ArticleScientific reports2019
The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 38 citations in OpenAlex.
- Cumulative microscopy reveals cellular states in fibroblasts from patients with genetic disorders.EMBO reports · 2026Article
- Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia.JCEM case reports · 2026Article
- Human lncRNAProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Cartilage-hair hypoplasia: A comprehensive review.Journal of human immunity · 2025Review
- Review
- Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenicJBMR plus · 2025Article
- RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.Molecular medicine reports · 2025Article
- A deep intronicJBMR plus · 2025Article
- Analyzing the role of ferroptosis in ribosome-related bone marrow failure disorders: From pathophysiology to potential pharmacological exploitation.IUBMB life · 2024Review
- The DoGA consortium expression atlas of promoters and genes in 100 canine tissues.Nature communications · 2024Article
- Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.Scientific reports · 2024Article
- Noncoding RNA Contribution to Aging and Lifespan.The journals of gerontology. Series A, Biological sciences and medical sciences · 2024Article
- Article
- RNA Polymerases I and III in development and disease.Seminars in cell & developmental biology · 2023Review
- Genetic variation inBone reports · 2022Article
- Widespread association of ERα with RMRP and tRNA genes in MCF-7 cells and breast cancers.Gene · 2022Article
- A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.Nature communications · 2022Article
- Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form.Frontiers in immunology · 2022Article
- The role of RNA processing and regulation in metastatic dormancy.Seminars in cancer biology · 2022Review
- Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.Frontiers in immunology · 2022Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
RMRP was the first non-coding nuclear RNA gene implicated in a disease. Its mutations cause cartilage-hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia with growth failure, immunodeficiency, and a high risk for malignancies. This study aimed to gain further insight into the role of RNA Component of Mitochondrial RNA Processing Endoribonuclease (RMRP) in cellular physiology and disease pathogenesis. We combined transcriptome analysis with single-cell analysis using fibroblasts from CHH patients and healthy controls. To directly assess cell cycle progression, we followed CHH fibroblasts by pulse-labeling and time-lapse microscopy. Transcriptome analysis identified 35 significantly upregulated and 130 downregulated genes in CHH fibroblasts. The downregulated genes were significantly connected to the cell cycle. Multiple other pathways, involving regulation of apoptosis, bone and cartilage formation, and lymphocyte function, were also affected, as well as PI3K-Akt signaling. Cell-cycle studies indicated that the CHH cells were delayed specifically in the passage from G2 phase to mitosis. Our findings expand the mechanistic understanding of CHH, indicate possible pathways for therapeutic intervention and add to the limited understanding of the functions of RMRP.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.