Evidence map›Paper›PMID 34896608›Full record

ArticleJournal of genetics and genomics = Yi chuan xue bao2022

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.

Elisabetta Morini, Dadi Gao, Emily M Logan, Monica Salani, Aram J Krauson, Anil Chekuri, Yei-Tsung Chen, Ashok Ragavendran, Probir Chakravarty, Serkan Erdin and 4 more

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

Article in Journal of genetics and genomics = Yi chuan xue bao, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.0field-weighted citation impact, top 27% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024
    Article
  3. Article
  4. Article
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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

14 authors at 6 institutions in 4 countries.

Elisabetta MoriniCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA.
Dadi GaoCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Emily M LoganCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.
Monica SalaniCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.
Aram J KrausonCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.
Anil ChekuriCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA.
Yei-Tsung ChenDepartment of Life Sciences and Institute of Genome Sciences, National Yang Ming Chiao Tung University, Taiwan.
Ashok RagavendranCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Probir ChakravartyBioinformatics and Biostatistics, The Francis Crick Institute, London, UK.
Serkan ErdinCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Alexei StortchevoiCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Jesper Q SvejstrupMechanisms of Transcription Laboratory, The Francis Crick Institute, London, UK; Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.
Michael E TalkowskiCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Susan A SlaugenhauptCenter for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA. Electronic address: slaugenhaupt@mgh.harvard.edu.
Broad Institute · USHarvard University · USMassachusetts General Hospital · USNational Yang Ming Chiao Tung University · TWThe Francis Crick Institute · GBUniversity of Copenhagen · DK

Funding

mRNA Splicing Modulation in Familial DysautonomiaR37NS095640 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI SLAUGENHAUPT, SUSAN A · 2016 to 2022
$4.5M
Cancer Research UK 11567NINDS NIH HHS R37 NS095640
6 · The paper itself

Abstract

Familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy, is caused by a mutation in the Elongator complex protein 1 (ELP1) gene that leads to a tissue-specific reduction of ELP1 protein. Our work to generate a phenotypic mouse model for FD headed to the discovery that homozygous deletion of the mouse Elp1 gene leads to embryonic lethality prior to mid-gestation. Given that FD is caused by a reduction, not loss, of ELP1, we generated two new mouse models by introducing different copy numbers of the human FD ELP1 transgene into the Elp1 knockout mouse (Elp1

Indexed as

Carrier ProteinsDysautonomia, FamilialAnimalsDisease Models, AnimalGene ExpressionHomozygoteHumansMiceSequence DeletionCarrier ProteinsElongatorELP1Familial dysautonomiaNeurodevelopmental diseaseTranscriptional elongation

Identifiers

PMID34896608
PMCPMC9254147
OpenAlexW4225997240

What OpenQuestion holds

Textmetadata
LicenceTDM
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.