Associated Papers
Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.
Milovanova A et al.
International Journal of Molecular Sciences, 2025
In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.
Ichikawa Y et al.
Pediatric Nephrology (berlin, Germany), 2024
39093455 (PubMed )
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On the Interaction Between SMARCAL1 and BRG1.
Bisht D et al.
Frontiers in Cell and Developmental Biology, 2022
SMARCAL1, the annealing helicase and the transcriptional co-regulator.
Bansal R et al.
Iubmb Life, 2020
Clinical Characteristics of Moyamoya Angiopathy in a Pediatric Cohort.
Pines AR et al.
Journal of Child Neurology, 2020
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Sanyal M et al.
Clinical Immunology (orlando, Fla.), 2015
Ligand-induced conformation changes drive ATP hydrolysis and function in SMARCAL1.
Gupta M et al.
The Febs Journal, 2015
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Morimoto M et al.
Orphanet Journal of Rare Diseases, 2012
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
Elizondo LI et al.
Journal of Medical Genetics, 2009
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Clewing JM et al.
Human Mutation, 2007
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Boerkoel CF et al.
Nature Genetics, 2002
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