ArticleScientific reports2017
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- Distinct structural mechanisms drive gain-of-function activation of TMEM16E in gnathodiaphyseal dysplasia.Research square · 2026Article
- Calcium dependent activation of the TMEM16F scramblase and ion channel.Nature structural & molecular biology · 2026Article
- Benign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.Journal of bone and mineral metabolism · 2026Review
- Anoctamin 5 mutation leads to abnormal bone homeostasis of GDD by regulating AMPK-dependent glucose metabolism.Frontiers in endocrinology · 2026Article
- Article
- Article
- Anoctamin-5 deficiency enhances ATG9A-dependent autophagy, inducing osteogenesis and gnathodiaphyseal dysplasia-like bone formation.JCI insight · 2025Article
- Ano5Bone reports · 2025Article
- Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis inFrontiers in endocrinology · 2023Article
- Review
- The allosteric mechanism leading to an open-groove lipid conductive state of the TMEM16F scramblase.Communications biology · 2022Article
- Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.Molecular genetics & genomic medicine · 2022Article
- Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia.NPJ genomic medicine · 2022Article
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene.Bone reports · 2020Article
- ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.Scientific reports · 2019Article
- Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia.Journal of human genetics · 2019Article
- Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia.Head & neck · 2019Article
- Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.Cellular and molecular life sciences : CMLS · 2018Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. One Caucasian family with seven affected members exhibited frequent bone fractures and florid osseous dysplasia (p.Cys356Tyr), while one Chinese family with two affected members suffered from cementoma and purulent osteomyelitis (p.Cys360Tyr). In addition, two different novel mutations (p.Gly518Glu and p.Arg215Gly) were identified in sporadic patients without family history. In vitro studies overexpressing GDD mutations (p.Cys356Tyr and p.Cys360Tyr) showed significantly reduced ANO5 protein. It appears that all GDD mutations known so far locate in an extracellular domain following the first transmembrane domain or in the 4
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