Associated Papers
Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Kawashima N et al.
Haematologica, 2023
Acute myeloid leukemia in SRP54-mutated congenital neutropenia.
Sabulski A et al.
Ejhaem, 2022
Receptor compaction and GTPase rearrangement drive SRP-mediated cotranslational protein translocation into the ER.
Lee JH et al.
Science Advances, 2021
SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.
Schürch C et al.
Blood, 2021
Cellular Traffic Jam and Disease Due to Mutations in SRP54.
Weichenrieder O
Structure (london, England : 1993), 2021
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.
Saettini F et al.
British Journal of Haematology, 2020
Translational Control of Secretory Proteins in Health and Disease.
Karamyshev AL et al.
International Journal of Molecular Sciences, 2020
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C et al.
Blood, 2018
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R et al.
The Journal of Clinical Investigation, 2017
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