Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
Open Access
- 1 April 2009
- journal article
- other
- Published by Elsevier in American Journal of Human Genetics
- Vol. 84 (4), 542-549
- https://doi.org/10.1016/j.ajhg.2009.03.015
Abstract
No abstract availableKeywords
This publication has 35 references indexed in Scilit:
- Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysisAmerican Journal of Medical Genetics Part A, 2008
- Intraflagellar transport, cilia, and mammalian Hedgehog signaling: Analysis in mouse embryonic fibroblastsDevelopmental Dynamics, 2008
- Dynein cleavage and microtubule accumulation in okadaic acid-treated neuronsNeuroscience Letters, 2008
- Cilia and Developmental SignalingAnnual Review of Cell and Developmental Biology, 2007
- Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte ciliaDevelopment, 2007
- Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patientsHuman Genetics, 2006
- Localization of Extracellular Matrix Receptors on the Chondrocyte Primary CiliumJournal of Histochemistry & Cytochemistry, 2006
- Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of GliDevelopmental Biology, 2005
- Dynein at the cortexCurrent Opinion in Cell Biology, 2002
- Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.Journal of Medical Genetics, 1985