Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects
- 11 December 2009
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 85 (6), 883-889
- https://doi.org/10.1016/j.ajhg.2009.10.018
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesiaProceedings of the National Academy of Sciences of the United States of America, 2007
- Chlamydomonas Flagellar Outer Row Dynein Assembly Protein Oda7 Interacts with Both Outer Row and I1 Inner Row DyneinsPublished by Elsevier BV ,2007
- Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary DyskinesiaAmerican Journal of Respiratory and Critical Care Medicine, 2005
- Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesisDevelopment, 2005
- Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gutDevelopment, 2005
- Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetryNature Genetics, 2002
- The WFDC1 gene encoding ps20 localizes to 16q24, a region of LOH in multiple cancers.Mammalian Genome, 2000
- Three independently deleted regions at chromosome arm 16q in human prostate cancer: allelic loss at 16q24.1–q24.2 is associated with aggressive behaviour of the disease, recurrent growth, poor differentiation of the tumour and poor prognosis for the patientBritish Journal of Cancer, 1998
- Randomization of Left–Right Asymmetry due to Loss of Nodal Cilia Generating Leftward Flow of Extraembryonic Fluid in Mice Lacking KIF3B Motor ProteinCell, 1998
- The Role of Preassembled Cytoplasmic Complexes in Assembly of Flagellar Dynein SubunitsMolecular Biology of the Cell, 1998