Associated Papers
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
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
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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.
Jin L et al.
Scientific Reports, 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
TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability.
Tran TT et al.
Journal of Cellular Physiology, 2014
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
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
Bolduc V et al.
American Journal of Human Genetics, 2010
Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1.
Tsutsumi S et al.
Biochemical and Biophysical Research Communications, 2005
The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).
Tsutsumi S et al.
American Journal of Human Genetics, 2004