ArticleHuman genome variation2021
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.
Article in Human genome variation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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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.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Review
- Exonic and IntronicDiagnostics (Basel, Switzerland) · 2025Article
- NovelChildren (Basel, Switzerland) · 2024Article
- Article
- Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.Human genome variation · 2024Article
- Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.Human genome variation · 2023Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in the first exon of the MSX1 gene. The deletion leads to a frameshift and generates a premature termination codon. The truncated form of MSX1, namely, p.(Trp145Leufs*24) lacks the homeodomain, which is crucial for transcription factor function.
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Registered trials
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