ArticleMolecular genetics & genomic medicine2016
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 35 citations in OpenAlex.
- Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.American journal of human genetics · 2026Article
- Multi-omics cluster defines the subtypes of CRC with distinct prognosis and tumor microenvironment.European journal of medical research · 2024Article
- Morphometric analysis of the size-adjusted linear dimensions of the skull landmarks revealed craniofacial dysmorphology in Mid1-cKO mice.BMC genomics · 2023Article
- It's a TRIM-endous view from the top: the varied roles of TRIpartite Motif proteins in brain development and disease.Frontiers in molecular neuroscience · 2023Review
- Exome sequencing improves genetic diagnosis of congenital orofacial clefts.Frontiers in genetics · 2023Article
- Article
- Tumor suppressor p53 cross-talks with TRIM family proteins.Genes & diseases · 2021Review
- TRIM21/Ro52 - Roles in Innate Immunity and Autoimmune Disease.Frontiers in immunology · 2021Review
- Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.American journal of medical genetics. Part A · 2020Article
- MID1 and MID2 regulate cell migration and epithelial-mesenchymal transition via modulating Wnt/β-catenin signaling.Annals of translational medicine · 2020Article
- Review
- A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.Molecular genetics & genomic medicine · 2020Article
- Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.European journal of medical genetics · 2019Article
- Emerging Roles of the TRIM E3 Ubiquitin Ligases MID1 and MID2 in Cytokinesis.Frontiers in physiology · 2019Review
- Two Novel PathogenicMolecular syndromology · 2017Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOpitz syndrome (OS) is a genetic disorder that affects mainly the development of midline structures, including the craniofacial region, embryonic heart, and urogenital system. The manifestations of X-linked OS are believed to be results of a malfunctioned gene, MID1, whose product has been shown to have ubiquitin E3 ligase activity and regulate the turnover of microtubular protein phosphatase 2Ac. MID2, a homolog of MID1, shares high structural and functional similarities with MID1. Identification of a missense mutation in MID2 in an Indian family causing overlapping phenotypes with OS provided the first evidence that MID2 might be involved in similar pathogenesis.
methodsThe clinic features and the genetic findings of all reported X-linked OS were collectively summarized in this research. Real-time RT-PCR and in situ hybridization were used in the expression studies of Mid1/Mid2 in mouse embryos.
resultsUp-to-date, 88 different mutations have been identified in MID1 and most mutations occurred on the conserved amino acids of MID1 and MID2. Expression studies using real-time RT-PCR implicated a tendency of a mutually repressive expression pattern between Mid1 and Mid2 in mouse embryos. Further investigations using in situ hybridization revealed strong expressions of Mid1 and Mid2 in the epithelium of approaching facial prominences and downregulated expressions after fusion in mouse embryos.
conclusionsOur results support the hypothesis of functional redundancy of Mid1/Mid2 and their potential roles in regulating tissue remodelling in early development.
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