Evidence map›Paper›PMID 28418932›Full record

ArticleOncotarget2017

BMPR1B mutation causes Pierre Robin sequence.

Yongjia Yang, Jianying Yuan, Xu Yao, Rong Zhang, Hui Yang, Rui Zhao, Jihong Guo, Ke Jin, Haibo Mei, Yongqi Luo and 3 more

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 10% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.

  1. Pooled it
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  3. Review
  4. Review
  5. Two Retrotransposon Elements in Intron of PorcineLife (Basel, Switzerland) · 2022
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  9. SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
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  10. WidespreadGenome research · 2019
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  11. Article
  12. Cellular and molecular mechanisms of cleft palate development.Laryngoscope investigative otolaryngology · 2019
    Review
  13. Review
  14. Haploinsufficiency ofMolecular cytogenetics · 2017
    Article
  15. Article
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

13 authors at 2 institutions in 1 country.

Yongjia YangThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Jianying YuanThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Xu YaoThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Rong ZhangThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Hui YangThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Rui ZhaoThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Jihong GuoThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Ke JinThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Haibo MeiThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Yongqi LuoThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Liu ZhaoThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Ming TuThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Yimin ZhuThe Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.
Hunan Children's Hospital · CNUniversity of South China · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWe investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY: This study aims to determine the genetic cause of PRS.

resultsThe reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized that PRS in this family was caused by (i) haploinsufficiency for BMPR1B or (ii) a gain of function mechanism mediated by the BMPR1B-GRM4 fusion gene. In an unrelated family, we identified another BMPR1B-splicing mutation that co-segregated with PRS.

conclusionWe detected two BMPR1B mutations in two unrelated PRS families, suggesting that BMPR1B disruption is probably a cause of human PRS.

methodsGTG banding, comparative genomic hybridization, whole-genome sequencing, and Sanger sequencing were performed to identify the gene causing PRS.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseMutationAdolescentAdultBone Morphogenetic Protein Receptors, Type IChildChild, PreschoolComparative Genomic HybridizationFemaleGenotypeHumansInfantKaryotypeMaleMiddle AgedBMPR1B protein, humanBone Morphogenetic Protein Receptors, Type IBMPR1BBMP signallingChromosome Sectioncleft palategene fusionPierre Robin sequence

Identifiers

PMID28418932
PMCPMC5432222
OpenAlexW2603014344

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.