Evidence map›Paper›PMID 33652941›Full record

ArticleGenes2021

A Novel De Novo

Youn Jung Kim, Yejin Lee, Hong Zhang, Ji-Soo Song, Jan C-C Hu, James P Simmer, Jung-Wook Kim

Abstract readCase Reports
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 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Article
  2. Psychiatric Symptoms in Wilson's Disease-Consequence ofInternational journal of molecular sciences · 2024
    Review
  3. Article
  4. Article
  5. Frontiers in physiology · 2023
    Article
  6. 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

7 authors.

Youn Jung KimDepartment of Molecular Genetics & DRI, School of Dentistry, Seoul National University, Seoul 03080, Korea.
Yejin LeeDepartment of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Korea.
Hong ZhangDepartment of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI 48108, USA.ORCID 0000-0003-4558-9026
Ji-Soo SongDepartment of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Korea.
Jan C-C HuDepartment of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI 48108, USA.
James P SimmerDepartment of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI 48108, USA.
Jung-Wook KimDepartment of Molecular Genetics & DRI, School of Dentistry, Seoul National University, Seoul 03080, Korea.ORCID 0000-0002-9399-2197

Funding

Proteomics and Genetics of Enamel and DentinR01DE015846 · NIDCR · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HU, JAN CHING CHUN · 2004 to 2019
$5.7M
DSPP Function, Pathophysiology, and Genetic DiagnosisR01DE027675 · NIDCR · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SIMMER, JAMES P · 2018 to 2022
$2.4M
Genetic Mechanisms of Amelogenesis ImperfectaR56DE015846 · NIDCR · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HU, JAN CHING CHUN · 2021 to 2021
$402k
NIDCR NIH HHS R01 DE015846NIDCR NIH HHS R56 DE015846
6 · The paper itself

Abstract

Amelogenesis imperfecta (AI) is a heterogeneous group of rare genetic disorders affecting tooth enamel formation. Here we report an identification of a novel de novo missense mutation [c.817_818delinsAT, p.(Ala273Met)] in the

Indexed as

Mutation, MissenseAmelogenesis ImperfectaAzo CompoundsChildHumansKruppel-Like Transcription FactorsMaleNaphthalenesulfonatesSeverity of Illness IndexAzo CompoundsKruppel-Like Transcription FactorsNaphthalenesulfonatesNaphthol Blue Blackamelogenesis imperfectade novo mutationhereditary enamel defectsSP6whole exome sequencing

Identifiers

PMID33652941
PMCPMC7996877

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.