Evidence map›Paper›PMID 30032985›Full record

ArticleAmerican journal of human genetics2018

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

Eveline Boudin, Tjeerd R de Jong, Tim C R Prickett, Bruno Lapauw, Kaatje Toye, Viviane Van Hoof, Ilse Luyckx, Aline Verstraeten, Hugo S A Heymans, Eelco Dulfer and 10 more

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

Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
2.9field-weighted citation impact, top 8% 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

22 citing papers in PubMed, 39 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. The genetic basis of human height.Nature reviews. Genetics · 2025
    Review
  5. C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025
    Article
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  9. Review
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  14. Role of Cardiac Natriuretic Peptides in Heart Structure and Function.International journal of molecular sciences · 2022
    Review
  15. Review
  16. Article
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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

20 authors at 11 institutions in 4 countries.

Eveline BoudinCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium.
Tjeerd R de JongDepartment of Plastic and Reconstructive Surgery and Hand Surgery, Isala Clinics, 8025 AB Zwolle, the Netherlands.
Tim C R PrickettDepartment of Medicine, University of Otago, Christchurch 8011, New Zealand.
Bruno LapauwDepartment of Endocrinology and Unit for Osteoporosis and Metabolic Bone Diseases, Ghent University Hospital, 9000 Ghent, Belgium.
Kaatje ToyeDepartment of Endocrinology and Unit for Osteoporosis and Metabolic Bone Diseases, Ghent University Hospital, 9000 Ghent, Belgium.
Viviane Van HoofDepartment of Clinical Chemistry, Antwerp University Hospital, 2650 Edegem, Belgium.
Ilse LuyckxCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium.
Aline VerstraetenCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium.
Hugo S A HeymansDepartment of Pediatrics, Emma's Children's Hospital - Academic Medical Centre, 1105 AZ Amsterdam, the Netherlands.
Eelco DulferDepartment of Medical Genetics, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
Lut Van LaerCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium.
Ian R BerryLeeds Genetics Laboratory, St James's University Hospital, Leeds LS7 4SA, UK.
Angus DobbieYorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK.
Ed BlairOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
Bart LoeysCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium.
Eric A EspinerDepartment of Medicine, University of Otago, Christchurch 8011, New Zealand.
Jan M WitDepartment of Pediatrics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Wim Van HulCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium.
Peter HouptDepartment of Plastic and Reconstructive Surgery and Hand Surgery, Isala Clinics, 8025 AB Zwolle, the Netherlands.
Geert R MortierCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Edegem, Belgium. Electronic address: geert.mortier@uantwerpen.be.
University of Antwerp · BEGhent University Hospital · BEIsala · NLUniversity of Otago · NZAntwerp University Hospital · BEChapel Allerton Hospital · GBEmma Kinderziekenhuis · NLLeiden University Medical Center · NLOxford University Hospitals NHS Trust · GBSt James's University Hospital · GBUniversity Medical Center Groningen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The natriuretic peptide signaling pathway has been implicated in many cellular processes, including endochondral ossification and bone growth. More precisely, different mutations in the NPR-B receptor and the CNP ligand have been identified in individuals with either short or tall stature. In this study we show that the NPR-C receptor (encoded by NPR3) is also important for the regulation of linear bone growth. We report four individuals, originating from three different families, with a phenotype characterized by tall stature, long digits, and extra epiphyses in the hands and feet. In addition, aortic dilatation was observed in two of these families. In each affected individual, we identified a bi-allelic loss-of-function mutation in NPR3. The missense mutations (c.442T>C [p.Ser148Pro] and c.1088A>T [p.Asp363Val]) resulted in intracellular retention of the NPR-C receptor and absent localization on the plasma membrane, whereas the nonsense mutation (c.1524delC [p.Tyr508

Indexed as

AdolescentBone DevelopmentCardiovascular AbnormalitiesChildConnective TissueCyclic GMPFemaleHumansLoss of HeterozygosityMaleMutationNatriuretic Peptide, C-TypeSignal TransductionCyclic GMPNatriuretic Peptide, C-Typeaortic dilatationextra epiphysesnatriuretic peptide signalingNPR3tall stature

Identifiers

PMID30032985
PMCPMC6080727
OpenAlexW2883132299

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.