Evidence map›Paper›PMID 39456985›Full record

ArticleInternational journal of molecular sciences2024

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

Fatemeh Ghorbani, Eddy N de Boer, Michiel R Fokkens, Jelkje de Boer-Bergsma, Corien C Verschuuren-Bemelmans, Elles Wierenga, Hamidreza Kasaei, Daan Noordermeer, Dineke S Verbeek, Helga Westers and 1 more

Abstract read
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In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence ofInternational journal of molecular sciences · 2024
    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

11 authors.

Fatemeh GhorbaniDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.
Eddy N de BoerDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.ORCID 0000-0002-7138-8642
Michiel R FokkensDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.
Jelkje de Boer-BergsmaDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.ORCID 0000-0001-5452-4262
Corien C Verschuuren-BemelmansDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.
Elles WierengaDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.
Hamidreza KasaeiDepartment of Artificial Intelligence, University of Groningen, 9700 AK Groningen, The Netherlands.
Daan NoordermeerCommissariat à l'Énergie Atomique et aux Énergies Alternatives (CEA), Centre National de la Recherche Scientifique (CNRS), Institute for Integrative Biology of the Cell (I2BC), Université Paris-Saclay, 91198 Gif-sur-Yvette, France.ORCID 0000-0002-9296-7002
Dineke S VerbeekDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.ORCID 0000-0002-4759-7006
Helga WestersDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.ORCID 0000-0001-8291-5949
Cleo C van DiemenDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.ORCID 0000-0001-9283-2207

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Currently, routine diagnostics for spinocerebellar ataxia (SCA) look for polyQ repeat expansions and conventional variations affecting the proteins encoded by known SCA genes. However, ~40% of the patients still remain without a genetic diagnosis after routine tests. Increasing evidence suggests that variations in the enhancer regions of genes involved in neurodegenerative disorders can also cause disease. Since the enhancers of SCA genes are not yet known, it remains to be determined whether variations in these regions are a cause of SCA. In this pilot project, we aimed to identify the enhancers of the SCA genes

Indexed as

Ataxin-1Ataxin-3DNA Copy Number VariationsEnhancer Elements, GeneticInositol 1,4,5-Trisphosphate ReceptorsSpinocerebellar AtaxiasCerebellumFemaleHumansMaleMiddle AgedPilot ProjectsRepressor ProteinsTATA-Box Binding ProteinAtaxin-1Ataxin-3ATXN1 protein, humanATXN3 protein, humanInositol 1,4,5-Trisphosphate ReceptorsITPR1 protein, humanRepressor ProteinsTATA-Box Binding ProteinTBP protein, human4C-seqenhancergenetic diagnosisspinocerebellar ataxia

Identifiers

PMID39456985
PMCPMC11508295

What Socratic holds

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Registered trials

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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 Socratic graph.