Genetics and biology of primary ciliary dyskinesia
- 11 September 2015
- journal article
- review article
- Published by Elsevier BV in Paediatric Respiratory Reviews
- Vol. 18, 18-24
- https://doi.org/10.1016/j.prrv.2015.09.001
Abstract
No abstract availableKeywords
This publication has 83 references indexed in Scilit:
- RFX3 Modulation of FOXJ1 regulation of cilia genes in the human airway epitheliumRespiratory Research, 2013
- Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary DyskinesiaAmerican Journal of Human Genetics, 2012
- Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body AsymmetryAmerican Journal of Human Genetics, 2012
- Ciliopathies: The Central Role of Cilia in a Spectrum of Pediatric DisordersThe Journal of Pediatrics, 2012
- Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1American Journal of Human Genetics, 2011
- Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1Gene, 2010
- Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm DefectsAmerican Journal of Human Genetics, 2009
- Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair AbnormalitiesAmerican Journal of Human Genetics, 2009
- DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein ArmAmerican Journal of Human Genetics, 2008
- The Evolution of Eukaryotic Cilia and Flagella as Motile and Sensory OrganellesAdvances in experimental medicine and biology, 2006