Associated Papers
The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.
Geng C et al.
Journal of Clinical Neurology (seoul, Korea), 2025
Azacitidine combined with venetoclax alleviates AML-MR with TP53 mutation in SDS: a case report and literature review.
Ma C et al.
Anti-cancer Drugs, 2024
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
Reilly CR et al.
Blood, 2023
Somatic genetic rescue of a germline ribosome assembly defect.
Tan S et al.
Nature Communications, 2021
Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.
Bezzerri V et al.
American Journal of Hematology, 2018
Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms.
Perez Botero J et al.
British Journal of Haematology, 2018
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
Nacci L et al.
Genes, Chromosomes & Cancer, 2017
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
Yamaguchi M et al.
International Journal of Hematology, 2011
SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane.
Watanabe K et al.
Apoptosis : an International Journal on Programmed Cell Death, 2009
Mutations in the SBDS gene in acquired aplastic anemia.
Calado RT et al.
Blood, 2007
The Shwachman-Diamond SBDS protein localizes to the nucleolus.
Austin KM et al.
Blood, 2005
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.
Kuijpers TW et al.
Blood, 2005
Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.
Lima RM et al.
Journal of Pediatric Gastroenterology and Nutrition, 2005