Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2004
Abstract: Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age, bowing of tubular bones, and diaphyseal sclerosis of long… read more here.
Keywords: dysplasia novel; novel genetic; genetic variant; dysplasia ... See more keywords
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia
Sign Up to like & getrecommendations! Published in 2017 at "Cellular and Molecular Life Sciences"
DOI: 10.1007/s00018-017-2704-9
Abstract: Mutations in the human TMEM16E (ANO5) gene are associated both with the bone disease gnathodiaphyseal dysplasia (GDD; OMIM: 166260) and muscle dystrophies (OMIM: 611307, 613319). However, the physiological function of TMEM16E has remained unclear. We… read more here.
Keywords: function tmem16e; tmem16e ano5; tmem16e; function ... See more keywords
Genetic disruption of Ano5 leads to impaired osteoclastogenesis for gnathodiaphyseal dysplasia.
Sign Up to like & getrecommendations! Published in 2023 at "Oral diseases"
DOI: 10.1111/odi.14562
Abstract: OBJECTIVES Gnathodiaphyseal dysplasia (GDD; OMIM#166260) is a rare skeletal genetic disorder characterized by sclerosis of tubular bones and cemento-osseous lesions in mandibles. TMEM16E/ANO5 gene mutations have been identified in patients with GDD. Here, Ano5 knockout… read more here.
Keywords: osteoclastogenesis; genetic disruption; ano5 mice; ano5 ... See more keywords
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000612
Abstract: Objective To investigate the molecular basis of muscle disease and gnathodiaphyseal dysplasia (GDD) in a large kindred with 11 (6 women and 5 men) affected family members. Methods We performed clinical assessment of 3 patients… read more here.
Keywords: gnathodiaphyseal dysplasia; related disorder; muscle; ano5 related ... See more keywords