Associated Papers
ATP13A1 engages SEC61 to facilitate substrate-specific translocation.
Yang X et al.
Science Advances, 2025
Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Kasmi Z et al.
Immunologic Research, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
Attempts to identify the molecular cause of autoinflammatory recurrent fever.
Boyarchuk O et al.
Reumatologia, 2024
Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Kawashima N et al.
Haematologica, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
Fan EM et al.
American Journal of Medical Genetics. Part A, 2023
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Linder MI et al.
Blood, 2023
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O et al.
Haematologica, 2022
A pediatric case of congenital neutropenia with SRP54 gene mutation in which monocytosis and gingival swelling were useful in differentiating from autoimmune neutropenia.
Manabe T et al.
Pediatric Blood & Cancer, 2022
Acute myeloid leukemia in SRP54-mutated congenital neutropenia.
Sabulski A et al.
Ejhaem, 2022
Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.
McCarthy P et al.
British Journal of Haematology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Case Report: Association between cyclic neutropenia and SRP54 deficiency.
Erdős M et al.
Frontiers in Immunology, 2022
Cellular Traffic Jam and Disease Due to Mutations in SRP54.
Weichenrieder O
Structure (london, England : 1993), 2021
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 2021
Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.
Goldberg L et al.
Pediatric Blood & Cancer, 2020
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
Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution.
Carden MA et al.
Journal of Clinical Immunology, 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
[ACROMIOCLAVICULAR CHANGES AS A CAUSE OF PAINFUL SHOULDER].
KAWENOKI-MINC E et al.
Reumatologia, 1964
Granulocyte morphological abnormalities and molecular diagnosis of SRP54 deficiency in severe congenital neutropenia.
Tsujimoto H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0