Mutation of the Planar Cell Polarity Gene VANGL1 in Adolescent Idiopathic Scoliosis

No abstract is available for this paper.

• Publication year

  2017

• Venue

  Spine

• Publication date

  2017-06-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1097/BRS.0000000000001927PMID 27755493
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature

  2016cited by this paper
• A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.

  2016cited by this paper
• A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

  2015cited by this paper
• Functional variants of POC5 identified in patients with idiopathic scoliosis.

  2015cited by this paper
• Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

  2014cited by this paper
• ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease

  2014cited by this paper
• MutationTaster2: mutation prediction for the deep-sequencing age

  2014cited by this paper
• Neural tube defects.

  2014cited by this paper
• Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis

  2014cited by this paper
• Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting.

  2014cited by this paper
• Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

  2013cited by this paper
• Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes.

  2013cited by this paper
• Medical complication in adults with spina bifida.

  2013cited by this paper
• TGF-Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium

  2013cited by this paper
• Predicting the Functional Effect of Amino Acid Substitutions and Indels

  2012cited by this paper
• A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis

  2011cited by this paper
• Contribution of VANGL2 mutations to isolated neural tube defects

  2011cited by this paper
• Transmembrane topology of mammalian planar cell polarity protein Vangl1.

  2011cited by this paper
• Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.

  2011cited by this paper
• A method and server for predicting damaging missense mutations

  2010cited by this paper
• Vangl2 directs the posterior tilting and asymmetric localization of motile primary cilia

  2010cited by this paper
• VANGL2 mutations in human cranial neural-tube defects.

  2010cited by this paper
• Planar cell polarity breaks the bilateral symmetry by controlling ciliary positioning

  2010cited by this paper
• Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

  2009cited by this paper
• Adolescent idiopathic scoliosis.

  2008cited by this paper
• Mutations in VANGL1 associated with neural-tube defects.

  2007cited by this paper
• Secondary impairments in young adults with spina bifida

  2004cited by this paper
• Why does the Committee on Safety of Medicines do what it does?

  1979cited by this paper

• Cancer risk among women with scoliosis: a nationwide danish register-based study.

  2026cites this paper
• Long-term cancer risk in historic cohorts of patients with adolescent idiopathic scoliosis: a systematic review

  2025cites this paper
• Structural basis of human VANGL-PRICKLE interaction

  2025cites this paper
• Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations

  2024cites this paper
• Got WNTS? Insight into bone health from a WNT perspective.

  2023cites this paper
• Live imaging and conditional disruption of native PCP activity using endogenously tagged zebrafish sfGFP-Vangl2

  2022cites this paper
• Understanding Musculoskeletal Disorders Through Next-Generation Sequencing

  2022cites this paper
• Zebrafish: an important model for understanding scoliosis

  2022cites this paper
• Effets de l'estradiol et du chargement mécanique sur la régulation de la POC5 et du récepteur ADGRG7 dans la scoliose idiopathique

  2019cites this paper
• Etiology of Adolescent Idiopathic Scoliosis: A Literature Review

  2019cites this paper
• Etiopathogenesis of idiopathic scoliosis

  2019cites this paper
• Evidence of Intrinsic Impairment of Osteoblast Phenotype at the Curve Apex in Girls With Adolescent Idiopathic Scoliosis

  2019cites this paper
• Investigating Role of IRX Family in Development of Female Adolescent Idiopathic Scoliosis: Which One Is Real Cause?

  2019cites this paper
• Emergence of Zebrafish as a Model System for Understanding Human Scoliosis

  2018cites this paper
• Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology

  2018cites this paper
• Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis

  2017cites this paper
• Understanding Idiopathic Scoliosis: A New Zebrafish School of Thought.

  2017cites this paper
• VANGL1 Is Not Associated With the Susceptibility of Adolescent Idiopathic Scoliosis in the Chinese Population

  2017influential citation
• Planar cell polarity in development and disease

  2017cites this paper
• Wnt-induced Vangl2 phosphorylation is dose-dependently required for planar cell polarity in mammalian development

  2017cites this paper
• Cell Polarity in Morphogenesis—Planar Cell Polarity

  2017cites this paper