Evidence map›Paper›PMID 42074549›Full record

ArticleGenes2026

Novel

Hyemin Yin, Soojin Jang, Hyuntae Kim, James P Simmer, Jan C-C Hu, Jung-Wook Kim

Abstract read
In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

6 authors.

Hyemin YinDepartment of Pediatric Dentistry, School of Dentistry & Dental Research Institute, Seoul National University, Seoul 03080, Republic of Korea.
Soojin JangDepartment of Pediatric Dentistry, School of Dentistry & Dental Research Institute, Seoul National University, Seoul 03080, Republic of Korea.
Hyuntae KimDepartment of Pediatric Dentistry, School of Dentistry & Dental Research Institute, Seoul National University, Seoul 03080, Republic of Korea.
James P SimmerDepartment of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI 48109, USA.ORCID 0000-0002-7192-6105
Jan C-C HuDepartment of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI 48109, USA.ORCID 0000-0002-9294-0248
Jung-Wook KimDepartment of Pediatric Dentistry, School of Dentistry & Dental Research Institute, Seoul National University, Seoul 03080, Republic of Korea.ORCID 0000-0002-9399-2197

Funding

Development and Validation of Novel Amelogenesis ModelsUH3DE028849 · NIDCR · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HU, JAN CHING CHUN · 2021 to 2022
$621k
Genetic Mechanisms of Amelogenesis ImperfectaR56DE015846 · NIDCR · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HU, JAN CHING CHUN · 2021 to 2021
$402k
NIDCR NIH HHS DE015846NIDCR NIH HHS R56 DE015846NIDCR NIH HHS UH3 DE028849School of Dentistry, Seoul National University no number
6 · The paper itself

Abstract

BACKGROUND/

objectivesAmelogenesis imperfecta (AI) is a heterogeneous group of rare hereditary conditions mainly affecting the quantity and/or quality of tooth enamel. Its phenotypic expression is diverse, as is the mutational spectrum of the AI-causing genes and mutations. Integrins are cell-surface receptors that mediate adhesion between cells and between cells and the extracellular matrix. Among these, mutations in integrin αvβ6 have been shown to cause AI; however, phenotypic variation exists between the knockout mouse model and human cases, as well as among different human AI families.

methodsWe recruited AI families and performed mutational analysis using whole exome sequencing.

resultsWe identified compound heterozygous

conclusionsThis report will not only expand the known mutational spectrum of the

Indexed as

Amelogenesis ImperfectaIntegrinsMutationAdultAnimalsAntigens, NeoplasmDNA Mutational AnalysisExome SequencingFemaleFrameshift MutationHumansMalePedigreeAntigens, Neoplasmintegrin alphavbeta6Integrinsamelogenesis imperfectahereditary enamel defectsITGB6recessive mutationwhole exome sequencing

Identifiers

PMID42074549
PMCPMC13115778

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.