ReviewHematology/oncology clinics of North America2013
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.
Review in Hematology/oncology clinics of North America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
56 citing papers in PubMed, 118 citations in OpenAlex.
- Beyond Cystic Fibrosis: Recognising Shwachman-Diamond Syndrome in the Respiratory Clinic.Respirology case reports · 2025Article
- Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.Frontiers in genetics · 2025Article
- Etiologies of exocrine pancreatic insufficiency.Gastroenterology report · 2025Review
- A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.Journal of clinical immunology · 2024Article
- Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy.JPGN reports · 2024Article
- Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.International journal of molecular sciences · 2024Review
- Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication.Experimental biology and medicine (Maywood, N.J.) · 2024Review
- Pediatric Bone Marrow Failure: A Broad Landscape in Need of Personalized Management.Journal of clinical medicine · 2023Review
- Review
- Site-specific labeling of SBDS to monitor interactions with the 60S ribosomal subunit.Methods (San Diego, Calif.) · 2023Article
- Exocrine Pancreatic Insufficiency in Children - Challenges in Management.Pediatric health, medicine and therapeutics · 2023Review
- Altered Conformational Landscape upon Sensing Guanine Nucleotides in a Disease Mutant of Elongation Factor-like 1 (EFL1) GTPase.Biomolecules · 2022Article
- Inducible Sbds deletion impairs bone marrow niche capacity to engraft donor bone marrow after transplantation.Blood advances · 2022Article
- When to worry about inherited bone marrow failure and myeloid malignancy predisposition syndromes in the setting of a hypocellular marrow.Hematology. American Society of Hematology. Education Program · 2021Review
- The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.Molecular cytogenetics · 2021Article
- Arhgef2 regulates mitotic spindle orientation in hematopoietic stem cells and is essential for productive hematopoiesis.Blood advances · 2021Article
- Article
- SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.Blood · 2021Article
- Review
- The Functional Hallmarks of Cancer Predisposition Genes.Cancer management and research · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Shwachman-Diamond syndrome (SDS) is an inherited neutropenia syndrome associated with a significant risk of aplastic anemia and malignant transformation. Multiple additional organ systems, including the pancreas, liver, and skeletal and central nervous systems, are affected. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are present in most patients. There is growing evidence that SBDS functions in ribosomal biogenesis and other cellular processes. This article summarizes the clinical phenotype of SDS, diagnostic and treatment approaches, and novel advances in our understanding of the molecular pathophysiology of this disease.
Indexed as
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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.