Evidence map›Paper›PMID 29749689›Full record

ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2018

Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.

David Wotton, Kenichiro Taniguchi

Open access · bronzeAbstract read
In one paragraph

Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

13 citing papers in PubMed, 16 citations in OpenAlex.

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  10. NewMolecular syndromology · 2021
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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

2 authors at 2 institutions in 1 country.

David WottonDepartment of Biochemistry and Molecular Genetics, Center for Cell Signaling, University of Virginia, Charlottesville, Virginia.ORCID 0000-0002-4652-5350
Kenichiro TaniguchiDepartment of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan.
University of Michigan · USUniversity of Virginia · US

Funding

Regulation of neural development by TGF beta family signalingR01NS077958 · NINDS · UNIVERSITY OF VIRGINIA · PI WOTTON, DAVID · 2012 to 2016
$1.7M
NINDS NIH HHS R01 NS077958
6 · The paper itself

Abstract

Holoprosencephaly (HPE) is a frequent human forebrain developmental disorder with both genetic and environmental causes. Multiple loci have been associated with HPE in humans, and potential causative genes at 14 of these loci have been identified. Although TGIF1 (originally TGIF, for Thymine Guanine-Interacting Factor) is among the most frequently screened genes in HPE patients, an understanding of how mutations in this gene contribute to the pathogenesis of HPE has remained elusive. However, mouse models based on loss of function of Tgif1, and the related Tgif2 gene, have shed some light on how human TGIF1 variants might cause HPE. Functional analyses of TGIF proteins and of TGIF1 single nucleotide variants from HPE patients, combined with analysis of forebrain development in mouse embryos lacking both Tgif1 and Tgif2, suggest that TGIFs regulate the transforming growth factor ß/Nodal signaling pathway and sonic hedgehog (SHH) signaling independently. Although, some developmental processes that are regulated by TGIFs may be Nodal-dependent, it appears that the forebrain patterning defects and HPE in Tgif mutant mouse embryos is primarily due to altered signaling via the Shh pathway.

Indexed as

Disease SusceptibilityAnimalsBody PatterningBrainCraniofacial AbnormalitiesDevelopmental DisabilitiesDisease Models, AnimalGene DeletionGene Expression RegulationGenetic VariationHoloprosencephalyHomeodomain ProteinsHumansMiceNodal ProteinOrganogenesisHomeodomain ProteinsNodal ProteinRepressor ProteinsTGIF1 protein, humandevelopmentforebrainholoprosencephalymouseNodalSHHTGIFTGIF1TGIF2

Identifiers

PMID29749689
PMCPMC6125192
OpenAlexW2801757245

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.