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Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

The ubiquitously expressed small GTPase Ras-related protein 1B (RAP1B) acts as a molecular switch that regulates cell signaling, cytoskeletal remodeling, and cell trafficking and activates integrins in platelets and lymphocytes. The residue G12 in the P-loop is required for the RAP1B-GTPase conforma...

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I tiakina i:
Ngā kaituhi matua: Marta Benavides-Nieto, Frédéric Adam, Emmanuel Martin, Charlotte Boussard, Chantal Lagresle-Peyrou, Isabelle Callebaut, Alexandre Kauskot, Christelle Repérant, Miao Feng, Jean-Claude Bordet, Martin Castelle, Guillaume Morelle, Chantal Brouzes, Mohammed Zarhrate, Patricia Panikulam, Nathalie Lambert, Capucine Picard, Damien Bodet, Jérémie Rouger-Gaudichon, Patrick Revy, Jean-Pierre de Villartay, Despina Moshous
Hōputu: Artigo
Reo:Inglês
I whakaputaina: American Society for Clinical Investigation 2024-09-01
Rangatū:The Journal of Clinical Investigation
Ngā marau:
Hematology
Immunology
Urunga tuihono:https://doi.org/10.1172/JCI169994
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