Associated Papers
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants
Serum starvation enhances nonsense mutation readthrough.
Wittenstein A et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity.
Baradaran-Heravi A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS et al.
Plos One, 2017
Novel small molecules potentiate premature termination codon readthrough by aminoglycosides.
Baradaran-Heravi A et al.
Nucleic Acids Research, 2016
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
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Baradaran-Heravi A et al.
Human Molecular Genetics, 2012
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
Zieg J et al.
Pediatric Rheumatology Online Journal, 2011
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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