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Year | Number of Results |
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PubMed (cited) for id: 601723
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Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Ophthalmic Genet. 2022 Dec;43(6):809-816. doi: 10.1080/13816810.2022.2144905.
Ophthalmic Genet. 2022.
PMID: 36695497
Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.
Jiang Y, Ouyang J, Li S, Xiao X, Sun W, Zhang Q.
Jiang Y, et al.
Mol Vis. 2021 Jan 20;27:50-60. eCollection 2021.
Mol Vis. 2021.
PMID: 33633439
Free PMC article.
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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.
Aubert-Mucca M, Pernin-Grandjean J, Marchasson S, Gaston V, Habib C, Meunier I, Sigaudy S, Kaplan J, Roche O, Denis D, Bitoun P, Haye D, Verloes A, Calvas P, Chassaing N, Plaisancié J.
Aubert-Mucca M, et al.
Eur J Hum Genet. 2021 Jan;29(1):131-140. doi: 10.1038/s41431-020-0695-8. Epub 2020 Jul 31.
Eur J Hum Genet. 2021.
PMID: 32737437
Free PMC article.
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A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
Liu C, Widen SA, Williamson KA, Ratnapriya R, Gerth-Kahlert C, Rainger J, Alur RP, Strachan E, Manjunath SH, Balakrishnan A, Floyd JA; UK10K Consortium; Li T, Waskiewicz A, Brooks BP, Lehmann OJ, FitzPatrick DR, Swaroop A.
Liu C, et al.
Hum Mol Genet. 2016 Apr 1;25(7):1382-91. doi: 10.1093/hmg/ddw020. Epub 2016 Jan 24.
Hum Mol Genet. 2016.
PMID: 26908622
Free PMC article.
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A member of the Frizzled protein family mediating axis induction by Wnt-5A.
He X, Saint-Jeannet JP, Wang Y, Nathans J, Dawid I, Varmus H.
He X, et al.
Science. 1997 Mar 14;275(5306):1652-4. doi: 10.1126/science.275.5306.1652.
Science. 1997.
PMID: 9054360
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A large family of putative transmembrane receptors homologous to the product of the Drosophila tissue polarity gene frizzled.
Wang Y, Macke JP, Abella BS, Andreasson K, Worley P, Gilbert DJ, Copeland NG, Jenkins NA, Nathans J.
Wang Y, et al.
J Biol Chem. 1996 Feb 23;271(8):4468-76. doi: 10.1074/jbc.271.8.4468.
J Biol Chem. 1996.
PMID: 8626800
Free article.
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