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Krox20 Regulates Endothelial Nitric Oxide Signaling in Aortic Valve Development and Disease.

Odelin G, Faure E, Maurel-Zaffran C, Zaffran S.

J Cardiovasc Dev Dis. 2019 Nov 2;6(4). pii: E39. doi: 10.3390/jcdd6040039.


A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.

Jaouadi H, Chehida AB, Kraoua L, Etchevers HC, Argiro L, Kasdallah N, Blibech S, Delague V, Lévy N, Tebib N, Mrad R, Abdelhak S, Benkhalifa R, Zaffran S.

Genet Res (Camb). 2019 Apr 29;101:e6. doi: 10.1017/S0016672319000041.


Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis.

Neri T, Hiriart E, van Vliet PP, Faure E, Norris RA, Farhat B, Jagla B, Lefrancois J, Sugi Y, Moore-Morris T, Zaffran S, Faustino RS, Zambon AC, Desvignes JP, Salgado D, Levine RA, de la Pompa JL, Terzic A, Evans SM, Markwald R, Pucéat M.

Nat Commun. 2019 Apr 26;10(1):1929. doi: 10.1038/s41467-019-09459-5.


Transcriptome analysis of mouse and human sinoatrial node cells reveals a conserved genetic program.

van Eif VWW, Stefanovic S, van Duijvenboden K, Bakker M, Wakker V, de Gier-de Vries C, Zaffran S, Verkerk AO, Boukens BJ, Christoffels VM.

Development. 2019 Apr 25;146(8). pii: dev173161. doi: 10.1242/dev.173161.


Hox and Tale transcription factors in heart development and disease.

Lescroart F, Zaffran S.

Int J Dev Biol. 2018;62(11-12):837-846. doi: 10.1387/ijdb.180192sz. Review.


Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations.

Zaffran S, Odelin G, Stefanovic S, Lescroart F, Etchevers HC.

Genesis. 2018 Jun;56(6-7):e23221. doi: 10.1002/dvg.23221.


Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Jaouadi H, Kraoua L, Chaker L, Atkinson A, Delague V, Levy N, Benkhalifa R, Mrad R, Abdelhak S, Zaffran S.

J Hum Genet. 2018 Oct;63(10):1077-1082. doi: 10.1038/s10038-018-0492-1. Epub 2018 Jul 25.


T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field.

De Bono C, Thellier C, Bertrand N, Sturny R, Jullian E, Cortes C, Stefanovic S, Zaffran S, Théveniau-Ruissy M, Kelly RG.

Hum Mol Genet. 2018 Nov 1;27(21):3747-3760. doi: 10.1093/hmg/ddy266.


Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect.

Pinard A, Eudes N, Mitchell J, Bajolle F, Grelet M, Okoronkwo J, Bonnet D, Collod-Béroud G, Zaffran S.

Mol Biol Rep. 2018 Oct;45(5):1507-1513. doi: 10.1007/s11033-018-4212-x. Epub 2018 Jun 19.


Bmp2 and Notch cooperate to pattern the embryonic endocardium.

Papoutsi T, Luna-Zurita L, Prados B, Zaffran S, de la Pompa JL.

Development. 2018 Jul 2;145(13). pii: dev163378. doi: 10.1242/dev.163378.


Myocardial Bmp2 gain causes ectopic EMT and promotes cardiomyocyte proliferation and immaturity.

Prados B, Gómez-Apiñániz P, Papoutsi T, Luxán G, Zaffran S, Pérez-Pomares JM, de la Pompa JL.

Cell Death Dis. 2018 Mar 14;9(3):399. doi: 10.1038/s41419-018-0442-z.


Asb2α-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development.

Métais A, Lamsoul I, Melet A, Uttenweiler-Joseph S, Poincloux R, Stefanovic S, Valière A, Gonzalez de Peredo A, Stella A, Burlet-Schiltz O, Zaffran S, Lutz PG, Moog-Lutz C.

Circ Res. 2018 Mar 16;122(6):e34-e48. doi: 10.1161/CIRCRESAHA.117.312015. Epub 2018 Jan 26.


Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.

Etchevers HC, Rose C, Kahle B, Vorbringer H, Fina F, Heux P, Berger I, Schwarz B, Zaffran S, Macagno N, Krengel S.

Pigment Cell Melanoma Res. 2018 May;31(3):437-441. doi: 10.1111/pcmr.12685. Epub 2018 Jan 29.


Krox20 defines a subpopulation of cardiac neural crest cells contributing to arterial valves and bicuspid aortic valve.

Odelin G, Faure E, Coulpier F, Di Bonito M, Bajolle F, Studer M, Avierinos JF, Charnay P, Topilko P, Zaffran S.

Development. 2018 Jan 3;145(1). pii: dev151944. doi: 10.1242/dev.151944.


Reduced aggrecan expression affects cardiac outflow tract development in zebrafish and is associated with bicuspid aortic valve disease in humans.

Rambeau P, Faure E, Théron A, Avierinos JF, Jopling C, Zaffran S, Faucherre A.

Int J Cardiol. 2017 Dec 15;249:340-343. doi: 10.1016/j.ijcard.2017.09.174. Epub 2017 Sep 24.


FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

Ovaert C, Busa T, Faure E, Missirian C, Philip N, Paoli F, Milh M, Macé L, Zaffran S.

Am J Med Genet A. 2017 Sep;173(9):2489-2493. doi: 10.1002/ajmg.a.38331. Epub 2017 Jun 28.


The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway.

Labbé P, Faure E, Lecointe S, Le Scouarnec S, Kyndt F, Marrec M, Le Tourneau T, Offmann B, Duplaà C, Zaffran S, Schott JJ, Merot J.

Biochim Biophys Acta Mol Cell Res. 2017 Jul;1864(7):1142-1152. doi: 10.1016/j.bbamcr.2017.03.008. Epub 2017 Mar 18.


Mechanisms of retinoic acid signaling during cardiogenesis.

Stefanovic S, Zaffran S.

Mech Dev. 2017 Feb;143:9-19. doi: 10.1016/j.mod.2016.12.002. Epub 2016 Dec 19. Review.


Hoxa1 and Hoxb1 are required for pharyngeal arch artery development.

Roux M, Laforest B, Eudes N, Bertrand N, Stefanovic S, Zaffran S.

Mech Dev. 2017 Feb;143:1-8. doi: 10.1016/j.mod.2016.11.006. Epub 2016 Dec 10.


WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.

Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G.

Hum Mutat. 2016 Dec;37(12):1308-1317. doi: 10.1002/humu.23119. Epub 2016 Oct 10.


Actionable Genes, Core Databases, and Locus-Specific Databases.

Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G.

Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26.


Hox Genes in Cardiovascular Development and Diseases.

Roux M, Zaffran S.

J Dev Biol. 2016 Mar 24;4(2). pii: E14. doi: 10.3390/jdb4020014. Review.


Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations.

Escot S, Blavet C, Faure E, Zaffran S, Duband JL, Fournier-Thibault C.

Development. 2016 Feb 15;143(4):582-8. doi: 10.1242/dev.126573. Epub 2016 Jan 11.


Krox20 heterozygous mice: A model of aortic regurgitation associated with decreased expression of fibrillar collagen genes.

Théron A, Odelin G, Faure E, Avierinos JF, Zaffran S.

Arch Cardiovasc Dis. 2016 Mar;109(3):188-98. doi: 10.1016/j.acvd.2015.10.002. Epub 2015 Dec 23.


An uncommon cause of tricuspid regurgitation: three-dimensional echocardiographic incremental value, surgical and genetic insights.

Theron A, Pinard A, Riberi A, Zaffran S.

Eur J Cardiothorac Surg. 2016 Jul;50(1):180-2. doi: 10.1093/ejcts/ezv423. Epub 2015 Dec 15.


Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages.

El Robrini N, Etchevers HC, Ryckebüsch L, Faure E, Eudes N, Niederreither K, Zaffran S, Bertrand N.

Dev Dyn. 2016 Mar;245(3):388-401. doi: 10.1002/dvdy.24357. Epub 2015 Oct 28.


Hoxb1 regulates proliferation and differentiation of second heart field progenitors in pharyngeal mesoderm and genetically interacts with Hoxa1 during cardiac outflow tract development.

Roux M, Laforest B, Capecchi M, Bertrand N, Zaffran S.

Dev Biol. 2015 Oct 15;406(2):247-58. doi: 10.1016/j.ydbio.2015.08.015. Epub 2015 Aug 15.


Msx1CreERT2 knock-In allele: A useful tool to target embryonic and adult cardiac valves.

Papoutsi T, Odelin G, Moore-Morris T, Pucéat M, de la Pompa JL, Robert B, Zaffran S.

Genesis. 2015 May;53(5):337-45. doi: 10.1002/dvg.22856.


Loss of Krox20 results in aortic valve regurgitation and impaired transcriptional activation of fibrillar collagen genes.

Odelin G, Faure E, Kober F, Maurel-Zaffran C, Théron A, Coulpier F, Guillet B, Bernard M, Avierinos JF, Charnay P, Topilko P, Zaffran S.

Cardiovasc Res. 2014 Dec 1;104(3):443-55. doi: 10.1093/cvr/cvu233. Epub 2014 Oct 24.


Tbx1 coordinates addition of posterior second heart field progenitor cells to the arterial and venous poles of the heart.

Rana MS, Théveniau-Ruissy M, De Bono C, Mesbah K, Francou A, Rammah M, Domínguez JN, Roux M, Laforest B, Anderson RH, Mohun T, Zaffran S, Christoffels VM, Kelly RG.

Circ Res. 2014 Oct 10;115(9):790-9. doi: 10.1161/CIRCRESAHA.115.305020. Epub 2014 Sep 4.


Genetic lineage tracing analysis of anterior Hox expressing cells.

Laforest B, Bertrand N, Zaffran S.

Methods Mol Biol. 2014;1196:37-48. doi: 10.1007/978-1-4939-1242-1_3.


Fibroblast growth factor 10 gene regulation in the second heart field by Tbx1, Nkx2-5, and Islet1 reveals a genetic switch for down-regulation in the myocardium.

Watanabe Y, Zaffran S, Kuroiwa A, Higuchi H, Ogura T, Harvey RP, Kelly RG, Buckingham M.

Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):18273-80. doi: 10.1073/pnas.1215360109. Epub 2012 Oct 23.


Early cardiac development: a view from stem cells to embryos.

Van Vliet P, Wu SM, Zaffran S, Pucéat M.

Cardiovasc Res. 2012 Dec 1;96(3):352-62. doi: 10.1093/cvr/cvs270. Epub 2012 Aug 14. Review.


New developments in the second heart field.

Zaffran S, Kelly RG.

Differentiation. 2012 Jul;84(1):17-24. doi: 10.1016/j.diff.2012.03.003. Epub 2012 Apr 21. Review.


Value of in vivo T2 measurement for myocardial fibrosis assessment in diabetic mice at 11.75 T.

Bun SS, Kober F, Jacquier A, Espinosa L, Kalifa J, Bonzi MF, Kopp F, Lalevee N, Zaffran S, Deharo JC, Cozzone PJ, Bernard M.

Invest Radiol. 2012 May;47(5):319-23. doi: 10.1097/RLI.0b013e318243e062.


ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.

Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, Vekemans M, Zaffran S, Lyonnet S, Etchevers HC.

PLoS One. 2012;7(1):e30677. doi: 10.1371/journal.pone.0030677. Epub 2012 Jan 27.


A retinoic acid responsive Hoxa3 transgene expressed in embryonic pharyngeal endoderm, cardiac neural crest and a subdomain of the second heart field.

Diman NY, Remacle S, Bertrand N, Picard JJ, Zaffran S, Rezsohazy R.

PLoS One. 2011;6(11):e27624. doi: 10.1371/journal.pone.0027624. Epub 2011 Nov 16.


Hox genes define distinct progenitor sub-domains within the second heart field.

Bertrand N, Roux M, Ryckebüsch L, Niederreither K, Dollé P, Moon A, Capecchi M, Zaffran S.

Dev Biol. 2011 May 15;353(2):266-74. doi: 10.1016/j.ydbio.2011.02.029. Epub 2011 Mar 6.


Expression of Slit and Robo genes in the developing mouse heart.

Medioni C, Bertrand N, Mesbah K, Hudry B, Dupays L, Wolstein O, Washkowitz AJ, Papaioannou VE, Mohun TJ, Harvey RP, Zaffran S.

Dev Dyn. 2010 Dec;239(12):3303-11. doi: 10.1002/dvdy.22449.


Endogenous retinoic acid regulates cardiac progenitor differentiation.

Lin SC, Dollé P, Ryckebüsch L, Noseda M, Zaffran S, Schneider MD, Niederreither K.

Proc Natl Acad Sci U S A. 2010 May 18;107(20):9234-9. doi: 10.1073/pnas.0910430107. Epub 2010 May 3.


Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome.

Ryckebüsch L, Bertrand N, Mesbah K, Bajolle F, Niederreither K, Kelly RG, Zaffran S.

Circ Res. 2010 Mar 5;106(4):686-94. doi: 10.1161/CIRCRESAHA.109.205732. Epub 2010 Jan 28.


[Embryological and genetic mechanisms of cardiac great arteries malformations].

Bonnet D, Zaffran S, Kelly R, Bajolle F.

J Soc Biol. 2009;203(2):161-5. doi: 10.1051/jbio/2009019. Epub 2009 Jun 16. Review. French.


Conotruncal defects associated with anomalous pulmonary venous connections.

Bajolle F, Zaffran S, Losay J, Ou P, Buckingham M, Bonnet D.

Arch Cardiovasc Dis. 2009 Feb;102(2):105-10. doi: 10.1016/j.acvd.2008.04.010. Epub 2009 Feb 25.


Genetics and embryological mechanisms of congenital heart diseases.

Bajolle F, Zaffran S, Bonnet D.

Arch Cardiovasc Dis. 2009 Jan;102(1):59-63. doi: 10.1016/j.acvd.2008.06.020. Epub 2008 Dec 4. Review.


[Haemodynamic induces aortic arch asymmetry].

Bajolle F, Zaffran S.

Med Sci (Paris). 2008 Apr;24(4):354-6. doi: 10.1051/medsci/2008244354. French. No abstract available.


Retinoic acid deficiency alters second heart field formation.

Ryckebusch L, Wang Z, Bertrand N, Lin SC, Chi X, Schwartz R, Zaffran S, Niederreither K.

Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2913-8. doi: 10.1073/pnas.0712344105. Epub 2008 Feb 19.


Atrial myocardium derives from the posterior region of the second heart field, which acquires left-right identity as Pitx2c is expressed.

Galli D, Domínguez JN, Zaffran S, Munk A, Brown NA, Buckingham ME.

Development. 2008 Mar;135(6):1157-67. doi: 10.1242/dev.014563. Epub 2008 Feb 13.


Myocardium at the base of the aorta and pulmonary trunk is prefigured in the outflow tract of the heart and in subdomains of the second heart field.

Bajolle F, Zaffran S, Meilhac SM, Dandonneau M, Chang T, Kelly RG, Buckingham ME.

Dev Biol. 2008 Jan 1;313(1):25-34. Epub 2007 Sep 22.


The Drosophila Hand gene is required for remodeling of the developing adult heart and midgut during metamorphosis.

Lo PC, Zaffran S, Sénatore S, Frasch M.

Dev Biol. 2007 Nov 15;311(2):287-96. Epub 2007 Aug 17.


[Molecular aspects of congenital heart diseases].

Bajolle F, Zaffran S, Bonnet D.

Arch Mal Coeur Vaiss. 2007 May;100(5):484-9. Review. French.


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