Evidence map›Paper›PMID 29255062›Full record

ArticleRNA (New York, N.Y.)2018

Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.

Antto J Norppa, Tuuli M Kauppala, Harri A Heikkinen, Bhupendra Verma, Hideo Iwaï, Mikko J Frilander

Open access · bronzeAbstract read
In one paragraph

Article in RNA (New York, N.Y.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.0field-weighted citation impact, top 24% 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

11 citing papers in PubMed, 21 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Response to growth hormone in patients withEMBO molecular medicine · 2018
    Article
  11. Review
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

6 authors at 1 institution in 1 country.

Antto J Norppa *Institute of Biotechnology, FI-00014 University of Helsinki, Finland.ORCID 0000-0001-7712-3218
Tuuli M Kauppala *Institute of Biotechnology, FI-00014 University of Helsinki, Finland.
Harri A HeikkinenInstitute of Biotechnology, FI-00014 University of Helsinki, Finland.
Bhupendra VermaInstitute of Biotechnology, FI-00014 University of Helsinki, Finland.
Hideo IwaïInstitute of Biotechnology, FI-00014 University of Helsinki, Finland.ORCID 0000-0001-7376-5264
Mikko J FrilanderInstitute of Biotechnology, FI-00014 University of Helsinki, Finland.ORCID 0000-0002-1732-4808
University of Helsinki · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the components of the minor spliceosome underlie several human diseases. A subset of patients with isolated growth hormone deficiency (IGHD) harbors mutations in the

Indexed as

Models, MolecularNonsense Mediated mRNA DecaySpliceosomesCodon, NonsenseDwarfism, PituitaryHeLa CellsHumansIntronsMutation, MissenseNuclear ProteinsProlineRibonucleoproteins, Small NuclearRNA-Binding MotifsRNA-Binding ProteinsRNA, Small NuclearThreonineCodon, NonsenseNuclear ProteinsProlineRibonucleoproteins, Small NuclearRNA-Binding ProteinsRNA, Small NuclearRNPC3 protein, humanThreonineU11-U12 small nuclear ribonucleoproteinU12 small nuclear RNAminor spliceosomeRNA–protein interactionsRNA recognition motifU11/U12-65KU11/U12 di-snRNP

Identifiers

PMID29255062
PMCPMC5824358
OpenAlexW2781426405

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.