Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies-Reference-Cited by-同舟云学术

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Published:2017-11-14 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Hammarsjö A.,Wang Z.,Vaz R.,Taylan F.^ORCID,Sedghi M.,Girisha K. M.,Chitayat D.,Neethukrishna K.,Shannon P.,Godoy R.,Gowrishankar K.,Lindstrand A.,Nasiri J.,Baktashian M.,Newton P. T.,Guo L.,Hofmeister W.,Pettersson M.,Chagin A. S.^ORCID,Nishimura G.,Yan L.,Matsumoto N.,Nordgren A.,Miyake N.,Grigelioniene G.,Ikegawa S.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-15442-1.pdf

Reference42 articles.

1. Fliegauf, M., Benzing, T. & Omran, H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 8, 880–893, https://doi.org/10.1038/nrm2278 (2007).

2. Reiter, J. F. & Leroux, M. R. Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol 18, 533–547, https://doi.org/10.1038/nrm.2017.60 (2017).

3. Bonafe, L. et al. Nosology and classification of genetic skeletal disorders: 2015 revision. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.37365 (2015).

4. Mitchison, H. M. & Valente, E. M. Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol 241, 294–309, https://doi.org/10.1002/path.4843 (2017).

5. Duran, I. et al. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Sci Rep 6, 34232, https://doi.org/10.1038/srep34232 (2016).

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