Ann Marie. Hynes, et.al., Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis., Proceedings of the National Academy of Sciences of the United States of America, 2014, 111

http://rdf.ncbi.nlm.nih.gov/pubmed/24946806

Ann Marie. Hynes, et.al., Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis., Proceedings of the National Academy of Sciences of the United States of America, 2014, 111

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• photoreceptor inner segment degeneration_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0008580129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• retinal degeneration_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0001326129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• polyuria_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0001762129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• kidney cysts_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0003675129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• hydroencephaly_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0001891129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• abnormal renal tubule epithelial cell primary cilium morphology_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0011066129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• abnormal kidney collecting duct morphology_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0004754129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• photoreceptor outer segment degeneration_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0008584129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• polydipsia_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0001426129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• abnormal cerebral hemisphere morphology_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0008540129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• thin retinal outer nuclear layer_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0008515129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• prenatal lethality, incomplete penetrance_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0011101B6J129P2Cep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi
• retinal outer nuclear layer degeneration_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>
  http://metadb.riken.jp/0008518129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi