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 Deficiency Leads to Abnormal Bone Formation via miR-34c-5p/KLF4/β-Catenin in Gnathodiaphyseal Dysplasia.
Wang S et al.
International Journal of Molecular Sciences, 2025
Ano5Cys360Tyr mutation leads to bone dysfunction of gnathodiaphyseal dysplasia via disturbing Akt signaling.
Li H et al.
Bone Reports, 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
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
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
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
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016