Evidence map›Paper›PMID 24009312›Full record

ArticleHuman molecular genetics2014

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.

Leslie E Rogler, Brian Kosmyna, David Moskowitz, Remon Bebawee, Joseph Rahimzadeh, Katrina Kutchko, Alain Laederach, Luigi D Notarangelo, Silvia Giliani, Eric Bouhassira and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.

0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed
3.1field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

55 citing papers in PubMed, 89 citations in OpenAlex.

  1. Trial
  2. Human lncRNAProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  3. Review
  4. Review
  5. Article
  6. RNA Polymerases I and III in development and disease.Seminars in cell & developmental biology · 2023
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. ALKBH5-mediated m6A demethylation of lncRNA RMRP plays an oncogenic role in lung adenocarcinoma.Mammalian genome : official journal of the International Mammalian Genome Society · 2021
    Article
  14. Overlapping mechanisms of lncRNA and expanded microsatellite RNA.Wiley interdisciplinary reviews. RNA · 2021
    Review
  15. Article
  16. Article
  17. Review
  18. Review
  19. Review
  20. RNA base-pairing complexity in living cells visualized by correlated chemical probing.Proceedings of the National Academy of Sciences of the United States of America · 2019
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 4 institutions in 2 countries.

Leslie E RoglerDepartment of Medicine.
Brian Kosmyna
David Moskowitz
Remon Bebawee
Joseph Rahimzadeh
Katrina Kutchko
Alain Laederach
Luigi D Notarangelo
Silvia Giliani
Eric Bouhassira
Paul Frenette
Jayanta Roy-Chowdhury
Charles E Rogler
University of North Carolina at Chapel Hill · USAlbert Einstein College of Medicine · USHarvard University · USUniversity of Brescia · IT

Funding

Special Animal CoreP30DK041296 · NIDDK · YESHIVA UNIVERSITY · PI WOLKOFF, ALLAN W · 1989 to 2018
$22.9M
Non-coding RNA structure change in Chronic Obstructive Pulmonary DiseaseR01HL111527 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Alain T Laederach, Kevin M Weeks · 2012 to 2026
$6.6M
Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)U24AI086037 · NIAID · IMMUNE DEFICIENCY FOUNDATION · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2010 to 2019
$6.5M
WHV AND HBV ASSOCIATED HEPATOCELLULAR CARCINOMAR01CA037232 · NCI · YESHIVA UNIVERSITY · PI ROGLER, CHARLES E. · 1985 to 2011
$5.2M
Modeling and correcting human SCID using patient-derived iPS cellsR01AI100887 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI MANIS, JOHN P · 2012 to 2020
$4.5M
Structural and functional consequences of disease SNPs on the transcriptomeR01GM101237 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI LAEDERACH, ALAIN T · 2012 to 2020
$2.5M
NCI NIH HHS R01 CA 37232-28NHLBI NIH HHS R01 HL111527NIAID NIH HHS 1U24AI086037-01NIAID NIH HHS R01 AI100887NIAID NIH HHS R01AI100887-01NIDDK NIH HHS P30 DK041296NIDDK NIH HHS P30 DK41296-21NIGMS NIH HHS R01 GM101237NIGMS NIH HHS R01GM101237
6 · The paper itself

Abstract

Post-transcriptional processing of some long non-coding RNAs (lncRNAs) reveals that they are a source of miRNAs. We show that the 268-nt non-coding RNA component of mitochondrial RNA processing endoribonuclease, (RNase MRP), is the source of at least two short (∼20 nt) RNAs designated RMRP-S1 and RMRP-S2, which function as miRNAs. Point mutations in RNase MRP cause human cartilage-hair hypoplasia (CHH), and several disease-causing mutations map to RMRP-S1 and -S2. SHAPE chemical probing identified two alternative secondary structures altered by disease mutations. RMRP-S1 and -S2 are significantly reduced in two fibroblast cell lines and a B-cell line derived from CHH patients. Tests of gene regulatory activity of RMRP-S1 and -S2 identified over 900 genes that were significantly regulated, of which over 75% were down-regulated, and 90% contained target sites with seed complements of RMRP-S1 and -S2 predominantly in their 3' UTRs. Pathway analysis identified regulated genes that function in skeletal development, hair development and hematopoietic cell differentiation including PTCH2 and SOX4 among others, linked to major CHH phenotypes. Also, genes associated with alternative RNA splicing, cell proliferation and differentiation were highly targeted. Therefore, alterations RMRP-S1 and -S2, caused by point mutations in RMRP, are strongly implicated in the molecular mechanism of CHH.

Indexed as

RNA InterferenceAlternative SplicingCell LineEndoribonucleasesHairHEK293 CellsHematopoiesisHigh-Throughput Nucleotide SequencingHirschsprung DiseaseHumansImmunologic Deficiency SyndromesLiverMicroRNAsNucleic Acid ConformationOsteochondrodysplasiasPatched-2 ReceptorEndoribonucleasesMicroRNAsmitochondrial RNA-processing endoribonucleasePatched-2 ReceptorPatched ReceptorsPTCH2 protein, humanReceptors, Cell SurfaceRNA, Long NoncodingSOX4 protein, humanSOXC Transcription Factors

Identifiers

PMID24009312
PMCPMC3869355
OpenAlexW2118609877

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.