Evidence map›Paper›PMID 34946811›Full record

ArticleGenes2021

Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.

Philipp Vick, Birgit Eberle, Daniela Choukair, Birgit Weiss, Ralph Roeth, Isabelle Schneider, Nagarajan Paramasivam, Markus Bettendorf, Gudrun A Rappold

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

Article in Genes, 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
0.3field-weighted citation impact, top 39% 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, 3 citations in OpenAlex.

  1. Review
  2. Novel Missense Variants inInternational journal of molecular sciences · 2023
    Article
  3. 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

9 authors at 3 institutions in 1 country.

Philipp VickDepartment of Zoology, University of Hohenheim, 70599 Stuttgart, Germany.ORCID 0000-0002-1430-4561
Birgit EberleDepartment of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University Heidelberg, 69120 Heidelberg, Germany.
Daniela ChoukairDivision of Paediatric Endocrinology, Children's Hospital, Ruprecht-Karls-University Heidelberg, 69120 Heidelberg, Germany.
Birgit WeissDepartment of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University Heidelberg, 69120 Heidelberg, Germany.
Ralph RoethDepartment of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University Heidelberg, 69120 Heidelberg, Germany.
Isabelle SchneiderDepartment of Zoology, University of Hohenheim, 70599 Stuttgart, Germany.
Nagarajan ParamasivamComputational Oncology Group, Molecular Diagnostics Program at the National Center for Tumor Diseases (NCT) and DKFZ (German Cancer Research Center), 69120 Heidelberg, Germany.
Markus BettendorfDivision of Paediatric Endocrinology, Children's Hospital, Ruprecht-Karls-University Heidelberg, 69120 Heidelberg, Germany.
Gudrun A RappoldDepartment of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University Heidelberg, 69120 Heidelberg, Germany.
Heidelberg University · DEUniversity of Hohenheim · DEGerman Cancer Research Center · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital primary hypothyroidism (CH; OMIM 218700) is characterized by an impaired thyroid development, or dyshormonogenesis, and can lead to intellectual disability and growth retardation if untreated. Most of the children with congenital hypothyroidism present thyroid dysgenesis, a developmental anomaly of the thyroid. Various genes have been associated with thyroid dysgenesis, but all known genes together can only explain a small number of cases. To identify novel genetic causes for congenital hypothyroidism, we performed trio whole-exome sequencing in an affected newborn and his unaffected parents. A predicted damaging de novo missense mutation was identified in the

Indexed as

AnimalsChildCongenital HypothyroidismExome SequencingGenetic Predisposition to DiseaseHumansKruppel-Like Transcription FactorsMaleMutation, MissenseRisk FactorsThyroid GlandXenopus laevisHIC1 protein, humanKruppel-Like Transcription Factorscongenital hypothyroidismPAX8thyroid anlagenthyroid dysgenesisXenopus laevisZBTB26

Identifiers

PMID34946811
PMCPMC8701029
OpenAlexW3216942325

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.