Evidence map›Paper›PMID 39748245›Full record

ArticleBMC molecular and cell biology2025

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.

Mengnan Chen, Dongmei Sun, Siu-Pok Yee, Zhaoyang Yuan, Li Lin, Bing Cui, Yi Wang, Chao Liu, Peihong Liu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC molecular and cell biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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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

1 citing paper in PubMed.

  1. 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

9 authors.

Mengnan Chen *Department of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Dongmei Sun *Department of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Siu-Pok Yee *Department of Cell Biology, Health Science Center, University of Connecticut, Farmington, 06030, USA.
Zhaoyang YuanDepartment of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Li LinDepartment of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Bing CuiDepartment of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Yi WangDepartment of Prosthodontics, School of Stomatology, Dalian Medical University, Dalian, 116044, China.
Chao LiuDepartment of Oral Pathology, School of Stomatology, Dalian Medical University, Dalian, 116044, China. cliu@dmu.edu.cn.
Peihong LiuDepartment of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China. xiaopei76@hrbmu.edu.cn.

Funding

Fund of Harbin Science and Technology Bureau 2022ZCZJNS055Fund of the First Affiliated Hospital of Harbin Medical University 2016B020Natural Science Foundation of Heilongjiang Province H2017030
6 · The paper itself

Abstract

backgroundInactivation or mutations of FAM20C causes human Raine Syndrome, which manifests as lethal osteosclerosis bone dysplasia or non-lethal hypophosphatemia rickets. However, it is only hypophosphatemia rickets that was reported in the mice with Fam20c deletion or mutations. To further investigate the local and global impacts of Fam20c mutation, we constructed a knock-in allele carrying Fam20c mutation (D446N) found in the non-lethal Raine Syndrome. The Fam20c

resultsThe radiology, serum biochemistry and immunohistochemistry indicated that all conditional and most conventional Fam20c

conclusionThis finding also implicated that the osteosclerotic features resulting from Fam20c deficiency could be a semblance on the basis of rickets, which is most likely triggered by the alterations in the systems other than skeleton.

Indexed as

Disease Models, AnimalExtracellular Matrix ProteinsFibroblast Growth Factor-23Gene Knock-In TechniquesOsteosclerosisAbnormalities, MultipleAnemia, Dyserythropoietic, CongenitalAnimalsCalcium-Binding ProteinsCleft PalateExophthalmosFamilial Hypophosphatemic RicketsFibroblast Growth FactorsHumansMaleMiceCalcium-Binding ProteinsDmp1 protein, mouseExtracellular Matrix ProteinsFAM20C protein, mouseFGF23 protein, humanFgf23 protein, mouseFibroblast Growth Factor-23Fibroblast Growth FactorsBiomineralizationFAM20CHypophosphataemic ricketsOsteosclerosisRaine syndrome

Identifiers

PMID39748245
PMCPMC11697891

What Socratic holds

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Registered trials

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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 Socratic graph.