Ciliary diseases with particular attention to primary ciliary dyskinesia;Zilienkrankheiten unter besonderer berücksichtigung der primären ziliären dyskinesie

Medizinische Genetik

Volumn 22, Issue 3, 2010, Pages 315-321

  Omran, H ^a   Olbrich, H ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Bronchiectasis; Ciliary dyskinesia; Dynein; Immotile cilia; Primary; Radial spoke

Indexed keywords

MOLECULAR MOTOR;

AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CILIARY DYSKINESIA; DISEASE ASSOCIATION; ELECTRON MICROSCOPY; EMBRYO DEVELOPMENT; HUMAN; LUNG CLEARANCE; MENTAL DEFICIENCY; MUCOCILIARY CLEARANCE; PHENOTYPE; PRIMARY CILIARY DYSKINESIA; RETINITIS PIGMENTOSA; REVIEW; SITUS INVERSUS; X CHROMOSOME LINKED DISORDER;

EID: 78349312455     PISSN: 09365931     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11825-010-0235-y     Document Type: Review

References (10)

1. Barbato A, Frischer T, Kuehni CE et al (2009) Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 34:1264-1276
2. Fliegauf M, Benzing T, Omran H (2007) Cilia: Hair-like oganelles with many links to disease. Nat Cell Biol 8:880-893
3. Fliegauf M, Olbrich H, Horvath J et al (2005) Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med 171:1343-1349
4. Hornef N, Olbrich H, Horvath J et al (2006) DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 174:120-126
5. Ibañez-Tallon I, Heintz N, Omran H (2003) To beat or not to beat, roles of cilia in development and disease. Hum Mol Genet 12:R27-R35
6. Loges NT, Olbrich H, Becker-Heck A et al (2009) Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet 85:883-889
7. Loges NT, Olbrich H, Fenske L et al (2008) DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 83:547-558
8. Olbrich H, Häffner K, Kispert A et al (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 30:143-144
9. Omran H, Kobayashi D, Olbrich H et al (2008) Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature 456:611-616
10. Zariwala MA, Knowles MR, Omran H (2006) Genetic defects in ciliary structure and function. Annu Rev Physiol 69:423-450