Evidence map›Paper›PMID 40534843›Full record

ArticleFrontiers in genetics2025

Genotype-phenotype analysis and functional study of three novel

Yunyun Yuan, Ya Zhao, Lingqiang Meng, Shuyun Zheng, Hui Li, Jiabao Ren, Beibei Li, Chenyun Dou, Yan Hou, Wenjing Chen and 3 more

Abstract read
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Article in Frontiers in genetics, 2025. 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

13 authors.

Yunyun Yuan *Department of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Ya Zhao *Department of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Lingqiang MengDepartment of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Shuyun ZhengDepartment of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Hui LiDepartment of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Jiabao RenDepartment of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Beibei LiDepartment of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Chenyun DouDepartment of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Yan HouDepartment of Orthodntics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Wenjing ChenDepartment of Orthodntics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Jing ZhangDepartment of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Yulin DingDepartment of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.
Wenjing ShenHebei Key Laboratory of Stomatology, Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Tooth agenesis (TA) is a common craniofacial malformation in humans, characterized by the absence of one or more permanent teeth. Recent studies have identified the low-density lipoprotein receptor-related protein 6 ( Methods: Whole-exome sequencing (WES) was conducted on probands and their first-degree relatives to identify potential pathogenic variants. Identified LRP6 variants underwent computational pathogenicity prediction using integrated bioinformatics tools. Subcellular localization patterns were analyzed via immunofluorescence microscopy. Functional characterization of WNT/β-catenin signaling alterations was achieved through Western blot analysis and dual-luciferase reporter assays (TOP-Flash/FOP-Flash systems). Finally, genotype-phenotype correlations in Results: We identified three novel Discussion: We identified three novel

Indexed as

genotype-phenotypeLRP6non-syndromic oligodontiatooth agenesisβ-catenin

Identifiers

PMID40534843
PMCPMC12174413

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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.