Associated Papers
Anoctamin 5 mutation leads to abnormal bone homeostasis of GDD by regulating AMPK-dependent glucose metabolism.
Li H et al.
Frontiers in Endocrinology, 2026
ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure.
Zhang L et al.
Bmc Oral Health, 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
Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia.
Li X et al.
Npj Genomic Medicine, 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
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
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.
Jin L et al.
Scientific Reports, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
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