Evidence map›Paper›PMID 27589347›Full record

ReviewHormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme2016

Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.

O Nilsson, N Isoherranen, M H Guo, J C Lui, Y H Jee, I Guttmann-Bauman, C Acerini, W Lee, R Allikmets, J A Yanovski and 2 more

Open access · greenAbstract readCase ReportsReview
In one paragraph

Review in Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme, 2016. 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
0.9field-weighted citation impact, top 23% 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, 21 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. CRABPs AlterNutrients · 2022
    Article
  5. Knockout of Cyp26a1 and Cyp26b1 during postnatal life causes reduced lifespan, dermatitis, splenomegaly, and systemic inflammation in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020
    Article
  6. Role of carotenoids and retinoids during heart development.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020
    Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Article
  12. Review
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  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

12 authors at 9 institutions in 3 countries.

O NilssonEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
N IsoherranenDepartment of Pharmaceutics School of Pharmacy, University of Washington, Seattle, WA, USA.
M H GuoProgram in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.
J C LuiEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Y H JeeEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
I Guttmann-BaumanHarold Schnitzer Diabetes Health Center, Oregon Health and Science University, Portland, OR, USA.
C AceriniDepartment of Paediatrics, University of Cambridge, Cambridge, UK.
W LeeDepartment of Ophthalmology, Columbia University, New York, NY, USA.
R AllikmetsDepartment of Ophthalmology, Columbia University, New York, NY, USA.
J A YanovskiEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
A DauberCincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
J BaronEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Columbia University · USEunice Kennedy Shriver National Institute of Child Health and Human Development · USNational Institutes of Health · USBroad Institute · USCincinnati Children's Hospital Medical Center · USKarolinska Institutet · SEOregon Health & Science University · USUniversity of Cambridge · GBUniversity of Washington · US

Funding

Regulation Of Childhood GrowthZIAHD000640 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI BARON, JEFFREY · 2009 to 2025
$24.4M
REGULATION OF SKELETAL GROWTHZ01HD000640 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI BARON, JEFFREY · 1996 to 2008
$4.7M
Physiology, Psychology, and Genetics of ObesityZ01HD000641 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI YANOVSKI, JACK A. · 1996 to 2008
$4.6M
Mechanisms of Regulation of Retinoic Acid HomeostasisR01GM111772 · NIGMS · UNIVERSITY OF WASHINGTON · PI ISOHERRANEN, NINA · 2014 to 2021
$3.0M
Rare Genetic Variants as Novel Causes of Idopathic or Syndromic Short StatureK23HD073351 · NICHD · CINCINNATI CHILDRENS HOSP MED CTR · PI DAUBER, ANDREW NAHUM · 2012 to 2016
$664k
Intramural NIH HHS Z01 HD000640Intramural NIH HHS Z01 HD000641NICHD NIH HHS K23 HD073351NIGMS NIH HHS R01 GM111772
6 · The paper itself

Abstract

Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, and light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in CYP26B1, one of the major RA-metabolizing enzymes, cause advanced bone age, premature epiphyseal fusion, and craniosynostosis. In this paper, a patient with markedly accelerated skeletal and dental development, retinal scarring, and autism-spectrum disease is presented and the role of retinoic acid in longitudinal bone growth and skeletal maturation is reviewed. Genetic studies were carried out using SNP array and exome sequencing. RA isomers were measured in the patient, family members, and in 18 age-matched healthy children using high-performance liquid chromatography coupled to tandem mass spectrometry. A genomic SNP array identified a novel 8.3 megabase microdeletion on chromosome 10q23.2-23.33. The 79 deleted genes included

Indexed as

Bone Diseases, DevelopmentalChildChromosomes, Human, Pair 10Cytochrome P450 Family 26Gene Expression Regulation, EnzymologicHumansMalePhenotypePolymorphism, Single NucleotideRetinoic Acid 4-HydroxylaseTretinoinCYP26A1 protein, humanCYP26C1 protein, humanCytochrome P450 Family 26Retinoic Acid 4-HydroxylaseTretinoin

Identifiers

PMID27589347
PMCPMC5534175
OpenAlexW2508182468

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.