Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene
- 20 May 2010
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 86 (6), 949-956
- https://doi.org/10.1016/j.ajhg.2010.04.012
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type IIIAmerican Journal of Human Genetics, 2009
- Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly SyndromeAmerican Journal of Human Genetics, 2009
- Restoration of renal function in zebrafish models of ciliopathiesPediatric Nephrology, 2008
- Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4Developmental Biology, 2008
- The Oak Ridge Polycystic Kidney mouse: Modeling ciliopathies of mice and menDevelopmental Dynamics, 2008
- Chapter Two Intraflagellar Transport (IFT)Current Topics in Developmental Biology, 2008
- Cilia and Developmental SignalingAnnual Review of Cell and Developmental Biology, 2007
- Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duborayaNature Genetics, 2006
- SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephalyHuman Genetics, 2005
- Structural Basis for Phosphodependent Substrate Selection and Orientation by the SCFCdc4 Ubiquitin LigaseCell, 2003