Associated Papers
Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.
Resnick O et al.
Jcem Case Reports, 2026
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.
Rabin R et al.
American Journal of Medical Genetics. Part A, 2026
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.
Pascolini G et al.
Molecular Genetics & Genomic Medicine, 2024
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Tessarech M et al.
American Journal of Medical Genetics. Part A, 2020
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA et al.
American Journal of Medical Genetics. Part A, 2020
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair.
Brickner JR et al.
Nature, 2017
The double-domain cytidine deaminase APOBEC3G is a cellular site-specific RNA editing enzyme.
Sharma S et al.
Scientific Reports, 2016
27974822 (PubMed )
Supplement: srep39100-s2.xls › Data
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA et al.
Journal of Medical Genetics, 2015
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Tarpey PS et al.
Nature Genetics, 2009
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