ArticleProceedings of the National Academy of Sciences of the United States of America2021
Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- Larp1 supports brain growth and spatial memory via post-transcriptional control of the translation machinery.bioRxiv : the preprint server for biology · 2025Article
- A role for the kinetochore protein, NUF2, in ribosome biogenesis.Molecular biology of the cell · 2025Article
- Transcripts of splicing factors with time-varying associations with survival outcomes in colorectal cancer.American journal of cancer research · 2025Article
- Article
- Potentials of ribosomopathy gene as pharmaceutical targets for cancer treatment.Journal of pharmaceutical analysis · 2024Review
- Discovery of novel microRNA mimic repressors of ribosome biogenesis.Nucleic acids research · 2024Article
- NOC1 is a direct MYC target, and its protein interactome dissects its activity in controlling nucleolar function.Frontiers in cell and developmental biology · 2023Article
- U8 variants on the brain: a small nucleolar RNA and human disease.RNA biology · 2022Review
- Yeast Crf1p: An activator in need is an activator indeed.Computational and structural biotechnology journal · 2022Review
- Faulty ribosome biogenesis underlies the ribosomopathy alopecia, neurological defects, endocrinopathy (ANE) syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Alopecia, neurologic defects, and endocrinopathy (ANE) syndrome is a rare ribosomopathy known to be caused by a p.(Leu351Pro) variant in the essential, conserved, nucleolar large ribosomal subunit (60S) assembly factor RBM28. We report the second family of ANE syndrome to date and a female pediatric ANE syndrome patient. The patient presented with alopecia, craniofacial malformations, hypoplastic pituitary, and hair and skin abnormalities. Unlike the previously reported patients with the p.(Leu351Pro)
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