avian neural plate

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

Cell movements driving neurulation in avian embryos

10 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7372130

10 February 2021

Identifiers

DOI

10.3389/FNINS.2020.00664

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32760237%20AND%20SRC:MED&resulttype=core&format=json

10 August 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32760237%20AND%20SRC:MED&resulttype=core&format=json

10 August 2020

PubMed publication ID

32760237

1 reference