ArticleAmerican journal of human genetics2008
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Mutant TP53 hijacks RNA-splicing factor RBM28 to suppress double-stranded RNA triggered antitumor immunity.Nature communications · 2026Article
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- Hypopituitarism: genetic, developmental, and acquired etiologies with a focus on the emerging concept of autoimmune hypophysitis.Endocrine journal · 2025Review
- A role for the kinetochore protein, NUF2, in ribosome biogenesis.Molecular biology of the cell · 2025Article
- Emergence of the primordial pre-60S from the 90S pre-ribosome.Cell reports · 2022Article
- 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
- Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Whole-Genome Methylation Analysis Revealed ART-Specific DNA Methylation Pattern of Neuro- and Immune-System Pathways in Chinese Human Neonates.Frontiers in genetics · 2021Article
- Ribosomopathies: Old Concepts, New Controversies.Trends in genetics : TIG · 2019Review
- Uncovering the assembly pathway of human ribosomes and its emerging links to disease.The EMBO journal · 2019Review
- Rare ribosomopathies: insights into mechanisms of cancer.Nature reviews. Cancer · 2019Review
- Article
- Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.Advances in biological regulation · 2018Review
- Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Neural plasticity · 2017Review
- Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Endocrine reviews · 2016Review
- Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.BMC developmental biology · 2016Article
- Language Impairment Resulting from a de novo Deletion of 7q32.1q33.Molecular syndromology · 2016Article
- Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.PLoS genetics · 2016Article
- The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome.eLife · 2016Article
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast ortholog, Nop4p, was previously found to regulate ribosome biogenesis. Accordingly, electron microscopy revealed marked ribosome depletion and structural abnormalities of the rough endoplasmic reticulum in patient cells, ascribing ANE syndrome to the restricted group of inherited disorders associated with ribosomal dysfunction.
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