Yazar "van Beersum, Sylvia E. C." için listeleme
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CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Gorden, Nicholas T.; Arts, Heleen H.; Parisi, Melissa A.; Coene, Karlien L. M.; Letteboer, Stef J. F.; van Beersum, Sylvia E. C.; Katsanis, Nicholas (Cell Press, 2008)Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. ... -
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Arts, Heleen H.; Doherty, Dan; van Beersum, Sylvia E. C.; Parisi, Melissa A.; Letteboer, Stef J. F.; Gorden, Nicholas T.; Roepman, Ronald (Nature Publishing Group, 2007)Protein- protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis ( NPHP), Leber congenital amaurosis, Senior- Loken syndrome ( SLSN) or ...
