Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 64

1.

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma.

Raynal C, Girodon E, Audrezet MP, Cabet F, Pagin A, Reboul MP, Dufernez F, Fergelot P, Bergougnoux A, Fanen P, Ferec C, Bienvenu T.

Br J Dermatol. 2019 Jul 16. doi: 10.1111/bjd.18162. [Epub ahead of print] No abstract available.

PMID:
31310009
2.

Renal Infarction and Its Consequences for Renal Function in Patients With Cardiac Amyloidosis.

Dang J, Abulizi M, Moktefi A, El Karoui K, Deux JF, Bodez D, Le Bras F, Belhadj K, Remy P, Issaurat P, Plante-Bordeneuve V, Molinier-Frenkel V, Fanen P, Guendouz S, Kharoubi M, Itti E, Damy T, Audard V.

Mayo Clin Proc. 2019 Jun;94(6):961-975. doi: 10.1016/j.mayocp.2019.02.012. Epub 2019 May 15.

PMID:
31103217
3.

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Pranke I, Bidou L, Martin N, Blanchet S, Hatton A, Karri S, Cornu D, Costes B, Chevalier B, Tondelier D, Girodon E, Coupet M, Edelman A, Fanen P, Namy O, Sermet-Gaudelus I, Hinzpeter A.

ERJ Open Res. 2018 Feb 23;4(1). pii: 00080-2017. doi: 10.1183/23120541.00080-2017. eCollection 2018 Jan. Erratum in: ERJ Open Res. 2018 Jul 13;4(3):.

4.

Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.

Baatallah N, Bitam S, Martin N, Servel N, Costes B, Mekki C, Chevalier B, Pranke I, Simonin J, Girodon E, Hoffmann B, Mornon JP, Callebaut I, Sermet-Gaudelus I, Fanen P, Edelman A, Hinzpeter A.

Hum Mutat. 2018 Apr;39(4):506-514. doi: 10.1002/humu.23389. Epub 2018 Jan 16.

PMID:
29271547
5.

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate.

AlAnazi A, Epaud R, Heena H, de Becdelievre A, Miqdad AM, Fanen P.

Ann Thorac Med. 2017 Jul-Sep;12(3):213-215. doi: 10.4103/atm.ATM_386_16.

6.

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Nattes E, Lejeune S, Carsin A, Borie R, Gibertini I, Balinotti J, Nathan N, Marchand-Adam S, Thumerelle C, Fauroux B, Bosdure E, Houdouin V, Delestrain C, Louha M, Couderc R, De Becdelievre A, Fanen P, Funalot B, Crestani B, Deschildre A, Dubus JC, Epaud R.

Respir Med. 2017 Aug;129:16-23. doi: 10.1016/j.rmed.2017.05.014. Epub 2017 May 26.

7.

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.

Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28.

PMID:
28603918
8.

The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.

Hinzpeter A, Reboul MP, Callebaut I, Zordan C, Costes B, Guichoux J, Iron A, Lacombe D, Martin N, Arveiler B, Fanen P, Fergelot P, Girodon E.

Clin Case Rep. 2017 Mar 30;5(5):658-663. doi: 10.1002/ccr3.760. eCollection 2017 May.

9.

Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE).

Gorram F, Alarcon F, Perdry H, Hébrard B, Damy T, Fanen P, Funalot B, Nuel G, Planté-Bordeneuve V.

Amyloid. 2017 Mar;24(sup1):115-116. doi: 10.1080/13506129.2017.1293515. No abstract available.

PMID:
28434346
10.

Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.

Delestrain C, Simon S, Aissat A, Medina R, Decrouy X, Nattes E, Tarze A, Costes B, Fanen P, Epaud R.

Eur J Hum Genet. 2017 Jun;25(6):779-782. doi: 10.1038/ejhg.2017.36. Epub 2017 Mar 15.

11.

[Cardiac amyloidosis: How to recognize them and manage them?]

Bodez D, Galat A, Guellich A, Deux JF, Rosso J, Le Bras F, Funalot B, Fanen P, Benhaiem N, Planté-Bordeneuve V, Dubois-Randé JL, Lellouche N, Guendouz S, Molinier-Frenkel V, Mohty D, Damy T.

Presse Med. 2016 Oct;45(10):845-855. doi: 10.1016/j.lpm.2016.07.001. Epub 2016 Aug 1. French.

PMID:
27492996
12.

New use for an old drug: COX-independent anti-inflammatory effects of sulindac in models of cystic fibrosis.

Rocca J, Manin S, Hulin A, Aissat A, Verbecq-Morlot W, Prulière-Escabasse V, Wohlhuter-Haddad A, Epaud R, Fanen P, Tarze A.

Br J Pharmacol. 2016 Jun;173(11):1728-41. doi: 10.1111/bph.13464. Epub 2016 Apr 21.

13.

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

Hinzpeter A, de Becdelièvre A, Bieth E, Gameiro C, Brémont F, Martin N, Costes B, Costa C, Aissat A, Lorot A, Prulière-Escabasse V, Goossens M, Fanen P, Girodon E.

Hum Mutat. 2014 Jul;35(7):805-8. doi: 10.1002/humu.22548. Epub 2014 Apr 9.

14.

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies.

Fanen P, Wohlhuter-Haddad A, Hinzpeter A.

Int J Biochem Cell Biol. 2014 Jul;52:94-102. doi: 10.1016/j.biocel.2014.02.023. Epub 2014 Mar 12. Review.

15.

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.

Epaud R, Delestrain C, Louha M, Simon S, Fanen P, Tazi A.

Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17. No abstract available.

16.

COMMD1 modulates noxious inflammation in cystic fibrosis.

de Becdelièvre A, Rocca J, Aissat A, Drévillon L, Moutereau S, Le Gouvello S, Hinzpeter A, Tarze A, Fanen P.

Int J Biochem Cell Biol. 2013 Nov;45(11):2402-9. doi: 10.1016/j.biocel.2013.07.012. Epub 2013 Jul 24.

PMID:
23892095
17.

[Lung diseases in children associated with inherited disorders of surfactant metabolism].

Delestrain C, Flamein F, Jonard L, Couderc R, Guillot L, Fanen P, Epaud R.

Rev Pneumol Clin. 2013 Aug;69(4):183-9. doi: 10.1016/j.pneumo.2013.05.002. Epub 2013 Jul 12. Review. French.

PMID:
23856024
18.

Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.

Aissat A, de Becdelièvre A, Golmard L, Vasseur C, Costa C, Chaoui A, Martin N, Costes B, Goossens M, Girodon E, Fanen P, Hinzpeter A.

Hum Mutat. 2013 Jun;34(6):873-81. doi: 10.1002/humu.22300. Epub 2013 Mar 28.

19.

Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

Hinzpeter A, Aissat A, de Becdelièvre A, Bieth E, Sondo E, Martin N, Costes B, Costa C, Goossens M, Galietta LJ, Girodon E, Fanen P.

Hum Mutat. 2013 Feb;34(2):287-91. doi: 10.1002/humu.22236. Epub 2012 Nov 8.

PMID:
23065710
20.

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

El-Seedy A, Girodon E, Norez C, Pajaud J, Pasquet MC, de Becdelièvre A, Bienvenu T, des Georges M, Cabet F, Lalau G, Bieth E, Blayau M, Becq F, Kitzis A, Fanen P, Ladeveze V.

Hum Mutat. 2012 Nov;33(11):1557-65. doi: 10.1002/humu.22129. Epub 2012 Jul 2.

PMID:
22678879
21.

[Genetic disorders of surfactant].

Epaud R, Jonard L, Ducou-le-Pointe H, Delestrain C, Fanen P, Guillot L, Flamein F.

Arch Pediatr. 2012 Feb;19(2):212-9. doi: 10.1016/j.arcped.2011.12.004. Epub 2012 Jan 9. Review. French.

PMID:
22236549
22.

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.

Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E.

J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23.

23.

COMMD1-mediated ubiquitination regulates CFTR trafficking.

Drévillon L, Tanguy G, Hinzpeter A, Arous N, de Becdelièvre A, Aissat A, Tarze A, Goossens M, Fanen P.

PLoS One. 2011 Mar 31;6(3):e18334. doi: 10.1371/journal.pone.0018334.

24.

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

Hinzpeter A, Aissat A, Sondo E, Costa C, Arous N, Gameiro C, Martin N, Tarze A, Weiss L, de Becdelièvre A, Costes B, Goossens M, Galietta LJ, Girodon E, Fanen P.

PLoS Genet. 2010 Oct 7;6(10). pii: e1001153. doi: 10.1371/journal.pgen.1001153.

25.

Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators.

Caputo A, Hinzpeter A, Caci E, Pedemonte N, Arous N, Di Duca M, Zegarra-Moran O, Fanen P, Galietta LJ.

J Pharmacol Exp Ther. 2009 Sep;330(3):783-91. doi: 10.1124/jpet.109.154146. Epub 2009 Jun 2.

26.

Dose-response effect of serum butyrylcholinesterase activity after clinical doses of pancuronium.

Motamed C, Fanen P, Feiss P, Kirov K, Duvaldestin P.

Eur J Clin Pharmacol. 2008 Nov;64(11):1043-5. doi: 10.1007/s00228-008-0548-9. Epub 2008 Sep 3.

PMID:
18766333
27.

Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.

Caci E, Caputo A, Hinzpeter A, Arous N, Fanen P, Sonawane N, Verkman AS, Ravazzolo R, Zegarra-Moran O, Galietta LJ.

Biochem J. 2008 Jul 1;413(1):135-42. doi: 10.1042/BJ20080029.

PMID:
18366345
28.

CSN5 binds to misfolded CFTR and promotes its degradation.

Tanguy G, Drévillon L, Arous N, Hasnain A, Hinzpeter A, Fritsch J, Goossens M, Fanen P.

Biochim Biophys Acta. 2008 Jun;1783(6):1189-99. doi: 10.1016/j.bbamcr.2008.01.010. Epub 2008 Jan 26.

29.

Modulation of epithelial sodium channel trafficking and function by sodium 4-phenylbutyrate in human nasal epithelial cells.

Prulière-Escabasse V, Planès C, Escudier E, Fanen P, Coste A, Clerici C.

J Biol Chem. 2007 Nov 23;282(47):34048-57. Epub 2007 Sep 21.

30.

Cell-specific posttranscriptional regulation of CFTR gene expression via influence of MAPK cascades on 3'UTR part of transcripts.

Baudouin-Legros M, Hinzpeter A, Jaulmes A, Brouillard F, Costes B, Fanen P, Edelman A.

Am J Physiol Cell Physiol. 2005 Nov;289(5):C1240-50. Epub 2005 Jun 8.

31.

Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.

Clain J, Lehmann-Che J, Duguépéroux I, Arous N, Girodon E, Legendre M, Goossens M, Edelman A, de Braekeleer M, Teulon J, Fanen P.

Hum Mutat. 2005 Apr;25(4):360-71.

PMID:
15776432
32.

A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.

Clain J, Lehmann-Che J, Girodon E, Lipecka J, Edelman A, Goossens M, Fanen P.

Hum Genet. 2005 May;116(6):454-60. Epub 2005 Mar 3.

PMID:
15744523
33.

Global proteomic approach unmasks involvement of keratins 8 and 18 in the delivery of cystic fibrosis transmembrane conductance regulator (CFTR)/deltaF508-CFTR to the plasma membrane.

Davezac N, Tondelier D, Lipecka J, Fanen P, Demaugre F, Debski J, Dadlez M, Schrattenholz A, Cahill MA, Edelman A.

Proteomics. 2004 Dec;4(12):3833-44.

PMID:
15529338
34.

Biochemical methods to assess CFTR expression and membrane localization.

Farinha CM, Penque D, Roxo-Rosa M, Lukacs G, Dormer R, McPherson M, Pereira M, Bot AG, Jorna H, Willemsen R, Dejonge H, Heda GD, Marino CR, Fanen P, Hinzpeter A, Lipecka J, Fritsch J, Gentzsch M, Edelman A, Amaral MD.

J Cyst Fibros. 2004 Aug;3 Suppl 2:73-7.

35.

Antibodies for CFTR studies.

Mendes F, Farinha CM, Roxo-Rosa M, Fanen P, Edelman A, Dormer R, McPherson M, Davidson H, Puchelle E, De Jonge H, Heda GD, Gentzsch M, Lukacs G, Penque D, Amaral MD.

J Cyst Fibros. 2004 Aug;3 Suppl 2:69-72. Review.

36.

Serum amyloid A protein: not a relevant marker for recognition of cardiac allograft rejection.

Vermes E, Kirsch M, Farrokhi T, Loisance D, Fanen P, Zimmermann R.

Transplantation. 2004 Sep 27;78(6):950-1. No abstract available.

PMID:
15385823
37.

TGF-beta 1 downregulates CFTR expression and function in nasal polyps of non-CF patients.

Prulière-Escabasse V, Fanen P, Dazy AC, Lechapt-Zalcman E, Rideau D, Edelman A, Escudier E, Coste A.

Am J Physiol Lung Cell Mol Physiol. 2005 Jan;288(1):L77-83. Epub 2004 Sep 10.

38.

Altered channel gating mechanism for CFTR inhibition by a high-affinity thiazolidinone blocker.

Taddei A, Folli C, Zegarra-Moran O, Fanen P, Verkman AS, Galietta LJ.

FEBS Lett. 2004 Jan 30;558(1-3):52-6.

39.

Correction of G551D-CFTR transport defect in epithelial monolayers by genistein but not by CPX or MPB-07.

Zegarra-Moran O, Romio L, Folli C, Caci E, Becq F, Vierfond JM, Mettey Y, Cabrini G, Fanen P, Galietta LJ.

Br J Pharmacol. 2002 Oct;137(4):504-12.

40.

Glutathione levels and BAX activation during apoptosis due to oxidative stress in cells expressing wild-type and mutant cystic fibrosis transmembrane conductance regulator.

Jungas T, Motta I, Duffieux F, Fanen P, Stoven V, Ojcius DM.

J Biol Chem. 2002 Aug 2;277(31):27912-8. Epub 2002 May 22.

41.

Distribution of ClC-2 chloride channel in rat and human epithelial tissues.

Lipecka J, Bali M, Thomas A, Fanen P, Edelman A, Fritsch J.

Am J Physiol Cell Physiol. 2002 Apr;282(4):C805-16.

42.
43.

Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19).

Costes B, Girodon E, Vidaud D, Flori E, Ardalan A, Conteville P, Fanen P, Niel F, Vidaud M, Goossens M.

Clin Chem. 2000 Sep;46(9):1417-20. No abstract available.

44.

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

Fanen P, Clain J, Labarthe R, Hulin P, Girodon E, Pagesy P, Goossens M, Edelman A.

FEBS Lett. 1999 Jun 11;452(3):371-4.

45.
46.

Properties of a Cl(-)-conductive pathway(s) in microsomes from rat kidney inner medulla. Involvement of cystic fibrosis transmembrane regulator protein.

Benharouga M, Lipecka J, Fanen P, Baudoin-Legros M, Banting G, Fritsch J, Edelman A.

Eur J Biochem. 1996 Aug 15;240(1):268-73.

47.

[Cystic fibrosis: the CFTR gene, its mutations, the genetic counseling].

Goossens M, Ghanem N, Girodon E, Costes B, Fanen P.

Rev Pneumol Clin. 1995;51(3):130-6. French.

PMID:
7569574
48.

Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P.

J Clin Invest. 1994 Aug;94(2):516-20.

49.

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M.

Genomics. 1994 May 15;21(2):434-6.

PMID:
7522211
50.

Exhaustive analysis of the P53 gene coding sequence by denaturing gradient gel electrophoresis: application to the detection of point mutations in acute leukemias.

Pignon JM, Vinatier I, Fanen P, Jonveaux P, Tournilhac O, Imbert M, Rochant H, Goossens M.

Hum Mutat. 1994;3(2):126-32.

PMID:
8199593

Supplemental Content

Support Center