Evidence map›Paper›PMID 38948755›Full record

ArticlebioRxiv : the preprint server for biology2024

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.

Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium, Jong-Min Lee, Zachariah L McLean, Kevin Correia, Jun Wan Shin, Sujin Lee, Jae-Hyun Jang, Yukyeong Lee, Kyung-Hee Kim, Doo Eun Choi and 29 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

39 authors.

Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium
Zachariah L McLean
Kevin Correia
Jun Wan Shin
Sujin Lee
Jae-Hyun Jang
Yukyeong Lee
Kyung-Hee Kim
Doo Eun Choi
Jeffrey D Long
Diane Lucente
Ihn Sik Seong
Ricardo Mouro PintoORCID 0000-0001-6744-2805
James V Giordano
Jayalakshmi S Mysore
Jacqueline Siciliano
Emanuela Elezi
Jayla Ruliera
Tammy Gillis
Vanessa C WheelerORCID 0009-0004-8259-5796
Marcy E MacDonald
James F Gusella
Anna Gatseva
Marc Ciosi
Vilija Lomeikaite
Hossameldin Loay
Darren G MoncktonORCID 0000-0002-8298-8264
Christopher Wills
Thomas H Massey
Lesley Jones
Seung Kwak
Michael Orth
G Bernhard Landwehrmeyer
Jane S Paulsen
E Ray Dorsey
Richard H Myers

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
Somatic Repeat Expansions as a Therapeutic Target for Trinucleotide Repeat DisordersR01NS126420 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI Ricardo Mouro Pinto · 2022 to 2026
$2.0M
NINDS NIH HHS P50 NS016367NINDS NIH HHS R01 NS049206NINDS NIH HHS R01 NS091161NINDS NIH HHS R01 NS105709NINDS NIH HHS R01 NS119471NINDS NIH HHS R01 NS126420NINDS NIH HHS U01 NS082079
6 · The paper itself

Abstract

Huntington's disease (HD), due to expansion of a CAG repeat in

Identifiers

PMID38948755
PMCPMC11212857

What OpenQuestion 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 OpenQuestion graph.