Associated Papers
Double jaw surgery for a patient with Gnathodiaphyseal dysplasia (GDD): A case report and literature review.
Fanning M et al.
Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-maxillo-facial Surgery, 2025
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.
Cuvelier V et al.
Prenatal Diagnosis, 2024
Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
Zhou Z et al.
Molecular Genetics & Genomic Medicine, 2024
Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis in Ano5Cys360Tyr knock-in mouse model.
Li H et al.
Frontiers in Endocrinology, 2023
Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.
Soontrapa P et al.
Genes, 2022
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.
Yassaee VR et al.
Molecular Genetics & Genomic Medicine, 2022
Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia.
Li H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia.
Shaibani A et al.
Neurology. Genetics, 2021
TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
Di Zanni E et al.
Human Mutation, 2020
Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.
Marechal G et al.
Journal of Stomatology, Oral and Maxillofacial Surgery, 2019
Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia.
Lv M et al.
Journal of Human Genetics, 2019
Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD).
Wang X et al.
Calcified Tissue International, 2019
Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia.
Zeng B et al.
Head & Neck, 2019
Known structures and unknown mechanisms of TMEM16 scramblases and channels.
Falzone ME et al.
The Journal of General Physiology, 2018
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.
Di Zanni E et al.
Cellular and Molecular Life Sciences : Cmls, 2018
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).
Otaify GA et al.
Bone, 2018
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.
Jin L et al.
Scientific Reports, 2017
A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis.
Rolvien T et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.
Andreeva TV et al.
Scientific Reports, 2016
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.
Duong HA et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2016
Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia.
Vengoechea J et al.
American Journal of Medical Genetics. Part A, 2015
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
Marconi C et al.
European Journal of Human Genetics : Ejhg, 2013
The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5.
Monjaret F et al.
Human Gene Therapy. Clinical Development, 2013