Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
About this item
Full title
Author / Creator
Dafinger, Claudia , Liebau, Max Christoph , Elsayed, Solaf Mohamed , Hellenbroich, Yorck , Boltshauser, Eugen , Korenke, Georg Christoph , Fabretti, Francesca , Janecke, Andreas Robert , Ebermann, Inga , Nürnberg, Gudrun , Nürnberg, Peter , Zentgraf, Hanswalter , Koerber, Friederike , Addicks, Klaus , Elsobky, Ezzat , Benzing, Thomas , Schermer, Bernhard and Bolz, Hanno Jörn
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
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Scope and Contents
Contents
Joubert syndrome (JBTS) is characterized by a specific brain malformation with various additional pathologies. It results from mutations in any one of at least 10 different genes, including NPHP1, which encodes nephrocystin-1. JBTS has been linked to dysfunction of primary cilia, since the gene products known to be associated with the disorder loca...
Alternative Titles
Full title
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
Authors, Artists and Contributors
Author / Creator
Liebau, Max Christoph
Elsayed, Solaf Mohamed
Hellenbroich, Yorck
Boltshauser, Eugen
Korenke, Georg Christoph
Fabretti, Francesca
Janecke, Andreas Robert
Ebermann, Inga
Nürnberg, Gudrun
Nürnberg, Peter
Zentgraf, Hanswalter
Koerber, Friederike
Addicks, Klaus
Elsobky, Ezzat
Benzing, Thomas
Schermer, Bernhard
Bolz, Hanno Jörn
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3223820
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3223820
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI43639
