Identification of novel susceptibility loci for non‐syndromic cleft lip with or without cleft palate

Ma, Lan; Lou, Shu; Miao, Ziyue; Yao, Siyue; Yu, Xin; Kan, Shiyi; Zhu, Guirong; Yang, Fan; Zhang, Chi; Zhang, Weibing; Wang, Meilin; Wang, Lin; Pan, Yongchu

doi:10.1111/jcmm.15878

Cited by 6 publications

(3 citation statements)

References 41 publications

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“…Mutagenesis was carried out using the adamts2 primers shown in Table S3. The zebrafish model was generated according to a previously described method [33]. A total of 400 zebrafish embryos were randomly and equally assigned to experimental group and control group during microinjection.…”

Section: Zebrafish Modelsmentioning

confidence: 99%

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case

Yao

Zhou

Vona

et al. 2022

IJMS

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Skeletal Class III malocclusion with maxillary deficiency is a severe maxillofacial disease with unclear pathogenic mechanisms. We recruited a Han Chinese family who was clinically diagnosed with skeletal Class III malocclusion and maxillary deficiency. Using whole exome sequencing, a missense variant in ADAMTS2 (NM_014244: c.3506G>T: p.G1169V) was identified and predicted as deleterious by in silico tools. We also found ADAMTS2 variants associated with deficient maxillary development in a cohort. ADAMTS2 expression in HEK293 cells showed significant decrease due to the variant, which was also consistent in dental pulp stem cells from the proband and a healthy control. In the adamts2-knockdown zebrafish model, the length and width of the ethmoid plate, as well as the length of the palatoquadrate became significantly shorter than the control group (p < 0.001), while there was no significant difference in the length and width of the mandible. The expression of Sox3, which was required in early embryonic craniofacial development, was significantly downregulated in the adamts2-knockdown zebrafish embryos. Bioinformatic and cellular studies showed that the decreased expression of ADAMTS2 may inhibit downstream ErbB signaling pathway transduction and restrain subsequent osteogenesis in human adult mesenchymal stromal cells. Collectively, these data showed that ADAMTS2 (c.3506G>T: p.G1169V) may confer susceptibility to risk of skeletal Class III malocclusion with maxillary deficiency.

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Section: Zebrafish Modelsmentioning

confidence: 99%

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case

Yao

Zhou

Vona

et al. 2022

IJMS

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“…Based on previous genome‐wide association study (GWAS) results, Ma et al performed an in‐depth analysis of a previously published Chinese GWAS cohort study with replication in an extra dbGaP trio and another in‐house Nanjing cohort and finally identified five novel significant association signals, including rs11119445 (3′‐ of SERTAD4 , p = 6.44 × 10 −14 ). In addition, sertad4 knockdown resulted in downregulation of sox2 in zebrafish models and caused a decreased body length, edema around the heart and mandibular deficiency, indicating the participation of strtad4 in NSCL/P (Ma et al, 2020).…”

Section: Craniomaxillofacial Developmental Disorders Of Zebrafishmentioning

confidence: 99%

“…It is regulated by a multitude of Kang Li, Liwen Fan, and Yu Tian contributed equally to this study. Periderm rupture Irf6 CRISPR mutant (Carroll et al, 2020;Desmyter et al, 2010;Liu et al, 2016) Reduced cranial size and abnormal cartilaginous elements dlx4 MO (Wu et al, 2015) Decreased body length and edema around the heart and mandibular deficiency sterad4 MO (Ma et al, 2020) Craniofacial defect kdm6a MO (Lindgren et al, 2013) Hypoplasia of the craniofacial cartilage elements prdm3 MO (Shull et al, 2020) A bent head and low set of ears pgap3 MO (Da'as et al, 2020) Cranial hemorrhaging and a hypoplastic roof of the mouth miR-140 MO (Eberhart et al, 2008) miR-133b; miR-23b; lncRNA ZFAS1…”

Section: Introductionmentioning

confidence: 99%

Application of zebrafish in the study of craniomaxillofacial developmental anomalies

Fan

Tian

et al. 2022

Birth Defects Research

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Craniomaxillofacial developmental anomalies are one of the most prevalent congenital defects worldwide and could result from any disruption of normal development processes, which is generally influenced by interactions between genes and the environment. Currently, with the advances in genetic screening strategies, an increasing number of novel variants and their roles in orofacial diseases have been explored. Zebrafish is recognized as a powerful animal model, and its homologous genes and similar oral structure and development process provide an ideal platform for studying the contributions of genetic and environmental factors to human craniofacial malformations. Here, we reviewed zebrafish models for the study of craniomaxillofacial developmental anomalies, such as human nonsyndromic cleft lip with or without an affected palate and jaw and tooth developmental anomalies. Due to its potential for gene expression and regulation research, zebrafish may provide new perspectives for understanding craniomaxillofacial diseaseand its treatment.

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Transcriptome‐wide association identifies KLC1 as a regulator of mitophagy in non‐syndromic cleft lip with or without palate

Lou,

Zhu,

Xing

et al. 2024

iMeta

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Identification of novel susceptibility loci for non‐syndromic cleft lip with or without cleft palate

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 6 publications

References 41 publications

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case

Application of zebrafish in the study of craniomaxillofacial developmental anomalies

Transcriptome‐wide association identifies KLC1 as a regulator of mitophagy in non‐syndromic cleft lip with or without palate

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