A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
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D. Trujillano | A. Rolfs | K. Girisha | A. Shukla | M. Hebbar | R. Kadavigere | G. Bhavani
[1] Gary W. Wood. Revision , 2018, Letters to a New Student.
[2] Sheila Unger,et al. Nosology and classification of genetic skeletal disorders: 2015 revision , 2015, American journal of medical genetics. Part A.
[3] N. Boddaert,et al. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype , 2015, Journal of Medical Genetics.
[4] E. Lorentzen,et al. Crystal structures of IFT70/52 and IFT52/46 provide insight into intraflagellar transport B core complex assembly , 2014, The Journal of cell biology.
[5] M. Schmidts. Clinical genetics and pathobiology of ciliary chondrodysplasias , 2014, Journal of Pediatric Genetics.
[6] Aimin Liu,et al. Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors , 2005, Development.
[7] P. Lefebvre,et al. The bld1 mutation identifies the Chlamydomonas osm-6 homolog as a gene required for flagellar assembly , 2001, Current Biology.
[8] J. Rosenbaum,et al. Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles , 2001, Current Biology.
[9] E. Ziegler. 4.2 The CDC and Euro Growth Charts. , 2015, World review of nutrition and dietetics.
[10] C. Spike,et al. Analysis of osm-6, a gene that affects sensory cilium structure and sensory neuron function in Caenorhabditis elegans. , 1998, Genetics.