Evidence map›Paper›PMID 34194391›Full record

ArticleFrontiers in endocrinology2021

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.

Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A van Duyvenvoorde, Jeffrey Baron, Jan M Wit and 1 more

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

Article in Frontiers in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
  3. Identification of novel genes includingFrontiers in endocrinology · 2023
    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

11 authors at 2 institutions in 2 countries.

Birgit WeissDepartment of Human Molecular Genetics, Institute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.
Birgit EberleDepartment of Human Molecular Genetics, Institute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.
Ralph RoethDepartment of Human Molecular Genetics, Institute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.
Christiaan de BruinDepartment of Pediatrics, Leiden University Medical Center, Leiden, Netherlands.
Julian C LuiSection on Growth and Development, National Institute of Health, Bethesda, MD, United States.
Nagarajan ParamasivamComputational Oncology Group, Molecular Diagnostics Program at the National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), Heidelberg, Germany.
Katrin HinderhoferInstitute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.
Hermine A van DuyvenvoordeDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Jeffrey BaronSection on Growth and Development, National Institute of Health, Bethesda, MD, United States.
Jan M WitDepartment of Pediatrics, Leiden University Medical Center, Leiden, Netherlands.
Gudrun A RappoldDepartment of Human Molecular Genetics, Institute of Human Genetics, Ruprecht Karls University Heidelberg, Heidelberg, Germany.
Heidelberg University · DELeiden University Medical Center · NL

Funding

Regulation Of Childhood GrowthZIAHD000640 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI BARON, JEFFREY · 2009 to 2025
$24.4M
6 · The paper itself

Abstract

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated by Sanger sequencing in the trio and three other affected and one unaffected family members. Network analysis was carried out to assess links between the candidate genes, and the transcriptome of murine growth plate was analyzed by microarray as well as RNA Seq. Heterozygous gene variants in

Indexed as

AdolescentAnimalsBody HeightCarrier ProteinsCell Cycle ProteinsChildChild, PreschoolCytoskeletal ProteinsExomeFemaleGene ExpressionGrowth DisordersGrowth PlateHumansInfantInfant, NewbornCarrier ProteinsCell Cycle ProteinsCep104 protein, humanCROCC protein, humanCytoskeletal ProteinsNEK1 protein, humanNIMA-Related Kinase 1Thiosulfate SulfurtransferaseTOM1L2 protein, humanciliary genesexome sequencinggrowthgrowth platenon-syndromic tall statureoligogenic inheritance

Identifiers

PMID34194391
PMCPMC8237855
OpenAlexW3167259822

What OpenQuestion holds

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LicenceCC BY
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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.