Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
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A novel mutation in CELSR1 is associated with hereditary lymphedemaFrizzled Receptors in Development and DiseaseInternational Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptorsRare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects.Is LMNB1 a susceptibility gene for neural tube defects in humans?ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease.Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.Detection of copy number variants reveals association of cilia genes with neural tube defects.Understanding cadherin EGF LAG seven-pass G-type receptors.Infantile hydrocephalus: a review of epidemiology, classification and causes.Identification of novel CELSR1 mutations in spina bifida.Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defectsTwo Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.Genetic aspects of congenital and idiopathic scoliosis.Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.Mouse as a model for multifactorial inheritance of neural tube defects.A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.Shaping the nervous system: role of the core planar cell polarity genes.Genetic evidence in planar cell polarity signaling pathway in human neural tube defects.Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.Adhesion GPCR-Related Protein Networks.Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans.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.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.Exome analysis in an Estonian multiplex family with neural tube defects-a case report.Transgenerational Inheritance of Familial Lipomyelomeningocele.Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.Digenic variants of planar cell polarity genes in human neural tube defect patients.Genetic analysis of Wnt/PCP genes in neural tube defects.G-protein-coupled receptor signaling and neural tube closure defects.Seven-Pass Transmembrane Cadherin CELSRs, and Fat4 and Dchs1 Cadherins: From Planar Cell Polarity to Three-Dimensional Organ Architecture
P2860
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P2860
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
@en
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
@nl
type
label
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
@en
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
@nl
prefLabel
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
@en
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
@nl
P2093
P2860
P356
P1476
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
@en
P2093
Elisa Merello
Patrizia De Marco
Redouane Allache
Valeria Capra
Zoha Kibar
P2860
P304
P356
10.1002/BDRA.23002
P577
2012-02-28T00:00:00Z