Evidence map›Paper›PMID 26340332›Full record

ReviewAmerican journal of human genetics2015

A Genetic-Pathophysiological Framework for Craniosynostosis.

Stephen R F Twigg, Andrew O M Wilkie

Open access · bronzeAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 154 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
154citing papers in PubMed, 3 pooled it
18.5field-weighted citation impact, top 1% 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

154 citing papers in PubMed, 3 syntheses or guidelines pooled it, 260 citations in OpenAlex.

  1. Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Pooled it
  2. The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023
    Pooled it
  3. Pooled it
  4. Article
  5. Embryodysgenesis of the Lids and Orbit.Eye (London, England) · 2026
    Review
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  15. Genetic architecture of craniofacial morphogenesis: roles ofFrontiers in cell and developmental biology · 2026
    Review
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  19. Review
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94 more citing papers are in PubMed but not listed here.

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.

Stephen R F TwiggWeatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.
Andrew O M WilkieWeatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK. Electronic address: andrew.wilkie@imm.ox.ac.uk.
John Radcliffe Hospital · GBUniversity of Oxford · GB

Funding

Department of HealthWellcome Trust 102731Wellcome Trust 102731/Z/13/Z
6 · The paper itself

Abstract

Craniosynostosis, the premature fusion of one or more cranial sutures of the skull, provides a paradigm for investigating the interplay of genetic and environmental factors leading to malformation. Over the past 20 years molecular genetic techniques have provided a new approach to dissect the underlying causes; success has mostly come from investigation of clinical samples, and recent advances in high-throughput DNA sequencing have dramatically enhanced the study of the human as the preferred "model organism." In parallel, however, we need a pathogenetic classification to describe the pathways and processes that lead to cranial suture fusion. Given the prenatal onset of most craniosynostosis, investigation of mechanisms requires more conventional model organisms; principally the mouse, because of similarities in cranial suture development. We present a framework for classifying genetic causes of craniosynostosis based on current understanding of cranial suture biology and molecular and developmental pathogenesis. Of note, few pathologies result from complete loss of gene function. Instead, biochemical mechanisms involving haploinsufficiency, dominant gain-of-function and recessive hypomorphic mutations, and an unusual X-linked cellular interference process have all been implicated. Although few of the genes involved could have been predicted based on expression patterns alone (because the genes play much wider roles in embryonic development or cellular homeostasis), we argue that they fit into a limited number of functional modules active at different stages of cranial suture development. This provides a useful approach both when defining the potential role of new candidate genes in craniosynostosis and, potentially, for devising pharmacological approaches to therapy.

Indexed as

Models, BiologicalPhenotypeAnimalsBrainCell LineageCranial SuturesCraniosynostosesHumansMiceOsteogenesisRisk Factors

Identifiers

PMID26340332
PMCPMC4564941
OpenAlexW1929611763

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.