Article

Ano5 Mutation Leads to Bone Dysfunction of Gnathodiaphyseal Dysplasia via Disturbing Akt Signaling

2024-09-10

Abstract excerpt

<title>Abstract</title> <p>Background Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by osteosclerosis of the tubular bones and cemento-osseous lesions of the mandibles. <italic>Anoctamin 5</italic> (<italic>ANO5</italic>) is the pathogenic gene, however, the specific molecular mechanism of GDD remains unclear. Herein, a knockin (<italic>Ano5</italic><sup><italic>KI/K...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 033a80bb-897c-54ae-8b2e-930ec7f07059
DOI: 10.21203/rs.3.rs-4897322/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Ano5 Mutation Leads to Bone Dysfunction of Gnathodiaphyseal Dysplasia via Disturbing Akt SignalingDOI 10.21203/rs.3.rs-4897322/v1Read

Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia.Semantic proximity Read

A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis.Semantic proximity Read

Anoctamin 5 mutation leads to abnormal bone homeostasis of GDD by regulating AMPK-dependent glucose metabolism.Semantic proximity Read

Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasiaSemantic proximity Read

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).Semantic proximity Read

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.Semantic proximity Read

Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.Semantic proximity Read

Wnt signaling: Essential roles in osteoblast differentiation, bone metabolism and therapeutic implications for bone and skeletal disordersSemantic proximity Read

ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.Semantic proximity Read

The intricate mechanism of PLS3 in bone homeostasis and disease.Semantic proximity Read

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?Semantic proximity Read

Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease.Semantic proximity Read