Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Key Points Identification of SRP54 mutations in congenital neutropenia. SRP54 mutations induce ER stress and autophagy associated with apoptosis.

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Veröffentlicht in:Blood 2018-09, Vol.132 (12), p.1318-1331
Hauptverfasser: Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Format: Artikel
Sprache:eng
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Life Sciences
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Zusammenfassung:Key Points Identification of SRP54 mutations in congenital neutropenia. SRP54 mutations induce ER stress and autophagy associated with apoptosis.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood-2017-12-820308