The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Open accessAbstract
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein. Individuals with CORS2 frequently had nephronophthisis and polydactyly, and two affected individuals conformed to the oro-facio-digital type VI phenotype, whereas skeletal dysplasia was common in fetuses affected by MKS. A single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent (n = 10). TMEM216 localized to the base of primary cilia, and loss of TMEM216 in mutant fibroblasts or after knockdown caused defective ciliogenesis and centrosomal docking, with concomitant hyperactivation of RhoA and Dishevelled. TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS. Disruption of tmem216 expression in zebrafish caused gastrulation defects similar to those in other ciliary morphants. These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders.
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Veeman, M. T., Axelrod, J. D., & Moon, R. T. (2003) · Developmental Cell · doi:10.1016/s1534-5807(03)00266-1 · Cited by 1,359
Dishevelled controls cell polarity during Xenopus gastrulation
Wallingford, J. B., Rowning, B. A., Vogeli, K. M., Rothbächer, U., Fraser, S. E., & Harland, R. M. (2000) · Nature · doi:10.1038/35011077 · Cited by 751
Lang, P., Gesbert, F., Delespine‐Carmagnat, M., Stancou, R., Pouchelet, M., & Bertoglio, J. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00383.x · Cited by 558
Winter, C. G., Wang, B., Ballew, A., Royou, A., Karess, R., Axelrod, J. D., & Luo, L. (2001) · Cell · doi:10.1016/s0092-8674(01)00298-7 · Cited by 555
Kif3a constrains β-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms
Corbit, K. C., Shyer, A. E., Dowdle, W. E., Gaulden, J., Singla, V., & Reiter, J. F. (2008) · Nature Cell Biology · doi:10.1038/ncb1670 · Cited by 509
Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., et al. (2007) · Nature Genetics · doi:10.1038/ng2039 · Cited by 495
Self-citationHigh-resolution DNA melting analysis: advancements and limitations
Wittwer, C. T. (2009) · Human Mutation · doi:10.1002/humu.20951 · Cited by 468
Park, T. J., Mitchell, B. J., Abitua, P. B., Kintner, C., & Wallingford, J. B. (2008) · Nature Genetics · doi:10.1038/ng.104 · Cited by 459
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Leitch, C. C., Zaghloul, N. A., Davis, E. E., Stoetzel, C., Diaz-Font, A., Rix, S., Alfadhel, M., Lewis, R. A., Eyaid, W., Banin, E., et al. (2008) · Nature Genetics · doi:10.1038/ng.97 · Cited by 406
Self-citationJunge, H. J., Yang, S., Burton, J. B., Paes, K., Shu, X., French, D. M., Costa, M., Rice, D. S., & Ye, W. (2009) · Cell · doi:10.1016/j.cell.2009.07.048 · Cited by 390
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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-citationSignaling through the Primary Cilium
Wheway, G., Nazlamova, L., & Hancock, J. T. (2018) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2018.00008 · Cited by 483
Braun, D. A., & Hildebrandt, F. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028191 · Cited by 391
Self-citationTTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics · doi:10.1038/ng.756 · Cited by 370
Self-citationJoubert syndrome: congenital cerebellar ataxia with the molar tooth
Romani, M., Micalizzi, A., & Valente, E. M. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70136-4 · Cited by 386
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Metadata
- Authors
- Valente, E. M., Logan, C. V., Mougou-Zerelli, S., Lee, J. H., Silhavy, J. L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., Adams, M., Szymanska, K., Mazzotta, A., Lee, J. E., Tolentino, J. C., Swistun, D., Salpietro, C. D., Fede, C., Gabriel, S., Russ, C., Cibulskis, K., Sougnez, C., Hildebrandt, F., Otto, E. A., Held, S., Diplas, B. H., Davis, E. E., Mikula, M., Strom, C. M., Ben-Zeev, B., Lev, D., Sagie, T. L., Michelson, M., Yaron, Y., Krause, A., Boltshauser, E., Elkhartoufi, N., Roume, J., Shalev, S., Munnich, A., Saunier, S., Inglehearn, C., Saad, A., Alkindy, A., Thomas, S., Vekemans, M., Dallapiccola, B., Katsanis, N., Johnson, C. A., Attié-Bitach, T., & Gleeson, J. G.
- Venue
- Nature Genetics
- Published
- 2010-05-30
- Volume
- 42
- Issue
- 7
- Pages
- 619-625
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1986170218
- Cited by
- 283
- References
- 34
- FWCI
- 17.10
- Type
- journal article
- Language
- en
- Open access
- green
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- Valente, E. M., Logan, C. V., Mougou-Zerelli, S., Lee, J. H., Silhavy, J. L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., Adams, M., Szymanska, K., Mazzotta, A., Lee, J. E., Tolentino, J. C., Swistun, D., Salpietro, C. D., Fede, C., Gabriel, S., . . . Gleeson, J. G. (2010). Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. https://doi.org/10.1038/ng.594
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