Alain Kitzis

Alain Kitzis

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Alain Kitzis

Alain Kitzis

Publications by authors named "Alain Kitzis"

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39Publications

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A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.

Eur J Hum Genet 2019 Nov 9;27(11):1683-1691. Epub 2019 Jul 9.

Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1038/s41431-019-0465-7DOI Listing
November 2019

Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein.

Cell Mol Biol (Noisy-le-grand) 2017 Nov 30;63(11):106-110. Epub 2017 Nov 30.

EA3808, Université de Poitiers, Pôle Biologie Santé, France.

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http://dx.doi.org/10.14715/cmb/2017.63.11.18DOI Listing
November 2017

In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.

C R Biol 2017 Aug 4;340(8):367-371. Epub 2017 Aug 4.

EA3808, Université de Poitiers, UFR SFA, Pôle Biologie Santé, bâtiment B36/B37, 1, rue Georges-Bonnet, TSA51106, 86073 Poitiers cedex 9, France. Electronic address:

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http://dx.doi.org/10.1016/j.crvi.2017.06.001DOI Listing
August 2017

Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.

Eur J Med Genet 2016 Sep 21;59(9):483-7. Epub 2016 Jul 21.

Service de Génétique, Centre de Référence Anomalies du Développement Ouest, CHU de Poitiers, France; EA 3808, Université de Poitiers, France.

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http://dx.doi.org/10.1016/j.ejmg.2016.07.001DOI Listing
September 2016

Effects of BDNF polymorphism and physical activity on episodic memory in the elderly: a cross sectional study.

Eur Rev Aging Phys Act 2015 29;12:15. Epub 2015 Dec 29.

Université de Poitiers, Centre de Recherches sur la Cognition et l'Apprentissage, CNRS UMR 7295, Poitiers, France ; Université de Poitiers, Maison des Sciences de l'Homme et de la Société, CNRS USR 3565, Poitiers, France.

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http://dx.doi.org/10.1186/s11556-015-0159-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748321PMC
February 2016

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

Biochem Cell Biol 2015 Feb 17;93(1):28-37. Epub 2014 Sep 17.

a Génétique de Maladies Rares, Pôle Biologie Santé, TSA51106, Université de Poitiers, 86073 Poitiers cedex 9, France.

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http://dx.doi.org/10.1139/bcb-2014-0042DOI Listing
February 2015

A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

Neuro Oncol 2014 Jan 18;16(2):250-5. Epub 2013 Dec 18.

Corresponding author: Ilyess Zemmoura, MD, Service de Neurochirurgie, CHRU Bretonneau, 2 boulevard Tonnellé, 37004, Tours Cedex, France.

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http://dx.doi.org/10.1093/neuonc/not165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895380PMC
January 2014

Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.

Am J Med Genet A 2013 Oct 15;161A(10):2504-11. Epub 2013 Aug 15.

Service de Génétique, Centre Hospitalier Universitaire, Poitiers, France; Equipe de Génétique de Maladies Rares, Université de Poitiers, France.

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http://dx.doi.org/10.1002/ajmg.a.36122DOI Listing
October 2013

Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.

J Cyst Fibros 2013 Jul 21;12(4):407-10. Epub 2012 Dec 21.

Institut de Physiologie et Biologie Cellulaires, CNRS FRE 3511, Université de Poitiers, 86022 Poitiers, France.

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http://dx.doi.org/10.1016/j.jcf.2012.11.006DOI Listing
July 2013

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

Hum Mutat 2012 Nov 2;33(11):1557-65. Epub 2012 Jul 2.

Institut de Physiologie et Biologie Cellulaires, Centre National de la Recherche Scientifique Formation de Recherche en Evolution FRE 3511, Université de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1002/humu.22129DOI Listing
November 2012

Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.

J Mol Diagn 2009 Sep;11(5):488-93

Institut de Physiologie et Biologie Cellulaires, Centre National de la Recherche Scientifique Unité Mixte de Recherche 6187, Université de Poitiers, Poitiers, France.

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http://dx.doi.org/10.2353/jmoldx.2009.090005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729848PMC
September 2009

P-glycoprotein-mediated transport of moxifloxacin in a Calu-3 lung epithelial cell model.

Antimicrob Agents Chemother 2009 Apr 2;53(4):1457-62. Epub 2009 Feb 2.

INSERM, ERI-23, Pôle Biologie Santé, Poitiers, France.

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http://dx.doi.org/10.1128/AAC.01253-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2663113PMC
April 2009

Residues in the alternative reading frame tumor suppressor that influence its stability and p53-independent activities.

Exp Cell Res 2009 Apr 27;315(7):1326-35. Epub 2009 Jan 27.

Pole Biologie Sante, UMR 6187 CNRS, Pathologies Moléculaire de l'Adressage et de la Signalisation, Université de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1016/j.yexcr.2009.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665200PMC
April 2009

Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells.

Exp Cell Res 2008 Jul 4;314(11-12):2199-211. Epub 2008 May 4.

Institut de Physiologie et de Biologie Cellulaires, CNRS UMR6187, Université de Poitiers, France; CHU de Poitiers, BP577, 86021 Poitiers cedex, France.

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http://linkinghub.elsevier.com/retrieve/pii/S001448270800174
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http://dx.doi.org/10.1016/j.yexcr.2008.04.012DOI Listing
July 2008

Proteasome-dependent pharmacological rescue of cystic fibrosis transmembrane conductance regulator revealed by mutation of glycine 622.

J Pharmacol Exp Ther 2008 Apr 29;325(1):89-99. Epub 2008 Jan 29.

Institut de Physiologie et Biologie Cellulaires, Université de Poitiers, Centre National de la Recherche Scientifique, 86022 Poitiers, France.

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http://jpet.aspetjournals.org/cgi/doi/10.1124/jpet.107.13450
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http://dx.doi.org/10.1124/jpet.107.134502DOI Listing
April 2008

Regulation of capacitative calcium entries by alpha1-syntrophin: association of TRPC1 with dystrophin complex and the PDZ domain of alpha1-syntrophin.

FASEB J 2007 Feb 3;21(2):608-17. Epub 2007 Jan 3.

Institut de Physiologie et Biologie Cellulaires, CNRS, UMR-6187, University of Poitiers, 86022 Poitiers, France.

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http://dx.doi.org/10.1096/fj.06-6683comDOI Listing
February 2007

The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein.

Biochem Pharmacol 2004 Jun;67(12):2187-96

Institut de Physiologie et Biologie Cellulaires CNRS UMR 6187, Université de Poitiers, 40 Avenue du Recteur Pineau, 86022 Poitiers, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000629520400127
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http://dx.doi.org/10.1016/j.bcp.2004.02.022DOI Listing
June 2004

Regulation of the cystic fibrosis transmembrane conductance regulator channel by beta-adrenergic agonists and vasoactive intestinal peptide in rat smooth muscle cells and its role in vasorelaxation.

J Biol Chem 2004 May 11;279(20):21160-8. Epub 2004 Mar 11.

Laboratoire des Biomembranes et Signalisation Cellulaire CNRS Unité Mixte de Recherche 6558, Université de Poitiers, 86022 Poitiers, France.

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http://dx.doi.org/10.1074/jbc.M312199200DOI Listing
May 2004

Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activity.

J Cell Sci 2004 Apr 23;117(Pt 10):1923-35. Epub 2004 Mar 23.

Laboratoire de Génétique Cellulaire et Moléculaire, UPRES EA 2622, CHU de Poitiers, BP 577, 86021 Poitiers CEDEX, France.

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http://dx.doi.org/10.1242/jcs.01070DOI Listing
April 2004

The ink4a/arf locus evolution in primates: characterization of three ARF sequences.

DNA Cell Biol 2004 Mar;23(3):167-73

Laboratoire de Génétique Cellulaire et Moléculaire, UPRES EA2622, Université de Poitiers and CHU de Poitiers, France.

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http://dx.doi.org/10.1089/104454904322964760DOI Listing
March 2004

Differential interaction and activation of Rho family GTPases by p210bcr-abl and p190bcr-abl.

Oncogene 2003 Sep;22(41):6445-54

Laboratoire de Génétique Cellulaire et Moléculaire, UPRES EA2622, CHU de Poitiers, BP 577, 86021 Poitiers Cedex, France.

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http://dx.doi.org/10.1038/sj.onc.1206626DOI Listing
September 2003

A Novel voltage-dependent chloride current activated by extracellular acidic pH in cultured rat Sertoli cells.

J Biol Chem 2003 May 11;278(21):19230-6. Epub 2003 Mar 11.

Laboratoire des Biomembranes et Signalisation Cellulaire CNRS UMR 6558, Université de Poitiers, 40 Avenue du Recteur Pineau, Poitiers, France.

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http://dx.doi.org/10.1074/jbc.M301096200DOI Listing
May 2003