| pubmed-article:18674751 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18674751 | lifeskim:mentions | umls-concept:C0008778 | lld:lifeskim |
| pubmed-article:18674751 | lifeskim:mentions | umls-concept:C0431399 | lld:lifeskim |
| pubmed-article:18674751 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:18674751 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18674751 | lifeskim:mentions | umls-concept:C0023175 | lld:lifeskim |
| pubmed-article:18674751 | lifeskim:mentions | umls-concept:C1824213 | lld:lifeskim |
| pubmed-article:18674751 | lifeskim:mentions | umls-concept:C0376315 | lld:lifeskim |
| pubmed-article:18674751 | lifeskim:mentions | umls-concept:C0439858 | lld:lifeskim |
| pubmed-article:18674751 | lifeskim:mentions | umls-concept:C0443177 | lld:lifeskim |
| pubmed-article:18674751 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:18674751 | pubmed:dateCreated | 2008-8-5 | lld:pubmed |
| pubmed-article:18674751 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:abstractText | Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs. We identified mutations in ARL13B in two families with the classical form of JS. ARL13B belongs to the Ras GTPase family, and in other species is required for ciliogenesis, body axis formation, and renal function. The encoded Arl13b protein was expressed in developing murine cerebellum and localized to the cilia in primary neurons. Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs. | lld:pubmed |
| pubmed-article:18674751 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18674751 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18674751 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18674751 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18674751 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:18674751 | pubmed:issn | 1537-6605 | lld:pubmed |
| pubmed-article:18674751 | pubmed:author | pubmed-author:HildebrandtFr... | lld:pubmed |
| pubmed-article:18674751 | pubmed:author | pubmed-author:DobynsWilliam... | lld:pubmed |
| pubmed-article:18674751 | pubmed:author | pubmed-author:JohnsonColin... | lld:pubmed |
| pubmed-article:18674751 | pubmed:author | pubmed-author:ValenteEnza... | lld:pubmed |
| pubmed-article:18674751 | pubmed:author | pubmed-author:BrancatiFranc... | lld:pubmed |
| pubmed-article:18674751 | pubmed:author | pubmed-author:WoodsC... | lld:pubmed |
| pubmed-article:18674751 | pubmed:author | pubmed-author:Attié-BitachT... | lld:pubmed |
