Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
By A. Ross, H. May-Simera, E. Eichers, M. Kai, Josephine Hill, D. Jagger, C. C. Leitch, J. Chapple, Peter M. G. Munro, S. Fisher and 14 more. Nature Genetics, 2005
623 citations recorded by the source corpus.
Subfields: Genetics, Molecular Biology, Pulmonary and Respiratory Medicine
View Paper: https://www.semanticscholar.org/paper/9586f3bedd5f1cb3567db9a77949a59357882215
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Citations in the corpus
- Emerging roles of Wnts in the adult nervous system (2010, background): “Mice with mutations in genes related to Bardet–Biedl syndrome and mice with Wnt–PCP pathway mutations have some common phenotypes, including open eyelids, neural tube defects and disrupted cochlear stereociliary bundle”
- Proximal events in Wnt signal transduction (2009, background): “cooperate with non-canonical Wnt signalling in planar cell polarit”
- The Primary Cilium as a Complex Signaling Center (2009, background): “However, several studies in zebrafish where cilia function has been abrogated using morpholino oligonucleotides to knockdown BBS genes resulted in embryos with a greatly expanded lateral axis and a reduced rostral-caudal axis [86,87].”
- The ciliopathies: an emerging class of human genetic disorders. (2006, background): “Additional evidence for the involvement of the BBS loci in the PCP pathway came from genetic crosses wherein the BBS genes interacted genetically in both mice and zebrafish with Vangl2, a known component of the noncanonical Wnt signaling cascade (115).”
- Ciliopathies: an expanding disease spectrum (2011, background): “Recently, co-inheritance of a truncating mutation in one PKD1 allele in trans with missense mutations in a second PKD1 allele has been shown in cases of PKD with onset in utero, in three pedigrees with otherwise typical ADPKD, suggesting a gene dosage effect in PKD [17].”