Evidence map›Paper›PMID 32739295›Full record

ReviewMolecular and cellular endocrinology2020

Disorders caused by genetic defects associated with GH-dependent genes: PAPPA2 defects.

Masanobu Fujimoto, Melissa Andrew, Andrew Dauber

Open access · greenAbstract readReview
In one paragraph

Review in Molecular and cellular endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.4field-weighted citation impact, top 17% 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, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. Human mutation · 2026
    Article
  4. Review
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  7. [Discussion on the genetic mechanisms and efficacy of growth hormone therapy in children with idiopathic short stature].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024
    Review
  8. Article
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  11. Article
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  13. 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

3 authors at 2 institutions in 2 countries.

Masanobu FujimotoDivision of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Yonago, Tottori, 683-8504, Japan.
Melissa AndrewDivision of Endocrinology, Children's National Hospital, Washington, DC, 20010, USA.
Andrew DauberDivision of Endocrinology, Children's National Hospital, Washington, DC, 20010, USA; Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, 20052, USA. Electronic address: adauber@childrensnational.org.
Children's National · USTottori University · JP

Funding

A Multicenter Collaborative Clinical Study to Identify Novel Causes of Severe Pediatric Growth DisordersR01HD093622 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI DAUBER, ANDREW NAHUM · 2018 to 2022
$3.4M
NICHD NIH HHS R01 HD093622
6 · The paper itself

Abstract

Growth hormone (GH) and its mediator, insulin-like growth factor-1 (IGF-1), have long been recognized as central to human growth physiology. IGF-1 is known to complex with IGF binding proteins as well as with the acid labile subunit (ALS) in order to prolong its half-life in circulation. Factors regulating the bioavailability of IGF-1 (i.e. the balance between free and bound IGF-1) were less well understood. Recently, pregnancy-associated plasma protein-A2 (PAPP-A2) was discovered as a protease which specifically cleaves IGF-binding protein (IGFBP)-3 and -5. PAPP-A2 deficient patients present with characteristic findings including growth failure, elevated total IGF-1 and -2, IGFBPs, and ALS, but decreased percentage of free to total IGF-1. Additionally, patients with PAPP-A2 deficiency have impairments in glucose metabolism and bone mineral density (BMD). Treatment with recombinant human IGF-1 (rhIGF-1) improved height SD scores, growth velocity, body composition, and dysglycemia. Mouse models recapitulate many of the human findings of PAPP-A2 deficiency. This review summarizes the function of PAPP-A2 and its contribution to the GH-IGF axis through an examination of PAPP-A2 deficient patients and mouse models, thereby emphasizing the importance of the regulation of IGF-1 bioavailability in human growth.

Indexed as

AnimalsFemaleGenetic Diseases, InbornGrowth and DevelopmentHuman Growth HormoneHumansInsulin-Like Growth Factor IMaleMiceMutationPregnancy-Associated Plasma Protein-ASignal TransductionHuman Growth HormoneIGF1 protein, humanInsulin-Like Growth Factor IPAPPA2 protein, humanPAPPA2 protein, mousePregnancy-Associated Plasma Protein-AFree IGF-1GH–IGF axisGrowthIGF-1 bioavailabilityIGFBPsPAPP-A2

Identifiers

PMID32739295
PMCPMC7609568
OpenAlexW3046722642

What OpenQuestion holds

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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.