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Year | Number of Results |
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2008 | 1 |
2014 | 2 |
2015 | 1 |
2016 | 1 |
2018 | 1 |
2024 | 0 |
PubMed (cited) for id: 615944
6 results
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Page 1
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
Eur J Hum Genet. 2018 Dec;26(12):1797-1809. doi: 10.1038/s41431-018-0222-3. Epub 2018 Aug 10.
Eur J Hum Genet. 2018.
PMID: 30097616
Free PMC article.
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.
Cortés CR, McInerney-Leo AM, Vogel I, Rondón Galeano MC, Leo PJ, Harris JE, Anderson LK, Keith PA, Brown MA, Ramsing M, Duncan EL, Zankl A, Wicking C.
Cortés CR, et al.
Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.
Sci Rep. 2016.
PMID: 27094867
Free PMC article.
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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL.
Srour M, et al.
Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.
Am J Hum Genet. 2015.
PMID: 26477546
Free PMC article.
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The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Pérez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, González-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Rivière JB, Attié-Bitach T, Garcia-Verdugo JM, Faivre L, Mégarbané A, Nachury MV.
Thauvin-Robinet C, et al.
Nat Genet. 2014 Aug;46(8):905-11. doi: 10.1038/ng.3031. Epub 2014 Jul 6.
Nat Genet. 2014.
PMID: 24997988
Free PMC article.
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C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.
Ye X, Zeng H, Ning G, Reiter JF, Liu A.
Ye X, et al.
Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2164-9. doi: 10.1073/pnas.1318737111. Epub 2014 Jan 27.
Proc Natl Acad Sci U S A. 2014.
PMID: 24469809
Free PMC article.
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C2cd3 is required for cilia formation and Hedgehog signaling in mouse.
Hoover AN, Wynkoop A, Zeng H, Jia J, Niswander LA, Liu A.
Hoover AN, et al.
Development. 2008 Dec;135(24):4049-58. doi: 10.1242/dev.029835. Epub 2008 Nov 12.
Development. 2008.
PMID: 19004860
Free PMC article.
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