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Decrease of Pdzrn3 is required for heart maturation and protects against heart failure.

Autor: Pernot, Mathieu¹ (AUTHOR), Jaspard-vinassa, Béatrice¹ (AUTHOR), Abelanet, Alice¹ (AUTHOR), Rubin, Sebastien¹ (AUTHOR), Forfar, Isabelle¹ (AUTHOR), Jeanningros, Sylvie¹ (AUTHOR), Cetran, Laura¹ (AUTHOR), Yu, Murielle Han-Yee¹ (AUTHOR), Balse, Elise² (AUTHOR), Hatem, Stéphane² (AUTHOR), Dufourcq, Pascale^1,3 (AUTHOR), Couffinhal, Thierry^1,4 (AUTHOR), Duplàa, Cécile¹ (AUTHOR) cecile.duplaa@inserm.fr

Publikováno v: Scientific Reports. 1/7/2022, Vol. 12 Issue 1, p1-17. 17p.

Sonic hedgehog mediates a novel pathway of PDGF-BB–dependent vessel maturation

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Identification of Mutated in colorectal cancer (MCC) protein as a novel partner of PDZRN3 during Blood brain barrier development

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A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codone

Autor: Labrouche-Colomer, Sylvie, Soukarieh, Omar, Proust, Carole, Mouton, Christine, Huguenin, Yoann, Roux, Maguelonne, Besse, Céline, Boland, Anne, Olaso, Robert, Constans, Joël, Deleuze, Jean-François, Morange, Pierre-Emmanuel, Jaspard-Vinassa, Béatrice, Trégouët, David-Alexandre

Publikováno v: Clinical Science
Clinical Science, 2020, 134 (10), pp.1181-1190. ⟨10.1042/CS20200403⟩
Clinical Science, Portland Press, 2020, 134 (10), pp.1181-1190. ⟨10.1042/CS20200403⟩

International audience; Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of ven

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::97c1f33e62ddef0a93228803066653a8
http://hdl.handle.net/20.500.12278/26081