Evidence map›Paper›PMID 26542481›Full record

ReviewLancet (London, England)2016

Osteogenesis imperfecta.

Antonella Forlino, Joan C Marini

Open access · greenAbstract readReview
In one paragraph

Review in Lancet (London, England), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 500 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
500citing papers in PubMed, 3 pooled it
53.1field-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

500 citing papers in PubMed, 3 syntheses or guidelines pooled it, 902 citations in OpenAlex.

  1. Posterior spinal fusion with pedicle screw-based constructs in osteogenesis imperfecta: a systematic review of surgical and radiographic outcomes.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 · 2026
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  12. Analysis of Genetic Factors in a Family With Short Stature.Molecular genetics & genomic medicine · 2026
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440 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 2 countries.

Antonella ForlinoDepartment of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.
Joan C MariniBone and Extracellular Matrix Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address: oidoc@helix.nih.gov.
Eunice Kennedy Shriver National Institute of Child Health and Human Development · USUniversity of Pavia · IT

Funding

Heritable Disorders Of Connective TissueZIAHD000408 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MARINI, JOAN C · 2009 to 2023
$13.4M
PATHOPHYSIOLOGY AND TREATMENT OF HUMAN GENETIC DISEASESZ01HD000408 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MARINI, JOAN C · 1985 to 2008
$1.8M
Intramural NIH HHS Z01 HD000408
6 · The paper itself

Abstract

Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology and have contributed to an improved understanding of normal bone development. Defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, have been described in patients with osteogenesis imperfecta. Knowledge of the specific molecular basis of each form of the disorder will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches. In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them into five groups on the basis of the metabolic pathway compromised, specifically those related to collagen synthesis, structure, and processing; post-translational modification; folding and cross-linking; mineralisation; and osteoblast differentiation.

Indexed as

Bone Density Conservation AgentsCalcification, PhysiologicCell DifferentiationCollagen Type IDisease ManagementGenetic Predisposition to DiseaseHumansMutationOsteoblastsOsteogenesisOsteogenesis ImperfectaProtein Processing, Post-TranslationalBone Density Conservation AgentsCollagen Type I

Identifiers

PMID26542481
PMCPMC7384887
OpenAlexW4211060251

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.