Evidence map›Paper›PMID 15931299›Full record

ReviewClinical medicine & research2003

Congenital and idiopathic scoliosis: clinical and genetic aspects.

Philip F Giampietro, Robert D Blank, Cathleen L Raggio, Sajid Merchant, F Stig Jacobsen, Thomas Faciszewski, Sanjay K Shukla, Anne R Greenlee, Cory Reynolds, David B Schowalter

Open access · bronzeAbstract readReview
In one paragraph

Review in Clinical medicine & research, 2003. 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
0.3field-weighted citation impact, top 42% 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, 137 citations in OpenAlex.

  1. Incidence of genitourinary anomalies in congenital scoliosis: systematic review and meta-analysis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2023
    Pooled it
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  3. Article
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  6. Advances in the diagnosis and treatment of congenital scoliosis.European journal of medical research · 2025
    Review
  7. Article
  8. Genetics and pathogenesis of scoliosis.North American Spine Society journal · 2024
    Article
  9. Fetal Scoliosis: Natural History and Outcomes.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews · 2024
    Article
  10. Article
  11. Ten-year trends in surgical management of 1207 congenital scoliosis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2023
    Article
  12. Article
  13. Cross-sectional analysis of associated anomalies and vertebral anomaly location in 1289 surgical congenital scoliosis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2021
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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

10 authors at 4 institutions in 1 country.

Philip F GiampietroMedical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA. giampietro.philip@marshfieldclinic.org
Robert D Blank
Cathleen L Raggio
Sajid Merchant
F Stig Jacobsen
Thomas Faciszewski
Sanjay K Shukla
Anne R Greenlee
Cory Reynolds
David B Schowalter
Marshfield Clinic · USMarshfield Clinic · USUniversity of Wisconsin–Madison · USHospital for Special Surgery · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveGenetic and environmental factors influencing spinal development in lower vertebrates are likely to play a role in the abnormalities associated with human congenital scoliosis (CS) and idiopathic scoliosis (IS). An overview of the molecular embryology of spinal development and the clinical and genetic aspects of CS and IS are presented. Utilizing synteny analysis of the mouse and human genetic databases, likely candidate genes for human CS and IS were identified.

designReview and synteny analysis.

methodsA search of the Mouse Genome Database was performed for "genes," "markers" and "phenotypes" in the categories Neurological and neuromuscular, Skeleton, and Tail and other appendages. The Online Mendelian Inheritance in Man was used to determine whether each mouse locus had a known human homologue. If so, the human homologue was assigned candidate gene status. Linkage maps of the chromosomes carrying loci with possibly relevant phenotypes, but without known human homologues, were examined and regions of documented synteny between the mouse and human genomes were identified.

resultsSearching the Mouse Genome Database by phenotypic category yielded 100 mutants of which 66 had been mapped. The descriptions of each of these 66 loci were retrieved to determine which among these included phenotypes of scoliosis, kinky or bent tails, other vertebral abnormalities, or disturbances of axial skeletal development. Forty-five loci of interest remained, and for 27 of these the comparative linkage maps of mouse and human were used to identify human syntenic regions to which plausible candidate genes had been mapped.

conclusionSynteny analysis of mouse candidate genes for CS and IS holds promise due to the close evolutionary relationship between mice and human beings. With the identification of additional genes in animal model systems that contribute to different stages of spine development, the list of candidate genes for CS and IS will continue to grow.

Indexed as

Databases, GeneticAnimalsHumansMiceScoliosisSpine

Identifiers

PMID15931299
PMCPMC1069035
OpenAlexW2113229261

What OpenQuestion holds

Textmetadata
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.