Evidence map›Paper›PMID 33217406›Full record

ArticleDevelopmental biology2021

Dysregulated BMP signaling through ACVR1 impairs digit joint development in fibrodysplasia ossificans progressiva (FOP).

O Will Towler, Sun H Peck, Frederick S Kaplan, Eileen M Shore

Open access · greenAbstract read
In one paragraph

Article in Developmental biology, 2021. 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
1.2field-weighted citation impact, top 19% 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, 18 citations in OpenAlex.

  1. Review
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  8. Review
  9. BMP signaling and skeletal development in fibrodysplasia ossificans progressiva (FOP).Developmental dynamics : an official publication of the American Association of Anatomists · 2022
    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 at 1 institution in 1 country.

O Will TowlerDepartment of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States; Center for Research in FOP & Related Disorders, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States.
Sun H PeckDepartment of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States; Center for Research in FOP & Related Disorders, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States.
Frederick S KaplanDepartment of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Perelman Center for Advanced Medicine, Philadelphia, PA 19104, United States; Center for Research in FOP & Related Disorders, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States.
Eileen M ShoreDepartment of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, 415 Curie Boulevard, Clinical Research Building, Philadelphia, PA 19104, United States; Center for Research in FOP & Related Disorders, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States. Electronic address: shore@pennmedicine.upenn.edu.
University of Pennsylvania · US

Funding

VIRAL VECTOR COREP30DK019525 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI MITCHELL A. LAZAR · 1986 to 2026
$48.3M
Overall: Resource-based Center for Musculoskeletal Disorders Research (Overall Application)P30AR069619 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI LOUIS J SOSLOWSKY · 2016 to 2026
$9.1M
The Role of Hyaluronic Acid Receptors in Tendon HealingP30AR050950 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI ELLIOTT, DAWN M · 2006 to 2015
$6.2M
Impaired BMP Signaling and Failed Bone Formation in Mucopolysaccharidosis VIIF32AR071298 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI PECK, SUN H · 2017 to 2018
$135k
NIAMS NIH HHS F32 AR071298NIAMS NIH HHS P30 AR050950NIAMS NIH HHS P30 AR069619NIDDK NIH HHS P30 DK019525
6 · The paper itself

Abstract

The development of joints in the mammalian skeleton depends on the precise regulation of multiple interacting signaling pathways including the bone morphogenetic protein (BMP) pathway, a key regulator of joint development, digit patterning, skeletal growth, and chondrogenesis. Mutations in the BMP receptor ACVR1 cause the rare genetic disease fibrodysplasia ossificans progressiva (FOP) in which extensive and progressive extra-skeletal bone forms in soft connective tissues after birth. These mutations, which enhance BMP-pSmad1/5 pathway activity to induce ectopic bone, also affect skeletal development. FOP can be diagnosed at birth by symmetric, characteristic malformations of the great toes (first digits) that are associated with decreased joint mobility, shortened digit length, and absent, fused, and/or malformed phalanges. To elucidate the role of ACVR1-mediated BMP signaling in digit skeletal development, we used an Acvr1

Indexed as

Activin Receptors, Type IAnimalsBody PatterningBone Morphogenetic ProteinsChondrogenesisDisease Models, AnimalForelimbGrowth Differentiation Factor 5Growth PlateHindlimbJointsMiceMyositis OssificansOsteogenesisSignal TransductionSmad1 ProteinActivin Receptors, Type IAcvr1 protein, mouseBone Morphogenetic ProteinsGdf5 protein, mouseGrowth Differentiation Factor 5Smad1 ProteinSmad1 protein, mouseSmad5 ProteinSmad5 protein, mouseACVR1Bone morphogenetic proteinChondrogenesisDigitFibrodysplasia ossificans progressivaJoint

Identifiers

PMID33217406
PMCPMC8035973
OpenAlexW3099683002

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.