Evidence map›Paper›PMID 39009417›Full record

ReviewCold Spring Harbor perspectives in biology2025

Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities.

Tessa Arends, Danielle C Hamm, Silvère van der Maarel, Stephen J Tapscott

Abstract readReview
In one paragraph

Review in Cold Spring Harbor perspectives in biology, 2025. 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
–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

8 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. Review
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

4 authors.

Tessa Arends *Division of Human Biology, Fred Hutchinson Cancer Center, Seattle, Washington 98109, USA.
Danielle C Hamm *Division of Human Biology, Fred Hutchinson Cancer Center, Seattle, Washington 98109, USA.
Silvère van der MaarelDepartment of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, Netherlands.
Stephen J TapscottDivision of Human Biology, Fred Hutchinson Cancer Center, Seattle, Washington 98109, USA stapscot@fredhutch.org.ORCID 0000-0002-0319-0968

Funding

Wellstone Muscular Dystrophy Specialized Research Center (Seattle)P50AR065139 · NIAMS · UNIVERSITY OF WASHINGTON · PI JOEL R CHAMBERLAIN · 2018 to 2026
$15.9M
MYOTONIC DYSTROPHY LOCUS CONTROLR01AR045203 · NIAMS · FRED HUTCHINSON CANCER RESEARCH CENTER · PI TAPSCOTT, STEPHEN J · 1998 to 2025
$9.4M
Vector Research Resource CoreU54AR065139 · NIAMS · UNIVERSITY OF WASHINGTON · PI CHAMBERLAIN, JEFFREY S · 2014 to 2017
$6.3M
SMCHD1 Pathways as Candidate Targets for FSHDR01AR066248 · NIAMS · FRED HUTCHINSON CANCER RESEARCH CENTER · PI TAPSCOTT, STEPHEN J · 2014 to 2024
$4.5M
Reactivation of an early embryonic program in FSHD and cancerF32CA254805 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI HAMM, DANIELLE · 2020 to 2023
$204k
NCI NIH HHS F32 CA254805NIAMS NIH HHS P50 AR065139NIAMS NIH HHS R01 AR045203NIAMS NIH HHS R01 AR066248NIAMS NIH HHS U54 AR065139
6 · The paper itself

Abstract

Facioscapulohumeral dystrophy (FSHD) is caused by misexpression of the early embryonic transcription factor Double Homeobox Protein 4 (DUX4) in skeletal muscle. DUX4 is normally expressed at the 4-cell stage of the human embryo and initiates a portion of the first wave of embryonic gene expression that establishes the totipotent cells of the embryo. Following brief expression, the

Indexed as

Homeodomain ProteinsMuscular Dystrophy, FacioscapulohumeralAnimalsEpigenesis, GeneticGene SilencingHumansMuscle, SkeletalMutationDUX4L1 protein, humanHomeodomain Proteins

Identifiers

PMID39009417
PMCPMC11733064

What OpenQuestion holds

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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.