Evidence map›Paper›PMID 27081558›Full record

ArticleHuman genome variation2015

Phenotypic differences of patients with fibrodysplasia ossificans progressive due to p.Arg258Ser variants of ACVR1.

Yasuo Nakahara, Ryuyo Suzuki, Takenobu Katagiri, Junya Toguchida, Nobuhiko Haga

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PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Review
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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

5 authors.

Yasuo NakaharaDepartment of Rehabilitation Medicine, The University of Tokyo Hospital , Tokyo, Japan.
Ryuyo SuzukiDepartment of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine , Tokyo, Japan.
Takenobu KatagiriDivision of Pathophysiology, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan; Project of Clinical and Basic Research for FOP at Saitama Medical University, Saitama, Japan.
Junya ToguchidaDepartment of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan; Department of Tissue Regeneration, Institute for Frontier Medical Sciences, Kyoto University, Kyoto, Japan; Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Nobuhiko HagaDepartment of Rehabilitation Medicine, The University of Tokyo Hospital , Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare, congenital disorder caused by heterozygous mutation of the bone morphogenetic protein type I receptor ACVR1. Various forms of atypical FOP have recently been identified, and a recurrent mutation, ACVR1 (p.Arg258Ser) was reported. We encountered a 17-year-old Japanese female patient with sporadic occurrence of FOP. At the age of 7 years, radiological examination revealed progressive heterotopic ossification and cervical spine malformations. Although great toe malformation was not observed, we diagnosed her as having FOP. Then, ACVR1 was analyzed and a recurrent mutation of p.Arg258Ser was identified. We noticed that there may be phenotypic differences between c.774G>T and c.774G>C, which lead to the same amino-acid change, p.Arg258Ser. Genotype-phenotype correlation was discussed with the review of the previous reports.

Identifiers

PMID27081558
PMCPMC4785553

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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.