Associated Papers
Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.
Aslan ES et al.
Life (basel, Switzerland), 2025
A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.
Ruggieri AG et al.
International Journal of Molecular Sciences, 2025
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.
Gatz C et al.
Frontiers in Neurology, 2019
SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.
Inaguma Y et al.
Embo Molecular Medicine, 2014
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M et al.
Brain : a Journal of Neurology, 2013
Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
Horvers M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.
Howes J et al.
The Journal of Biological Chemistry, 2012
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
Takahata T et al.
Journal of Human Genetics, 2010
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.
Riazuddin SA et al.
Molecular Vision, 2009
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
Anttonen AK et al.
European Journal of Human Genetics : Ejhg, 2008
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