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Items: 1 to 20 of 29

1.

DNAI1 mutations explain only 2% of primary ciliary dykinesia.

Failly M, Saitta A, Muñoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL.

Respiration. 2008;76(2):198-204. doi: 10.1159/000128567. Epub 2008 Apr 23.

PMID:
18434704
2.

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L.

Hum Mutat. 2008 Feb;29(2):289-98.

PMID:
18022865
3.

When cilia go bad: cilia defects and ciliopathies.

Fliegauf M, Benzing T, Omran H.

Nat Rev Mol Cell Biol. 2007 Nov;8(11):880-93. Review. Erratum in: Nat Rev Mol Cell Biol. 2008 Jan;9(1):88.

PMID:
17955020
4.

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia.

Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala MA, Knowles MR.

Circulation. 2007 Jun 5;115(22):2814-21. Epub 2007 May 21.

5.

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.

Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S.

Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3336-41. Epub 2007 Feb 20. Erratum in: Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6490.

6.

The nonsense-mediated decay RNA surveillance pathway.

Chang YF, Imam JS, Wilkinson MF.

Annu Rev Biochem. 2007;76:51-74. Review.

PMID:
17352659
7.

Genetic defects in ciliary structure and function.

Zariwala MA, Knowles MR, Omran H.

Annu Rev Physiol. 2007;69:423-50. Review.

PMID:
17059358
8.

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR.

Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. Epub 2006 Jul 20.

9.

Identification of novel lung genes in bronchial epithelium by serial analysis of gene expression.

Lonergan KM, Chari R, Deleeuw RJ, Shadeo A, Chi B, Tsao MS, Jones S, Marra M, Ling V, Ng R, Macaulay C, Lam S, Lam WL.

Am J Respir Cell Mol Biol. 2006 Dec;35(6):651-61. Epub 2006 Jun 29.

PMID:
16809635
10.

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H.

Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20.

11.

The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1.

Rashid S, Breckle R, Hupe M, Geisler S, Doerwald N, Neesen J.

Mol Reprod Dev. 2006 Jun;73(6):784-94.

PMID:
16496424
12.

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.

Olbrich H, Horváth J, Fekete A, Loges NT, Storm van's Gravesande K, Blum A, Hörmann K, Omran H.

Pediatr Res. 2006 Mar;59(3):418-22.

PMID:
16492982
13.

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.

Pazour GJ, Agrin N, Walker BL, Witman GB.

J Med Genet. 2006 Jan;43(1):62-73. Epub 2005 Jun 3.

14.

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

Fliegauf M, Olbrich H, Horvath J, Wildhaber JH, Zariwala MA, Kennedy M, Knowles MR, Omran H.

Am J Respir Crit Care Med. 2005 Jun 15;171(12):1343-9. Epub 2005 Mar 4.

15.

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions.

Geremek M, Witt M.

J Appl Genet. 2004;45(3):347-61. Review.

PMID:
15306728
16.

Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations.

Kispert A, Petry M, Olbrich H, Volz A, Ketelsen UP, Horvath J, Melkaoui R, Omran H, Zariwala M, Noone PG, Knowles M.

Thorax. 2003 Jun;58(6):552-4. No abstract available.

17.

To beat or not to beat: roles of cilia in development and disease.

Ibañez-Tallon I, Heintz N, Omran H.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R27-35. Review.

PMID:
12668594
18.

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE.

Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. Epub 2002 Jul 25.

19.

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H.

Nat Genet. 2002 Feb;30(2):143-4. Epub 2002 Jan 14.

PMID:
11788826
20.

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.

Pennarun G, Chapelin C, Escudier E, Bridoux AM, Dastot F, Cacheux V, Goossens M, Amselem S, Duriez B.

Hum Genet. 2000 Dec;107(6):642-9.

PMID:
11153919

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