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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. Pinard A, et al. Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26. Hum Mutat. 2016. PMID: 27600092
Piezo1 is required for outflow tract and aortic valve development.
Faucherre A, Moha Ou Maati H, Nasr N, Pinard A, Theron A, Odelin G, Desvignes JP, Salgado D, Collod-Béroud G, Avierinos JF, Lebon G, Zaffran S, Jopling C. Faucherre A, et al. Among authors: collod beroud g. J Mol Cell Cardiol. 2020 Jun;143:51-62. doi: 10.1016/j.yjmcc.2020.03.013. Epub 2020 Apr 3. J Mol Cell Cardiol. 2020. PMID: 32251670
Identification of a peripheral blood gene signature predicting aortic valve calcification.
MacGrogan D, Martínez-Poveda B, Desvignes JP, Fernandez-Friera L, Gomez MJ, Gil Vilariño E, Callejas Alejano S, Garcia-Pavia P, Solis J, Lucena J, Salgado D, Collod-Béroud G, Faure E, Théron A, Torrents J, Avierinos JF, Montes L, Dopazo A, Fuster V, Ibañez B, Sánchez-Cabo F, Zaffran S, de la Pompa JL. MacGrogan D, et al. Among authors: collod beroud g. Physiol Genomics. 2020 Dec 1;52(12):563-574. doi: 10.1152/physiolgenomics.00034.2020. Epub 2020 Oct 12. Physiol Genomics. 2020. PMID: 33044885
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
Odelin G, Faucherre A, Marchese D, Pinard A, Jaouadi H, Le Scouarnec S; FranceGenRef Consortium; Chiarelli R, Achouri Y, Faure E, Herbane M, Théron A, Avierinos JF, Jopling C, Collod-Béroud G, Rezsohazy R, Zaffran S. Odelin G, et al. Among authors: collod beroud g. Nat Commun. 2023 Mar 20;14(1):1543. doi: 10.1038/s41467-023-37110-x. Nat Commun. 2023. PMID: 36941270 Free PMC article.
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. Hum Mutat. 2008. PMID: 18781618 Free article.
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.
59 results