Associated Papers
Structural Implications of Missense Point Mutations in Shwachman-Bodian-Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation.
Mattiotti G et al.
Acs Omega, 2025
Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.
Oyarbide U et al.
The Journal of Clinical Investigation, 2025
39964763 (PubMed )
Supplement: jci-135-187778-s146.pdf
Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.
Cipolli M et al.
British Journal of Haematology, 2024
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Kennedy AL et al.
Nature Communications, 2021
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini J et al.
British Journal of Haematology, 2019
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
Nacci L et al.
British Journal of Haematology, 2014
Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
Yamaguchi M et al.
International Journal of Hematology, 2011
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Shwachman-Diamond syndrome presenting as hypoglycemia.
Albrecht LA et al.
Clinical Pediatrics, 2009
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
Maserati E et al.
Genes, Chromosomes & Cancer, 2006
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Shammas C et al.
The Journal of Biological Chemistry, 2005
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
Nicolis E et al.
Human Mutation, 2005
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
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