Evidence map›Paper›PMID 36759768›Full record

ArticleBMC genomics2023

Morphometric analysis of the size-adjusted linear dimensions of the skull landmarks revealed craniofacial dysmorphology in Mid1-cKO mice.

Yaohui Liang, Chao Song, Jieli Li, Ting Li, Chunlei Zhang, Yi Zou

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2023. 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
0.6field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Yaohui Liang *The Key Laboratory of Virology of Guangzhou, Jinan University, Guangzhou, China.
Chao Song *The Key Laboratory of Virology of Guangzhou, Jinan University, Guangzhou, China.
Jieli LiThe Key Laboratory of Virology of Guangzhou, Jinan University, Guangzhou, China.
Ting LiThe Key Laboratory of Virology of Guangzhou, Jinan University, Guangzhou, China.
Chunlei ZhangFirst Affiliated Hospital, Jinan University, Guangzhou, 510632, China.
Yi ZouThe Key Laboratory of Virology of Guangzhou, Jinan University, Guangzhou, China. tyizou@jnu.edu.cn.ORCID http://orcid.org/0000-0001-7231-9270
Jinan University · CNFirst Affiliated Hospital of Jinan University · CN

Funding

Department of Natural Resources of Guangdong Province GDNRC [2020]035Natural Science foundation of Guangdong 2020A1515010160Natural Science foundation of Guangdong 2021A1515010750
6 · The paper itself

Abstract

backgroundThe early craniofacial development is a highly coordinated process involving neural crest cell migration, proliferation, epithelial apoptosis, and epithelial-mesenchymal transition (EMT). Both genetic defects and environmental factors can affect these processes and result in orofacial clefts. Mutations in MID1 gene cause X-linked Opitz Syndrome (OS), which is a congenital malformation characterized by craniofacial defects including cleft lip/palate (CLP). Previous studies demonstrated impaired neurological structure and function in Mid1 knockout mice, while no CLP was observed. However, given the highly variable severities of the facial manifestations observed in OS patients within the same family carrying identical genetic defects, subtle craniofacial malformations in Mid1 knockout mice could be overlooked in these studies. Therefore, we propose that a detailed morphometric analysis should be necessary to reveal mild craniofacial dysmorphologies that reflect the similar developmental defects seen in OS patients.

resultsIn this research, morphometric study of the P0 male Mid1-cKO mice were performed using Procrustes superimposition as well as EMDA analysis of the size-adjusted three-dimensional coordinates of 105 skull landmarks, which were collected on the bone surface reconstructed using microcomputed tomographic images. Our results revealed the craniofacial deformation such as the increased dimension of the frontal and nasal bone in Mid1-cKO mice, in line with the most prominent facial features such as hypertelorism, prominent forehead, broad and/or high nasal bridge seen in OS patients.

conclusionWhile been extensively used in evolutionary biology and anthropology in the last decades, geometric morphometric analysis was much less used in developmental biology. Given the high interspecies variances in facial anatomy, the work presented in this research suggested the advantages of morphometric analysis in characterizing animal models of craniofacial developmental defects to reveal phenotypic variations and the underlining pathogenesis.

Indexed as

Cleft LipCleft PalateAnimalsEsophagusGenetic Diseases, X-LinkedHypertelorismHypospadiasMaleMiceMice, KnockoutSkullUbiquitin-Protein LigasesMid1 protein, mouseUbiquitin-Protein LigasesCraniofacial anomaliesEMDAMID1MorphometricsOpitz syndromeProcrustes superimposition

Identifiers

PMID36759768
PMCPMC9912615
OpenAlexW4319733480

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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.