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Page 1
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.
Cuvelier V, Trost D, Stichelbout M, Michot C, Cormier-Daire V, Boutry N, Machet E, Vincent-Delorme C. Cuvelier V, et al. Prenat Diagn. 2024 Aug;44(9):1098-1104. doi: 10.1002/pd.6631. Epub 2024 Jun 23. Prenat Diagn. 2024. PMID: 38922934 Review.
This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. ...
This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the …
Lifting the veils on TMEM16E function.
Boccaccio A, Di Zanni E, Gradogna A, Scholz-Starke J. Boccaccio A, et al. Channels (Austin). 2019 Dec;13(1):33-35. doi: 10.1080/19336950.2018.1557470. Channels (Austin). 2019. PMID: 30672373 Free PMC article. Review. No abstract available.
Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.
Marechal G, Schouman T, Mauprivez C, Benassarou M, Chaine A, Diner PA, Zazurca F, Soupre V, Michot C, Baujat G, Khonsari RH. Marechal G, et al. J Stomatol Oral Maxillofac Surg. 2019 Nov;120(5):428-431. doi: 10.1016/j.jormas.2019.01.005. Epub 2019 Jan 11. J Stomatol Oral Maxillofac Surg. 2019. PMID: 30641283 Review.
Gnathodiaphyseal Dysplasia (GDD) is a rare, often misdiagnosed, autosomal-dominant disorder due to point mutations in the ANO5 gene. ...
Gnathodiaphyseal Dysplasia (GDD) is a rare, often misdiagnosed, autosomal-dominant disorder due to point mutations in the ANO5 …
Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis in Ano5Cys360Tyr knock-in mouse model.
Li H, Liu S, Miao C, Lv Y, Hu Y. Li H, et al. Front Endocrinol (Lausanne). 2023 Jan 20;14:1117111. doi: 10.3389/fendo.2023.1117111. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36742392 Free PMC article.
INTRODUCTION: Gnathodiaphyseal dysplasia (GDD; OMIM#166260) is a rare autosomal dominant disorder characterized by diaphyseal sclerosis of tubular bones and cemento-osseous lesions in mandibles. ...
INTRODUCTION: Gnathodiaphyseal dysplasia (GDD; OMIM#166260) is a rare autosomal dominant disorder characterized by diaphyseal …
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.
Yassaee VR, Khojasteh A, Hashemi-Gorji F, Sadeghi H, Safiaghdam H, Mirfakhraie R. Yassaee VR, et al. Mol Genet Genomic Med. 2022 Sep;10(9):e2004. doi: 10.1002/mgg3.2004. Epub 2022 Jun 27. Mol Genet Genomic Med. 2022. PMID: 35758145 Free PMC article.
BACKGROUND: Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age, bowing of tubular bones, and diaphyseal sclerosis of lon …
BACKGROUND: Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous …
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.
Jin L, Liu Y, Sun F, Collins MT, Blackwell K, Woo AS, Reichenberger EJ, Hu Y. Jin L, et al. Sci Rep. 2017 Feb 8;7:40935. doi: 10.1038/srep40935. Sci Rep. 2017. PMID: 28176803 Free PMC article.
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. ...
Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of …
Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia.
Li H, Wang X, Chen E, Liu X, Ma X, Miao C, Tian Z, Dong R, Hu Y. Li H, et al. J Bone Miner Res. 2022 Mar;37(3):515-530. doi: 10.1002/jbmr.4481. Epub 2021 Dec 22. J Bone Miner Res. 2022. PMID: 34841576 Free article.
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by the osteosclerosis of tubular bones and the formation of cemento-osseous lesions in mandibles. ...
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by the osteosclerosis of tubular b …
Modulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMC.
Kunzelmann K, Cabrita I, Wanitchakool P, Ousingsawat J, Sirianant L, Benedetto R, Schreiber R. Kunzelmann K, et al. Pflugers Arch. 2016 Mar;468(3):475-90. doi: 10.1007/s00424-015-1767-4. Epub 2015 Dec 23. Pflugers Arch. 2016. PMID: 26700940 Review.
Compromised anoctamin function is causing a wide range of diseases, such as hearing loss (ANO2), bleeding disorder (ANO6), ataxia and dystonia (ANO3, 10), persistent borrelia and mycobacteria infection (ANO10), skeletal syndromes like gnathodiaphyseal dysplasia and …
Compromised anoctamin function is causing a wide range of diseases, such as hearing loss (ANO2), bleeding disorder (ANO6), ataxia and dyston …
Role of anoctamin 5, a gene associated with gnathodiaphyseal dysplasia, in osteoblast and osteoclast differentiation.
Kim JH, Kim K, Kim I, Seong S, Kim SW, Kim N. Kim JH, et al. Bone. 2019 Mar;120:432-438. doi: 10.1016/j.bone.2018.12.010. Epub 2018 Dec 14. Bone. 2019. PMID: 30557634
Anoctamin 5 (Ano5) mutations are responsible for gnathodiaphyseal dysplasia, a rare skeletal syndrome. Despite the close linkage of Ano5 to bone remodeling, the molecular mechanisms underlying the role of Ano5 in bone remodeling remain unknown. ...
Anoctamin 5 (Ano5) mutations are responsible for gnathodiaphyseal dysplasia, a rare skeletal syndrome. Despite the close linka …
Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
Zhou Z, Zhang Y, Zhu L, Cui Y, Gao Y, Zhou CX. Zhou Z, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2277. doi: 10.1002/mgg3.2277. Epub 2023 Aug 30. Mol Genet Genomic Med. 2024. PMID: 37649308 Free PMC article. Review.
Furthermore, autosomal dominant mutations in ANO5 at this locus have been identified in patients with gnathodiaphyseal dysplasia (GDD) and are considered a potential causative agent, suggesting a genetic association between FGC and GDD. ...
Furthermore, autosomal dominant mutations in ANO5 at this locus have been identified in patients with gnathodiaphyseal dysplasia …
25 results