ArticleOrphanet journal of rare diseases2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Article in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 32 citations in OpenAlex.
- Clinical, Radiologic, and Genetic Spectrum of Schimke Immuno-Osseous Dysplasia.Balkan medical journal · 2026Article
- Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.International journal of molecular sciences · 2025Article
- Cerebral arteriopathies of childhood and stroke - A focus on systemic arteriopathies and pediatric fibromuscular dysplasia (FMD).Vascular medicine (London, England) · 2024Review
- Chromatin regulator SMARCAL1 modulates cellular lipid metabolism.Communications biology · 2023Article
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.Italian journal of pediatrics · 2023Article
- Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia.Iranian journal of child neurology · 2018Article
- A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report.BMC pediatrics · 2017Article
- Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?Orphanet journal of rare diseases · 2016Article
- Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia.Nucleus (Austin, Tex.) · 2016Article
- Aortic dilation, genetic testing, and associated diagnoses.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.Pediatric research · 2015Article
- Bone marrow transplantation in Schimke immuno-osseous dysplasia.American journal of medical genetics. Part A · 2013Review
Corrections and comments
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Authors and funding
47 authors at 20 institutions in 14 countries.
Funding
Abstract
backgroundArteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown.
methodsWe reviewed the records of 65 patients with SMARCAL1 mutations. Molecular and immunohistochemical analyses were conducted on autopsy tissue from 4 SIOD patients.
resultsThirty-two of 63 patients had signs of arteriosclerosis and 3 of 51 had signs of emphysema. The arteriosclerosis was characterized by intimal and medial hyperplasia, smooth muscle cell hyperplasia and fragmented and disorganized elastin fibers, and the pulmonary disease was characterized by panlobular enlargement of air spaces. Consistent with a cell autonomous disorder, SMARCAL1 was expressed in arterial and lung tissue, and both the aorta and lung of SIOD patients had reduced expression of elastin and alterations in the expression of regulators of elastin gene expression.
conclusionsThis first comprehensive study of the vascular and pulmonary complications of SIOD shows that these commonly cause morbidity and mortality and might arise from impaired elastogenesis. Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD.
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