Evidence map›Paper›PMID 28172997›Full record

ArticleHuman molecular genetics2016

Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome.

Samantha D McElyea, John M Starbuck, Danika M Tumbleson-Brink, Emily Harrington, Joshua D Blazek, Ahmed Ghoneima, Katherine Kula, Randall J Roper

Open access · hybridAbstract read
In one paragraph

Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
4.2field-weighted citation impact, top 6% 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

35 citing papers in PubMed, 43 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Sex specific emergence of trisomicbioRxiv : the preprint server for biology · 2024
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  11. Skeletal health inFrontiers in neuroscience · 2024
    Review
  12. Article
  13. Article
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  15. Article
  16. Review
  17. Review
  18. MultimodalFrontiers in medicine · 2022
    Article
  19. Article
  20. Genes · 2021
    Review
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

8 authors at 3 institutions in 1 country.

Samantha D McElyeaDepartment of Biology, Indiana University-Purdue University Indianapolis, 723 W. Michigan Street, SL306, Indianapolis, IN 46202, USA.
John M StarbuckDepartment of Orthodontics and Facial Genetics, Indiana University School of Dentistry, 1121 W. Michigan Street, DS 250B, Indianapolis, IN 46202, USA.
Danika M Tumbleson-BrinkDepartment of Biology, Indiana University-Purdue University Indianapolis, 723 W. Michigan Street, SL306, Indianapolis, IN 46202, USA.
Emily HarringtonDepartment of Biology, Indiana University-Purdue University Indianapolis, 723 W. Michigan Street, SL306, Indianapolis, IN 46202, USA.
Joshua D BlazekDepartment of Biology, Indiana University-Purdue University Indianapolis, 723 W. Michigan Street, SL306, Indianapolis, IN 46202, USA.
Ahmed GhoneimaDepartment of Orthodontics and Facial Genetics, Indiana University School of Dentistry, 1121 W. Michigan Street, DS 250B, Indianapolis, IN 46202, USA.
Katherine KulaDepartment of Orthodontics and Facial Genetics, Indiana University School of Dentistry, 1121 W. Michigan Street, DS 250B, Indianapolis, IN 46202, USA.
Randall J RoperDepartment of Biology, Indiana University-Purdue University Indianapolis, 723 W. Michigan Street, SL306, Indianapolis, IN 46202, USA.
Indiana University – Purdue University Indianapolis · USUniversity of Indianapolis · USUniversity of Central Florida · US

Funding

Indiana Clinical and Translational Sciences InstituteUL1TR001108 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI DENNE, SCOTT C., SHEKHAR, ANANTHA · 2013 to 2017
$23.3M
Genetic basis of the neural crest deficit in Down syndrome miceR15DE021034 · NIDCR · INDIANA UNIVERSITY INDIANAPOLIS · PI ROPER, RANDALL J · 2010 to 2010
$380k
NCATS NIH HHS UL1 TR001108NIDCR NIH HHS R15 DE021034
6 · The paper itself

Abstract

Trisomy 21 (Ts21) affects craniofacial precursors in individuals with Down syndrome (DS). The resultant craniofacial features in all individuals with Ts21 may significantly affect breathing, eating and speaking. Using mouse models of DS, we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural crest cell (NCC) craniofacial precursors early in development. Hypothetically, three copies of Dyrk1a (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), a trisomic gene found in most humans with DS and mouse models of DS, may significantly affect craniofacial structure. We hypothesized that we could improve DS-related craniofacial abnormalities in mouse models using a Dyrk1a inhibitor or by normalizing Dyrk1a gene dosage. In vitro and in vivo treatment with Epigallocatechin-3-gallate (EGCG), a Dyrk1a inhibitor, modulated trisomic NCC deficiencies at embryonic time points. Furthermore, prenatal EGCG treatment normalized some craniofacial phenotypes, including cranial vault in adult Ts65Dn mice. Normalization of Dyrk1a copy number in an otherwise trisomic Ts65Dn mice normalized many dimensions of the cranial vault, but did not correct all craniofacial anatomy. These data underscore the complexity of the gene–phenotype relationship in trisomy and suggest that changes in Dyrk1a expression play an important role in morphogenesis and growth of the cranial vault. These results suggest that a temporally specific prenatal therapy may be an effective way to ameliorate some craniofacial anatomical changes associated with DS.

Indexed as

AnimalsCatechinCraniofacial AbnormalitiesDisease Models, AnimalDown SyndromeDyrk KinasesFemaleGene DosageMicePhenotypePhosphorylationPregnancyProtein Serine-Threonine KinasesProtein-Tyrosine KinasesCatechinDyrk Kinasesepigallocatechin gallateProtein Serine-Threonine KinasesProtein-Tyrosine Kinases

Identifiers

PMID28172997
PMCPMC6049609
OpenAlexW2509374127

What OpenQuestion holds

Textmetadata
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.