Evidence map›Paper›PMID 38449714›Full record

ArticleBrain communications2024

Modification of Huntington's disease by short tandem repeats.

Eun Pyo Hong, Eliana Marisa Ramos, N Ahmad Aziz, Thomas H Massey, Branduff McAllister, Sergey Lobanov, Lesley Jones, Peter Holmans, Seung Kwak, Michael Orth and 11 more

Open access · goldAbstract read
In one paragraph

Article in Brain communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.7field-weighted citation impact, top 10% 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

9 citing papers in PubMed, 10 citations in OpenAlex.

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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

21 authors at 10 institutions in 5 countries.

Eun Pyo HongMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Eliana Marisa RamosMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
N Ahmad AzizPopulation & Clinical Neuroepidemiology, German Center for Neurodegenerative Diseases, 53127 Bonn, Germany.
Thomas H MasseyCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK.
Branduff McAllisterCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK.
Sergey LobanovCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK.
Lesley JonesCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK.
Peter HolmansCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK.
Seung KwakMolecular System Biology, CHDI Foundation, Princeton, NJ 08540, USA.
Michael OrthUniversity Hospital of Old Age Psychiatry and Psychotherapy, Bern University, CH-3000 Bern 60, Switzerland.
Marc CiosiSchool of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.ORCID https://orcid.org/0000-0002-7663-4080
Vilija LomeikaiteSchool of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
Darren G MoncktonSchool of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.ORCID https://orcid.org/0000-0002-8298-8264
Jeffrey D LongDepartment of Psychiatry, Carver College of Medicine and Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, IA 52242, USA.
Diane LucenteMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Vanessa C WheelerMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Tammy GillisMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Marcy E MacDonaldMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Jorge SequeirosUnIGENe, IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 420-135, Portugal.
James F GusellaMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.ORCID https://orcid.org/0000-0003-0681-9263
Jong-Min LeeMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.ORCID https://orcid.org/0000-0001-5799-0787
Cardiff University · GBBroad Institute · USUniversity of Glasgow · GBHarvard University · USMassachusetts General Hospital · USCHDI Foundation · USUniversidade do Porto · PTUniversity Hospital of Bern · CHUniversity of Bonn · DEUniversity of Iowa · US

Funding

TOXICITY AND SPECIFICITY COMPONENTS OF HD PATHOGENESISP50NS016367 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MACDONALD, MARCY · 1996 to 2010
$15.8M
Huntington's Disease Repeat Instability and PathogenesisR01NS049206 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI VANESSA C WHEELER · 2005 to 2026
$10.0M
Disease-Modifying Genes in Huntington's DiseaseR01NS091161 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI JAMES F GUSELLA · 2015 to 2026
$7.2M
Therapeutic Potential of Base Editing Strategies to Convert CAG to CAA in Huntington's DiseaseR01NS119471 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI LEE, JONG-MIN · 2021 to 2025
$2.6M
Genetic modifiers of Predict-HD phenotypesU01NS082079 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI GUSELLA, JAMES F · 2013 to 2015
$2.6M
Genetic foundation for complete mutant allele-specific CRISPR in neurodegenerative diseasesR01NS105709 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI LEE, JONG-MIN · 2018 to 2022
$2.4M
Medical Research Council MR/X018253/1NINDS NIH HHS P50 NS016367NINDS NIH HHS R01 NS049206NINDS NIH HHS R01 NS091161NINDS NIH HHS R01 NS105709NINDS NIH HHS R01 NS119471NINDS NIH HHS U01 NS082079
6 · The paper itself

Abstract

Expansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington's disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inversely correlated with the size of the respective inherited expanded CAG repeat. Expanded CAG repeats are also somatically unstable in certain tissues, and age-at-onset of Huntington's disease corrected for individual

Indexed as

ATXN3genetic modificationHuntington’s diseasepolyglutamine diseaseshort tandem repeat

Identifiers

PMID38449714
PMCPMC10917446
OpenAlexW4391151015

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 OpenQuestion graph.