Evidence map›Paper›PMID 21817922›Full record

ReviewJournal of pediatric orthopedics. Part B2012

Genetics of clubfoot.

Matthew B Dobbs, Christina A Gurnett

Abstract readReview
In one paragraph

Review in Journal of pediatric orthopedics. Part B, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 2 pooled it
3.5field-weighted citation impact, top 8% 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

48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 110 citations in OpenAlex.

  1. The molecular genetics of human appendicular skeleton.Molecular genetics and genomics : MGG · 2022
    Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. Association of Polymorphism in Locus of rs274503 (Genetic testing and molecular biomarkers · 2024
    Article
  9. Prenatal Counseling for Congenital Clubfoot.Journal of the Pediatric Orthopaedic Society of North America · 2024
    Review
  10. Article
  11. Article
  12. Article
  13. Human DNA Mutations and their Impact on Genetic Disorders.Recent patents on biotechnology · 2024
    Review
  14. Article
  15. Article
  16. Current Clubfoot Practices: POSNA Membership Survey.Children (Basel, Switzerland) · 2023
    Article
  17. Review
  18. Article
  19. Article
  20. Congenital talipes equinovarus: A literature review.Annals of medicine and surgery (2012) · 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

2 authors at 2 institutions in 1 country.

Matthew B DobbsDepartments of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri 63110, USA. dobbsm@wudosis.wustl.edu
Christina A Gurnett
Pediatrics and Genetics · USShriners Hospitals for Children - St. Louis · US

Funding

INTERDISCIPLINARY RESEARCH CAREERS IN WOMEN'S HEALTHK12HD001459 · NICHD · WASHINGTON UNIVERSITY · PI SEMENKOVICH, CLAY F. · 2000 to 2014
$6.9M
The Role of the Osteoblast Secretome in Bone FormationP30AR057235 · NIAMS · WASHINGTON UNIVERSITY · PI SWARNKAR, GAURAV · 2009 to 2018
$5.7M
NIAMS NIH HHS P30 AR057235NICHD NIH HHS K12 HD001459
6 · The paper itself

Abstract

Modern advances in genetics have allowed investigators to identify the complex etiology of clubfoot. It has become increasingly apparent that clubfoot is a heterogeneous disorder with a polygenetic threshold model explaining its inheritance patterns. Several recent genetic studies have identified a key developmental pathway, the PITX1-TBX4 transcriptional pathway, as being important in clubfoot etiology. Both PITX1 and TBX4 are uniquely expressed in the hindlimb, which helps explain the foot phenotype seen with mutations in these transcription factors. Future studies are needed to develop animal models to determine the exact mechanisms by which these genetic abnormalities cause clubfoot and to test other hypotheses of clubfoot pathogenesis.

Indexed as

Multifactorial InheritanceAnimalsClubfootDisease Models, AnimalFemaleGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseHumansMaleMutationPaired Box Transcription FactorsPolymorphism, Single NucleotideT-Box Domain Proteinshomeobox protein PITX1Paired Box Transcription FactorsT-Box Domain ProteinsTBX4 protein, human

Identifiers

PMID21817922
PMCPMC3229717
OpenAlexW1995607200

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.