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Year | Number of Results |
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2015 | 1 |
2016 | 1 |
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2020 | 1 |
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2024 | 0 |
PubMed (GeneRIF) for id: 9731
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CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
Arch Iran Med. 2021 May 1;24(5):364-373. doi: 10.34172/aim.2021.53.
Arch Iran Med. 2021.
PMID: 34196201
Free article.
Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.
Yamazoe T, Nagai T, Umeda S, Sugaya Y, Mizuno K.
Yamazoe T, et al.
J Biol Chem. 2020 Oct 23;295(43):14723-14736. doi: 10.1074/jbc.RA120.013334. Epub 2020 Aug 20.
J Biol Chem. 2020.
PMID: 32820051
Free PMC article.
Item in Clipboard
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Luo M, Cao L, Cao Z, Ma S, Shen Y, Yang D, Lu C, Lin Z, Liu Z, Yu Y, Cai R, Chen C, Gao H, Wang X, Cao M, Ma X.
Luo M, et al.
Mol Genet Genomic Med. 2019 Dec;7(12):e1004. doi: 10.1002/mgg3.1004. Epub 2019 Oct 18.
Mol Genet Genomic Med. 2019.
PMID: 31625690
Free PMC article.
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Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network.
Rezabkova L, Kraatz SH, Akhmanova A, Steinmetz MO, Kammerer RA.
Rezabkova L, et al.
J Biol Chem. 2016 Aug 26;291(35):18496-504. doi: 10.1074/jbc.M116.739771. Epub 2016 Jul 8.
J Biol Chem. 2016.
PMID: 27402853
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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