ReviewCurrent opinion in hematology2011
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.
Review in Current opinion in hematology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Pooled it
- Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome.Frontiers in pediatrics · 2025Article
- Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.Frontiers in genetics · 2025Article
- [Allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a report of three cases and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunit.Nucleic acids research · 2023Article
- The mesenchymal compartment in myelodysplastic syndrome: Its role in the pathogenesis of the disorder and its therapeutic targeting.Frontiers in oncology · 2023Review
- Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia.Frontiers in genetics · 2022Article
- [Shwachman-Diamond syndrome and myelodysplastic syndrome with genetic predisposition to myeloid malignancies: two cases report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2021Review
- Article
- Review
- MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction.JCI insight · 2020Article
- Review
- TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome.The Journal of clinical investigation · 2019Article
- The Evidence for Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Neutrophil Disorders: A Comprehensive Review by the Inborn Errors Working Party Group of the EBMT.Frontiers in pediatrics · 2019Review
- Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.Cell reports · 2018Article
- Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia.Clinical case reports · 2018Article
- Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.American journal of human genetics · 2016Article
- Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.Haematologica · 2015Article
- A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome.Haematologica · 2015Article
- Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.Hematology/oncology clinics of North America · 2013Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
purpose of reviewShwachman-Diamond syndrome (SDS) is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are found in the majority of patients, but the molecular function of the SBDS protein product remains unclear. In this article, we review recent progress in the clinical and molecular characterization of SDS. RECENT
findingsEmerging data support a multifunctional role for the SBDS protein. Current studies indicate that SBDS functions in 60S large ribosomal subunit maturation and in mitotic spindle stabilization. Recent data suggest that it may also affect actin polymerization, vacuolar pH regulation, and DNA metabolism. SBDS loss results in both hematopoietic cell-intrinsic defects as well as marrow stromal abnormalities. SUMMARY: SDS is a multisystemic disease arising from defects in a protein that participates in several essential cellular processes. Elucidating the molecular function of SBDS will provide important insights into how defects in ribosome biogenesis and mitotic spindle stabilization result in hematopoietic failure, cancer predisposition, and abnormalities.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.