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

scientific article published on 15 February 2017

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 is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/HUMU.23153
P932PMC publication ID5513730
P698PubMed publication ID27925688

P50authorJames F. GusellaQ1602688
Richard H. FinnellQ48454483
Yonghui GaoQ125305844
Yihua BaoQ125305967
Jizhen ZouQ125306122
P2093author name stringMei Sun
Ting Zhang
Yu An
Xiaoli Chen
Bo Niu
Hua Xie
Bai-Lin Wu
Xiaoming Sheng
Zandong Li
Lei Rui
Hongyan Guan
Liu Guo
Siv Lam Hung
P2860cites workThe cell-polarity protein Par6 links Par3 and atypical protein kinase C to Cdc42Q22254751
Atypical protein kinase C is involved in the evolutionarily conserved par protein complex and plays a critical role in establishing epithelia-specific junctional structuresQ24290938
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisisQ24297844
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humansQ24322638
Identification of novel rare mutations of DACT1 in human neural tube defectsQ24324120
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defectsQ24337438
Strabismus, a novel gene that regulates tissue polarity and cell fate decisions in DrosophilaQ28261625
Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled familyQ28285378
Mutations in VANGL1 associated with neural-tube defectsQ28296545
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesisQ42638040
Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tailQ42653433
Involvement of ASIP/PAR-3 in the promotion of epithelial tight junction formation.Q44015055
Regulated protein-protein interaction between aPKC and PAR-3 plays an essential role in the polarization of epithelial cellsQ44186947
Phosphatidylinositol-3-kinase-atypical protein kinase C signaling is required for Wnt attraction and anterior-posterior axon guidance.Q46681526
A mirror-symmetric cell division that orchestrates neuroepithelial morphogenesis.Q47073150
A 90-degree rotation of the mitotic spindle changes the orientation of mitoses of zebrafish neuroepithelial cellsQ47074138
Interaction between PAR-3 and the aPKC-PAR-6 complex is indispensable for apical domain development of epithelial cellsQ47921771
Dishevelled promotes axon differentiation by regulating atypical protein kinase C.Q48142245
Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China.Q51812607
Developmental basis of severe neural tube defects in the loop-tail (Lp) mutant mouse: use of microsatellite DNA markers to identify embryonic genotype.Q52214343
Effects of retinoic acid on chick tail bud development.Q54080306
VANGL2 mutations in human cranial neural-tube defectsQ55671436
[Epidemiology of neural tube defects in China]Q69534962
Prevalence of spina bifida at birth--United States, 1983-1990: a comparison of two surveillance systemsQ71002833
Epidemiology of neural tube defectsQ81597065
Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han populationQ83742817
A series of normal stages in the development of the chick embryo. 1951Q29618726
Dishevelled controls cell polarity during Xenopus gastrulationQ29619295
Phosphorylation of the par polarity complex protein Par3 at serine 962 is mediated by aurora a and regulates its function in neuronal polarityQ30434079
The PAR proteins: fundamental players in animal cell polarizationQ30434403
A genome-wide screen for microdeletions reveals disruption of polarity complex genes in diverse human cancersQ30434796
The Par3/aPKC interaction is essential for end bud remodeling and progenitor differentiation during mammary gland morphogenesisQ30437640
Widely conserved signaling pathways in the establishment of cell polarityQ30437961
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.Q33480832
The polarity protein Pard3 is required for centrosome positioning during neurulationQ33820585
Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity.Q33874867
Novel mutations in VANGL1 in neural tube defectsQ33912301
Na,K-ATPase activity is required for formation of tight junctions, desmosomes, and induction of polarity in epithelial cellsQ33948740
Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndromeQ34056154
Secondary neurulation: Fate-mapping and gene manipulation of the neural tube in tail bud.Q34178309
Contribution of VANGL2 mutations to isolated neural tube defectsQ34400476
Molecular structure and assembly of the tight junction.Q34455527
Transgenic quail production by microinjection of lentiviral vector into the early embryo blood vesselsQ34515903
Genetics and development of neural tube defects.Q34552276
Detection of copy number variants reveals association of cilia genes with neural tube defectsQ34563191
Mutations in planar cell polarity gene SCRIB are associated with spina bifidaQ34902377
Identification of novel CELSR1 mutations in spina bifidaQ35121696
The roles of maternal Vangl2 and aPKC in Xenopus oocyte and embryo patterningQ35176660
Cell polarity: the ups and downs of the Par6/aPKC complexQ35187688
A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart diseaseQ35584084
Planar cell polarity genes and neural tube closure.Q35639986
Epithelial cell polarity genes are required for neural tube closureQ36084762
FZD6 is a novel gene for human neural tube defectsQ36352681
SEC14 and spectrin domains 1 (Sestd1) and Dapper antagonist of catenin 1 (Dact1) scaffold proteins cooperatively regulate the Van Gogh-like 2 (Vangl2) four-pass transmembrane protein and planar cell polarity (PCP) pathway during embryonic developmenQ37012349
Regulation of cell polarity during epithelial morphogenesisQ37087765
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defectsQ38048237
Polarity proteins control ciliogenesis via kinesin motor interactionsQ38337461
ASPP2 binds Par-3 and controls the polarity and proliferation of neural progenitors during CNS developmentQ38342608
Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control studyQ40353504
The apical/basal-polarity determinant Scribble cooperates with the PCP core factor Stbm/Vang and functions as one of its effectorsQ41520074
Role of tight junctions in establishing and maintaining cell polarity.Q41748269
Bone morphogenetic proteins regulate hinge point formation during neural tube closure by dynamic modulation of apicobasal polarityQ42422077
P433issue4
P921main subjectpathogenesisQ372016
P304page(s)378-389
P577publication date2017-02-15
P1433published inHuman MutationQ5937269
P1476titleRare 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
P478volume38

Reverse relations

cites work (P2860)
Q38763085Claudins are essential for cell shape changes and convergent extension movements during neural tube closure
Q98224394Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects
Q48317535Genetic contribution of retinoid-related genes to neural tube defects
Q111291538Interactions of Severe Acute Respiratory Syndrome Coronavirus 2 Protein E With Cell Junctions and Polarity PSD-95/Dlg/ZO-1-Containing Proteins
Q89157602Laminating the mammalian cortex during development: cell polarity protein function and Hippo signaling
Q58693974Par3 interacts with Prickle3 to generate apical PCP complexes in the vertebrate neural plate
Q36407760Quantitative Measurement of PARD3 Copy Number Variations in Human Neural Tube Defects

Search more.