Publications

2017

Odelin G, Faure E, Coulpier F, Di Bonito M, Bajolle F, Studer M, Avierinos J-F, Charnay P, Topilko P, Zaffran S. (2017). Krox20 defines a subpopulation of cardiac neural crest cells contributing to arterial valves and bicuspid aortic valve. Development. In press.

Rambeau P, Faure E, Theron A, Avierinos JF, Jopling C, Zaffran S, Faucherre A. (2017). Reduced aggrecan expression affects cardiac outflow tract development in zebrafish and is associated with bicuspid aortic valve disease in humans. Int J Cardiol. 249:340-343.

Boeva V, Louis-Brennetot C, Peltier A, Durand S, Pierre-Eugene C, Raynal V, Etchevers HC, Thomas S, Lermine A, Daudigeos-Dubus E, Geoerger B, Orth MF, Grunewald TGP, Diaz E, Ducos B, Surdez D, Carcaboso AM, Medvedeva I, Deller T, Combaret V, Lapouble E, Pierron G, Grossetete-Lalami S, Baulande S, Schleiermacher G, Barillot E, Rohrer H, Delattre O, Janoueix-Lerosey I. (2017). Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries. Nat Genet. 49(9):1408-1413.

Charlet J, Tomari A, Dallosso AR, Szemes M, Kaselova M, Curry TJ, Almutairi B, Etchevers HC, McConville C, Malik KT, Brown KW. (2017). Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma. Mol Carcinog. 56(4):1290-1301.

Etchevers, H.C. (2017). Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins. In press.

Creuzet, S.E., Etchevers, H.C. (2017). Embryologie de l'oeil humain. In Ophtalmologie pédiatrique. Rapport SFO 2017. Editors: D. Denis, E. Qui Buoc, A. Aziz Alessi, pp. 739-756. Elsevier-Masson, Paris, France.

Ovaert C, Busa T, Faure E, Missirian S, Philip N, Paoli F, Milh M, Mace L, Zaffran S. (2017). FOXC1 Haploinsufficiency due to 6p25 Deletion in a Patient with Rapidly Progressing Aortic Valve Disease. American Journal of Medical Genetics: Part A. 173(9):2489-2493.

Labbe P, Faure E, Lecointe S, Le Scouarnec S, Kyndt F, Marrec M, Le Tourneau T, Offmann B, Duplaa C, Zaffran S, Schott JJ, Merot J. (2017). The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/b-catenin transcription pathway. BBA-Mol Cell Res. 1864(7):1142-1152.

Zaffran S, Bajolle F. (2017). Genetics and developmental basis of the bicuspid aortic valve. Arch Mal Coeur Vaiss. 256:22-26.

Stefanovic S, Zaffran S. (2017). Mechanisms of retinoic acid signaling during cardiogenesis. Mech Dev. 143(1-2):9-19.

Roux M, Laforest B, Eudes N, Bertrand N, Stefanovic S, Zaffran S. (2017). Hoxa1 and Hoxb1 are required for pharyngeal arch artery development. Mech Dev. 143(1-2):1-8.

2016

Laforest B, Zaffran S. (2016). Genetics of conotruncal anomalies. In Surgery of conotruncal anomalies. Editors: F. Lacour-Gayet, T. Spray, E. Bove, V. Hraska, V Morrel, pp. 607-621. Springer International Publishing, Switzerland.

Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Beroud C, Collod-Beroud G. (2016). WES/WGS reporting of mutations from cardiovascular "actionable" genes in clinical practice: a key role for UMD knowledgebases in the era of big databases. Hum Mutat. 37(12):1308-1317.

Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Fabre A, Arnaud P, Barre L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Beroud C, Collod-Beroud G. (2016). Actionable Genes, Core Databases and LOCUS Specific Databases (LSDBs). Hum Mutat. 37(12):1299-1307.

Roux M, Zaffran S. (2016). Hox Genes in Cardiovascular Development and Diseases. J Dev Biol. 4(2):14.

Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. (2016). Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res. 26(4):474-85.

Theron A, Pinard A, Riberi A, Zaffran S. (2016). An uncommon cause of tricuspid regurgitation: three dimensional echocardiographic incremental value, surgical and genetic insights. European Journal of Cardio-Thoracic Surgery. 50(1):180-2.

Escot S, Blavet C, Faure E, Riberi A, Zaffran, S, Duband JL, Fournier-Thibault C. (2016). Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations. Development. 143(4):582-8.

Theron A, Odelin G, Faure E, Avierinos JF, Zaffran S. (2016). Krox20 heterozygous mice: a model of aortic regurgitation associated with decreased expression of fibrillar collagen genes. Archives of Cardiovascular Diseases. 109(3):188-98.

El Robrini N, Etchevers H, Ryckebusch L, Faure E, Eudes N, Niederreither K, Zaffran Sß, Bertrand Nß. (2016). Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages. Dev Dyn. 245(3):388-401.ßCo-Senior author

2015

Zaffran S, Niederreither K. (2015). Retinoic acid signaling and heart development. In The Retinoids: Biology, Biochemistry, and Disease. Editors: P Dollé, K Niederreither, pp.353-369. Wiley-Blackwell, New Jersey, USA.

Roux M, Laforest B, Capecchi M, Bertrand N, Zaffran S. (2015). Hoxb1 regulates proliferation and differentiation of second heart field progenitors in pharyngeal mesoderm and genetically interacts with Hoxa1 during cardiac outflow tract development. Dev Biol. 406(2):247-258.

Papoutsi T, Odelin G, Moore-Morris T, Puceat M, de la Pompa JL, Robert B, Zaffran S. (2015). Msx1CreERT2 knock-in allele: A useful tool to target embryonic and adult cardiac valves. Genesis. 53(5):337-345.

Price HN, O'Haver J, Marghoob A, Badger K, Etchevers H, Krengel S. (2015). Practical Application of the New Classification Scheme for Congenital Melanocytic Nevi. Pediatr Dermatol. 32(1):23-7.

2014

Odelin G*, Faure E*, Kober F, Maurel-Zaffran C, Theron A, Coulpier F, Guillet B, Bernard M, Avierinos JF, Charnay P, Topilko P, Zaffran S. (2014). Loss of Krox20 results in aortic valve regurgitation and impaired transcriptional activation of fibrillar collagen genes. Cardiovasc. Res. 104(3):443-55.

Rana MS, Theveniau-Ruissy M, De Bono C, Mesbah K, Francou A, Rammah M, Dominguez JN, Roux M, Laforest B, Anderson RH, Mohun RJ, Zaffran S, Christoffels VM, Kelly RG. (2014). Tbx1 Coordinates Addition of Posterior Second Heart Field Progenitor Cells to the Arterial and Venous Poles of the Heart. Circ Res. 115(9):790-9.

Laforest B, Bertrand N, Zaffran S. (2014). Genetic lineage tracing analysis of anterior Hox expressing cells. Methods Mol Biol. 1196:37-48.

Etchevers HC. (2014). Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi. J Invest Dermatol. 134(4):879-82.

Zaffran S, El Robrini N, Bertrand N. (2014). Retinoids and Cardiac Development. J Dev Biol. 2, 50-71.

Laforest B, Bertrand N, Zaffran S. (2014). Anterior Hox Genes in Cardiac Development and Great Artery Patterning. J Cardiovasc Dev Dis. 1, 3-13.

2013

Yajima I, Colombo S, Puig I, Champeval D, Kumasaka M, Belloir E, Bonaventure J, Mark M, Yamamoto H, Taketo MM, Choquet P, Etchevers HC, Beermann F, Delmas V, Monassier L, Larue L. (2013). A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus. PLoS One. 8(1):e53183.

2012

Yusuke W, Zaffran S, Kuroiwa A, Higuchi H, Ogura T, Harvey RP, Kelly RG, Buckingham M. (2012). Fgf10 regulation in the second heart field by Tbx1, Nkx2-5 and Islet1 reveals a genetic switch for down-regulation in the myocardium.Proc Natl Acad Sci U S A. 109(45):18273-80.

Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG. (2012). Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). Birth Defects Res A Clin Mol Teratol. 94(9):683-92.

Van Piet P, Wu SM, Zaffran S, Puceat M. (2012). Early cardiac development: a view from stem cells to embryos. Cardiovasc Res. 96(3):352-62.

Zaffran S, Kelly RG. (2012). New developments in the second heart field. Differentiation. 84(1):17-24.

Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas WA, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. (2012) OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 49(6):373-379.

Bun SS, Kober F, Jacquier A, Espinosa L, Kalifa J, Bonzi MF, Kopp F, Lalevee N, Zaffran S, Deharo JC, Cozzone P, Bernard M. (2012). Value of In Vivo T2 Measurement for Myocardial Fibrosis Assessment in Diabetic Mice at 11.75 T. Investigation Radiology. 47(5):319-323.

Reyes-Mugica M, M Beckwith, HC Etchevers. (2012) Etiology of congenital melanocytic nevi and related conditions. In: Nevogenesis (Practical Clinical Medicine series) eds. A. Marghoob, J. Grinchik, A. Scope and S. Dusza. Springer, New York.

van der Werf C, Wabbersen T, Hsiao NH, Parades J, Etchevers H, Kroise P, Tibboel D, Babarit C, Schreiber R, Hoffenberg E, Vekemans M, Zeder S, Ceccherini I, Lyonnet S, Ribeiro A, Seruca R, te Meerman G, Ijzendoorn S, Shepherd I, Verheij J, Hofstra RMW. (2012) Mutations in CLMP cause Congenital Short Bowel Syndrome, pointing to the major role of CLMP in intestinal development. Gastroenterology. 142(3):453-462.e3.

Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, Vekemans M, Zaffran S, Lyonnet S, Etchevers HC. (2012). ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. PLoS ONE. 7(1):e30677.

2011

Diman NY, Remacle S, Bertrand N, Picard J, S Zaffran Sß, Rezsohazy Rß. (2011). A retinoic acid responsive hoxa3 transgene expressed in embryonic pharyngeal endoderm, cardiac neural crest and a subdomain of the second heart field. PLoS ONE. 6(11):e27624.ßCo-Senior authors

Bertrand N, Roux M, Ryckebusch L, Niederreither K, Dolle P, Moon A, Capecchi M, Zaffran S. (2011). Hox genes define distinct progenitor sub-domains within the second heart field. Dev Biol. 353(2):266-74.

Krengel S, Breuninger H, Beckwith M, Etchevers HC. (2011) Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, Tübingen. Pigment Cell & Melanoma Res. 24(4):E1-6.

Mace M, Galiacy S, Erraud A, Mejia JE, Etchevers H, Allouche M, Desjardins L, Calvas P, Malecaze F. (2011) Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas. Invest Ophthalmol Vis Sci. 52(9):6181-91.

de Pontual L, Kettaneh D, Gordon CT, Oufadem M, Boddaert N, Lees M, Balu L, Lachassinne E, Petros A, Mollet J, Wilson LC, Munnich A, Brugiere L, Delattre O, Vekemans M, Etchevers H, Lyonnet S, Janoueix-Lerosey I, Amiel J. (2011) Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat. 32,272-276.

Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, Vekemans M, Lyonnet S, Etchevers H, Amiel J, de Pontual J. (2011) Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. Eur J Hum Genet. 19,602-606.

Etchevers H. (2011). Primary culture of chick, mouse or human neural crest cells. Nat Protoc. 6(10):1568-77.

2010

Medioni C, Bertrand N, Mesbah K, Hudry B, Dupays L, Wolstein O, Washkowitz AJ, Papaioannou V, Mohun T, Harvey RP, Zaffran S. (2010). Expression of Slit and Robo genes in the developing mouse heart. Dev Dyn. 239(12):3303-11.

Lin SC, Dolle P, Ryckebusch L, Noseda M, Zaffran S, Schneider MD, Niederreither K. (2010). Endogenous retinoic acid regulates cardiac progenitor differentiation. Proc Natl Acad Sci U S A. 107(20):9234-9

Thomas S, F Encha-Razavi, L Devisme, H Etchevers, B Bessieres-Grattagliano, G Goudefroye, N Elkhartoufi, E Pateau, A Ichkou, et al. (2010) High-throughput Sequencing of a 4.1 Mb Linkage Interval Reveals FLVCR2 Deletions and Mutations in Lethal Cerebral Vasculopathy. Hum Mutat. 31(10),1134-41.

Ryckebusch L, Bertrand N, Mesbah K, Bajolle F, Niederreither K, Kelly RG, Zaffran S. (2010). Decreased levels of embryonic Retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome.Circ Res. 106(4):686-94.

2009

Bonnet D, Zaffran S, Kelly R, Bajolle F. (2009). Embryological and genetic mechanisms of cardiac great arteries malformations. J Soc Biol. 203(2):161-5.

Bajolle F, Zaffran S, Losay J, Buckingham M, Bonnet D. (2009). Conotruncal defects with associated anomalous pulmonary venous connections. Archives of Cardiovascular Diseases 102, 105-110.

Ryckebusch L, Zaffran S. (2009) Embryonic dysfunction and congenital heart diseases. Arch Mal Coeur Vaiss, 174, 28-32.

Bajolle F, Zaffran S, Bonnet D. (2009). Genetic and mechanism of congenital heart diseases. Archives of Cardiovascular Diseases, 102, 59-63.

2008

Galli D, Dominguez JN, Zaffran S, Munk A, Brown N, Buckingham M. (2008). Atrial myocardium derives from the posterior region of the second heart field, which acquires left/right identity as Pitx2c is expressed. Development. 135, 1157-1167.

Ryckebusch L, Wang Z, Bertrand N, Lin SC, Schwartz R, Zaffran Sß, Niederreither Kß. (2008). Retinoic acid deficiency alters second heart field. Proc Natl Acad Sci U S A. 105, 2913-2918. ßCo-Senior authors

Bajolle F ,Zaffran S. (2008). Haemodynamic induces aortic arch asymmetry. Medecine Sciences, 24, 354-356.

Bajolle F, Zaffran S, Meilhac S, Chang T, Kelly RG, Buckingham ME. (2008). Myocardium at the base of the aorta and pulmonary trunk is prefigured in the early heart and pharyngeal mesodermal progenitors cell populations. Dev Biol. 312, 25-34.

2007

Lo P, Zaffran S, Senatore S, Frasch M. (2007). The Drosophila Hand gene is required for remodeling of the developing and adult heart and midgut during metamorphosis. Dev Biol, 311, 287-296.

Bajolle F, Zaffran S, Bonnet D. (2007). Molecular bases of congenital heart diseases. Arch Mal Coeur Vaiss, 100, 484-489.

Bajolle F, Bertrand N, Zaffran S. (2007). Developpement du systeme cardiovasculaire. Traite de cardiologie et des maladies cardiovasculaires. Société Française de cardiologie, Editors: JY. Artigou, JJ. Monsuez, pp.12-16. Masson, Paris, France.

Prall OW, Menon M, Solloway M, Watanabe Y, Zaffran S, Bajolle F, et al. (2007). An Nkx2.5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation. Cell, 128, 947-959.

2006

Zaffran S, Reim I, Qian L, Lo PC, Bodmer R, Frasch M. (2006). Cardioblast-intrinsic Tinman activity controls proper diversification and differentiation of myocardial cells in Drosophila. Development. 133, 4073-4083.

Bonnet D, Bajolle F, Zaffran S. (2006). Mecanismes embryologiques et genetique des cardiopathies. Med Feot Ech Gyn, 68, 17-19.

Marguerie-Petiot A*, Bajolle F*, Zaffran S, Brown N, Dickson C, Buckingham ME, Kelly RG. (2006). Congenital heart diseases in Fgfr2-IIIb and Fgf10 mutant mouse embryos. Cardiovasc Res. 71, 50-60.

Bajolle F*, Zaffran S*, Kelly RG, Hadchouel J, Bonnet D, Brown N, Buckingham ME. (2006). Rotation of the myocardium wall of the outflow tract is associated with normal positioning of the great arteries. Circ Res. 98, 421-428.

2005

Buckingham ME, Meilhac S, Zaffran S. (2005). Building the vertebrate heart from two sources of precursors. Nat Rev Genet, 6, 826-835.

Kelly RG, Zaffran S, Buckingham M, Brown N. (2005). Fgf10 and the embryological origin of outflow tract myocardium. In Cardiovascular Development and Congenital Malformations. Editors: M. Artman, D.W. Benson, D. Strivastava, M. Nakazawa, pp.81-83. Blackwell Futura, Oxford, UK.

2004

Zaffran Sß, Kelly RG, Meilhac S, Buckingham ME, Brown N. (2004). Right ventricular myocardium derives from the anterior heart field. Circ Res, 95, 261-268. ßCorresponding author

Lee HH, Zaffran S, Frasch M. (2004). The development of the larva visceral musculature of Drosophila. In Muscle Development in Drosophila. H Sink, ed. (Georgetown, TX, USA, Landes Bioscience Collection).

2003

Kelly RG, Lemonnier M, Zaffran S, Munk A, Buckingham ME. (2003). Cell history determines the maintenance of transcriptional differences between cardiomyocytes in the developing mouse heart. J Cell Sci. 116, 5005-5013.

Zaffran Sß, Kelly RG, Munk A, Brown N, Buckingham ME. (2003). The mouse as a model for heart morphogenesis in mammals: the origin of myocytes and studies with cardiac explants. J Soc Biol. 197, 187-194. ßCorresponding author

*Equal contribution.

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