Evidence map›Paper›PMID 30820140›Full record

ArticleMolecular vision2019

A splice-site variant in the lncRNA gene

Hans Eiberg, Annemette F Mikkelsen, Mads Bak, Niels Tommerup, Allan M Lund, Anne Wenzel, Radhakrishnan Sabarinathan, Jan Gorodkin, Claus H Bang-Berthelsen, Lars Hansen

Open access · greenAbstract read
PubMed Full text at PMC
In one paragraph

Article in Molecular vision, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 55% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Through theGenes · 2024
    Review
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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

10 authors at 4 institutions in 1 country.

Hans EibergRCLINK, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.
Annemette F MikkelsenRCLINK, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.
Mads BakDepartment of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Niels TommerupWilhelm Johansen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.
Allan M LundDepartment of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Anne WenzelCenter for non-coding RNA in Technology and Health, Department of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.
Radhakrishnan SabarinathanCenter for non-coding RNA in Technology and Health, Department of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.
Jan GorodkinCenter for non-coding RNA in Technology and Health, Department of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.
Claus H Bang-BerthelsenResearch Group for Microbial Biotechnology and Biorefining, National Food Institute, Technical University of Denmark, Lyngby, Denmark.
Lars HansenCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.
University of Copenhagen · DKCopenhagen University Hospital · DKRigshospitalet · DKTechnical University of Denmark · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To identify the mutation for Volkmann cataract ( Methods: The genes in the candidate region 1p36.33 were Sanger and parallel deep sequenced, and informative single nucleotide polymorphisms (SNPs) were identified for linkage analysis. Expression analysis with reverse transcription polymerase chain reaction (RT-PCR) of the candidate gene was performed using RNA from different human tissues. Quantitative transcription polymerase chain reaction (qRT-PCR) analysis of the Results: Linkage analysis of the 1p36.33 CCV locus applying new marker systems obtained with Sanger and deep sequencing reduced the candidate locus from 2.1 Mb to 0.389 Mb flanked by the markers STS-22AC and rs549772338 and resulted in an logarithm of the odds (LOD) score of Z = 21.67. The identified mutation, rs763295804, affects the donor splice site in the long non-coding RNA gene Conclusions: The mutation in

Indexed as

MutationAcetylationAdultBase SequenceBinding SitesCataractChromosomes, Human, Pair 1Eukaryotic Initiation Factor-4AExonsFamilyFemaleGenes, DominantGenetic LociGenetic MarkersHigh-Throughput Nucleotide SequencingHistonesEukaryotic Initiation Factor-4AGenetic MarkersHistonesRNA, Long NoncodingRNA, MessengerRNA Splice Sites

Identifiers

PMID30820140
PMCPMC6377377
OpenAlexW2914653808

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.