Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1
- 13 May 2011
- journal article
- case report
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 88 (5), 599-607
- https://doi.org/10.1016/j.ajhg.2011.03.018
Abstract
No abstract availableThis publication has 40 references indexed in Scilit:
- The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formationNature Genetics, 2010
- CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsNature Genetics, 2010
- An Outer Arm Dynein Conformational Switch Is Required for Metachronal Synchrony of Motile Cilia in PlanariaMolecular Biology of the Cell, 2010
- Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 GeneAmerican Journal of Human Genetics, 2010
- Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary DyskinesiaAmerican Journal of Human Genetics, 2009
- 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
- Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneinsNature, 2008
- Partially Functional Outer-Arm Dynein in a Novel Chlamydomonas Mutant Expressing a Truncated γ Heavy ChainEukaryotic Cell, 2008
- Structural analysis of leucine-rich-repeat variants in proteins associated with human diseasesCellular and Molecular Life Sciences, 2005