Escudier E - Search Results

1

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.

Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE. Bustamante-Marin XM, et al. Among authors: escudier e. Am J Hum Genet. 2019 Feb 7;104(2):229-245. doi: 10.1016/j.ajhg.2018.12.009. Epub 2019 Jan 18. Am J Hum Genet. 2019. PMID: 30665704 Free PMC article.

2

Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.

Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S. Chapelin C, et al. Among authors: escudier e. FEBS Lett. 1997 Jul 28;412(2):325-30. doi: 10.1016/s0014-5793(97)00800-4. FEBS Lett. 1997. PMID: 9256245 Free article.

3

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clément A, Goossens M, Amselem S, Duriez B. Pennarun G, et al. Among authors: escudier e. Am J Hum Genet. 1999 Dec;65(6):1508-19. doi: 10.1086/302683. Am J Hum Genet. 1999. PMID: 10577904 Free PMC article.

4

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. Pennarun G, et al. Among authors: escudier e. Hum Genet. 2000 Dec;107(6):642-9. doi: 10.1007/s004390000427. Hum Genet. 2000. PMID: 11153919

5

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

Pennarun G, Bridoux AM, Escudier E, Dastot-Le Moal F, Cacheux V, Amselem S, Duriez B. Pennarun G, et al. Among authors: escudier e. Am J Respir Cell Mol Biol. 2002 Mar;26(3):362-70. doi: 10.1165/ajrcmb.26.3.4738. Am J Respir Cell Mol Biol. 2002. PMID: 11867345

6

[Molecular basis of the primary ciliary dyskinesias].

Moore A, Amselem S, Duriez B, Escudier E. Moore A, et al. Among authors: escudier e. Rev Mal Respir. 2004 Jun;21(3 Pt 1):521-6. doi: 10.1016/s0761-8425(04)71356-x. Rev Mal Respir. 2004. PMID: 15292844 Review. French.

7

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S. Moore A, et al. Among authors: escudier e. J Med Genet. 2006 Apr;43(4):326-33. doi: 10.1136/jmg.2005.034868. Epub 2005 Jul 31. J Med Genet. 2006. PMID: 16055928 Free PMC article.

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. Zariwala MA, et al. Among authors: escudier e. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20. Am J Respir Crit Care Med. 2006. PMID: 16858015 Free PMC article.

9

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. Duriez B, et al. Among authors: escudier e. Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3336-41. doi: 10.1073/pnas.0611405104. Epub 2007 Feb 20. Proc Natl Acad Sci U S A. 2007. PMID: 17360648 Free PMC article.

10

A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme.

Zhang Z, Zariwala MA, Mahadevan MM, Caballero-Campo P, Shen X, Escudier E, Duriez B, Bridoux AM, Leigh M, Gerton GL, Kennedy M, Amselem S, Knowles MR, Strauss JF 3rd. Zhang Z, et al. Among authors: escudier e. Biol Reprod. 2007 Nov;77(5):864-71. doi: 10.1095/biolreprod.107.063206. Epub 2007 Aug 15. Biol Reprod. 2007. PMID: 17699735

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