The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Ciliopathies
Open accessAbstract
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that affect genes encoding proteins that localize to primary cilia or centrosomes. With few exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childhood or adolescence. NPHP-RC are genetically very heterogeneous, and, currently, mutations in more than 90 genes have been described as single-gene causes. The phenotypes of NPHP-RC are very diverse, and include cystic-fibrotic kidney disease, brain developmental defects, retinal degeneration, skeletal deformities, facial dimorphism, and, in some cases, laterality defects, and congenital heart disease. Mutations in the same gene can give rise to diverse phenotypes depending on the mutated allele. At the same time, there is broad phenotypic overlap between different monogenic genes. The identification of monogenic causes of ciliopathies has furthered the understanding of molecular mechanism and cellular pathways involved in the pathogenesis.
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Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331
Self-citationAbnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., et al. (2004) · Nature Genetics · doi:10.1038/ng1419 · Cited by 408
Bergmann, C., Fliegauf, M., Brüchle, N. O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kränzlin, B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.02.017 · Cited by 324
Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.005 · Cited by 194
Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease
Ma, M., Gallagher, A.-R., & Somlo, S. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028209 · Cited by 133
Cited by
Establishing and regulating the composition of cilia for signal transduction
Nachury, M. V., & Mick, D. U. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0116-4 · Cited by 397
May-Simera, H. L., Wan, Q., Jha, B. S., Hartford, J., Khristov, V., Dejene, R., Chang, J., Patnaik, S., Lu, Q., Banerjee, P., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2017.12.038 · Cited by 150
Neuronal and astrocytic primary cilia in the mature brain
Sterpka, A., & Chen, X. (2018) · Pharmacological Research · doi:10.1016/j.phrs.2018.10.002 · Cited by 80
Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis
Takahara, M., Katoh, Y., Nakamura, K., Hirano, T., Sugawa, M., Tsurumi, Y., & Nakayama, K. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddx421 · Cited by 62
Interaction of heterotrimeric kinesin-II with IFT-B–connecting tetramer is crucial for ciliogenesis
Funabashi, T., Katoh, Y., Okazaki, M., Sugawa, M., & Nakayama, K. (2018) · Journal of Cell Biology · doi:10.1083/jcb.201801039 · Cited by 65
Metadata
- Authors
- Braun, D. A., & Hildebrandt, F.
- Venue
- Cold Spring Harbor Perspectives in Biology
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2016-10-28
- Volume
- 9
- Issue
- 3
- Pages
- a028191
- ISSN
- 1943-0264 (ISSN-L)
- OpenAlex
- W4210952482
- Cited by
- 391
- References
- 5
- Type
- posted content
- Language
- en
- Open access
- bronze
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