ArticleHuman molecular genetics2019
Dominant negative GPR161 rare variants are risk factors of human spina bifida.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 37 citations in OpenAlex.
- International Union of Basic and Clinical Pharmacology. CXXII. Applying an objective evaluation to the status of class A orphan G protein-coupled receptors.Pharmacological reviews · 2026Review
- Light- and chemical-induced ciliary signaling governs dorsal/ventral regionalization of human telencephalic organoids.Nature communications · 2026Article
- GPR161-GLI3 repressor signaling at cilia directs apical constriction and cell fate during cranial neural tube closure.Development (Cambridge, England) · 2025Article
- Identification of novel interacting proteins of FUZ and GPR161.bioRxiv : the preprint server for biology · 2025Article
- A single-cell atlas of spatial and temporal gene expression in the mouse cranial neural plate.eLife · 2025Article
- A defined tubby domain β-barrel surface region of TULP3 mediates ciliary trafficking of diverse cargoes.Molecular biology of the cell · 2025Article
- Linkage between Fuz and Gpr161 genes regulates sonic hedgehog signaling during mouse neural tube development.Development (Cambridge, England) · 2024Article
- GPR161 structure uncovers the redundant role of sterol-regulated ciliary cAMP signaling in the Hedgehog pathway.Nature structural & molecular biology · 2024Article
- The novel linkage betweenbioRxiv : the preprint server for biology · 2024Article
- A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.European journal of neurology · 2024Article
- Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development.Disease models & mechanisms · 2023Article
- GPR161 structure uncovers the redundant role of sterol-regulated ciliary cAMP signaling in the Hedgehog pathway.bioRxiv : the preprint server for biology · 2023Article
- Deficiency ofFrontiers in cell and developmental biology · 2023Article
- Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.American journal of medical genetics. Part A · 2022Article
- Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Ciliary and extraciliary Gpr161 pools repress hedgehog signaling in a tissue-specific manner.eLife · 2021Article
- Identification of new candidate genes for spina bifida through exome sequencing.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Developmental and regenerative paradigms of cilia regulated hedgehog signaling.Seminars in cell & developmental biology · 2021Review
- Article
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
Spina bifida (SB) is a complex disorder of failed neural tube closure during the first month of human gestation, with a suspected etiology involving multiple gene and environmental interactions. GPR161 is a ciliary G-protein coupled receptor that regulates Sonic Hedgehog (Shh) signaling. Gpr161 null and hypomorphic mutations cause neural tube defects (NTDs) in mouse models. Herein we show that several genes involved in Shh and Wnt signaling were differentially expressed in the Gpr161 null embryos using RNA-seq analysis. To determine whether there exists an association between GPR161 and SB in humans, we performed direct Sanger sequencing on the GPR161 gene in a cohort of 384 SB patients and 190 healthy controls. We identified six rare variants of GPR161 in six SB cases, of which two of the variants were novel and did not exist in any databases. Both of these variants were predicted to be damaging by SIFT and/or PolyPhen analysis. The novel GPR161 rare variants mislocalized to the primary cilia, dysregulated Shh and Wnt signaling and inhibited cell proliferation in vitro. Our results demonstrate that GPR161 mutations cause NTDs via dysregulation of Shh and Wnt signaling in mice, and novel rare variants of GPR161 can be risk factors for SB in humans.
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