Publications 2015-2021

Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy. Guénantin AC, Jebeniani I, Leschik J, Watrin E, Bonne G, Vignier N, Pucéat M. J Clin Invest. 2021 Jan

MITF reprograms the extracellular matrix and focal adhesion in melanoma. Dilshat R, Fock V, Kenny C, Gerritsen I, Lasseur R, Travnickova J, Eichhoff O, Cerny P, Möller K, Sigurbjörnsdóttir S, Kirty K, Einarsdottir B, Cheng P, Levesque M, Cornell R, Patton E, Larue L, de Tayrac M, Magnúsdóttir E, Helga Ögmundsdóttir M, Steingrimsson E. Elife. 2021 Jan.

Local retinoic acid directs emergence of the extraocular muscle functional unit. Comai G, Tesarova M, Dupé V, Rhinn M, Vallecillo Garcia P, da Silva F, Feret B, Exelby K, Dollé P, Carlsson L, Pryce B, Spitz F, Stricker S, Zikmund T, Kaiser J, Briscoe J, Schedl A, Ghyselinck N, Schweitzer and Tajbakhsh S. Plos Biology. Nov 2020.

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein. Kim A, Le Douce J, Diab F, Dubourg C, Odent S, Dupé V, David V, Diambra L, Watrin E, de Tayrac M. Brain. 2020 Jul.

Disrupted brain development in association with reduced sonic hedgehog signalling underlies the pathogenesis of NOTCH-deficiency. Hamdi-Rozé H, Ware M, Guyodo H, Rizzo A, Ratié L, Rupin M, Carré W, Kim A, Odent S, Dubourg C, David V, de Tayrac M, Dupé V. J Clin Endocrinol Metab. 2020 Sep.

MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Parenti I, Diab F, Ruiz Gil S, Mulugeta E, Casa V, Berutti R, Brouwer RW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos FJ, Schwarzmayr T, Gines MM, van Staveren T, van Ijcken W, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. Cell Reports. 2020 May

Depicting the genetic architecture of pediatric cancers through an integrative gene network approach. Savary C, Kim A, Lespagnol A, Gandemer V,Pellier I, Andrieu C, Pagès G, Galibert MD, Blum Y et M de Tayrac. Scientific reports. 2020 Jan.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders. Beaumont M, Akloul L, Carré W, Quélin C, Journel H, Pasquier L, Fradin M, Odent S, Hamdi-Rozé H, Watrin E, Dupé V, Dubourg C and David V. Human Genetics. 2019 Jan.

Integrated Clinical and Omics Approach to Rare Diseases : Novel Genes and Oligogenic Inheritance in Holoprosencephaly. Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Le Douce J, Frex Consortium, GoNL Consortium, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute 0, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Brain. 2019 Jan.

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity. Dykes IM, Szumska D, Kuncheria L, Puliyadi R, Chen CM, Papanayotou C, Lockstone H, Dubourg C, David V, Schneider JE, Keane TM, Adams DJ, Brown SDM, Mercier S, Odent S, Collignon J, Bhattacharya S. Sci Rep. 2018 Jul.

A De Novo Variant in ADGRL2 Suggests a Novel Mechanism Underlying the Previously Undescribed Association of Extreme Microcephaly with Severe Reduced Sulcation and Rhombencephalosynapsis.Vezain M, Lecuyer M, Rubio M, Dupé V, Ratié L, David V, Pasquier L, Odent S, Coutant S, Tournier I, Trestard L, Adle-Biassette H, Vivien D, Frébourg T, Gonzalez BJ, Laquerrière A and Saugier-Veber P. Acta Neuropathologica Communications. 2018 Oct.

Recent advances in understanding inheritance of holoprosencephaly. Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé V. Am J Med Genet. C. 2018 May.

Du cyclope à la réalité, un nouveau regard sur la génétique de l'holoprosencéphalie. Dupé V, Dubourg C, de Tayrac M, David V. Médecine/Science. 2017 Nov.

Gene regulation and chromatin organization: relevance of cohesine mutations to human disease. Watrin E, Kaiser FJ, Wendt KS. Curr Opin Genet Dev. 2016 Apr.

Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain.Ware M, Hamdi-Rozé H, Le Friec J, David V, Dupé V. Neural Development. 2016 Dec.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 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. Genome Res. 2016

Mutational Spectrum in Holoprosencephaly Shows That Fgf is a New Major Signaling Pathway. 
Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V. 
Hum. Mutat. 2016 Jul.

Evolutionary conservation of the early axon scaffold in the vertebrate brain. Ware M, Dupé V, Schubert FR. Dev. Dyn. 2015 Oct.

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