Genetic disruption of Ano5 leads to impaired osteoclastogenesis for gnathodiaphyseal dysplasia. | Genetic disruption of Ano5 leads to impaired osteoclastogenesis for gnathodiaphyseal dysplasia. Liu X, Wang X, Ma X, Li H, Miao C, Tian Z, Hu Y. | 06/12/2024 |
TMEM16E regulates endothelial cell procoagulant activity and thrombosis. | TMEM16E regulates endothelial cell procoagulant activity and thrombosis. Schmaier AA, Anderson PF, Chen SM, El-Darzi E, Aivasovsky I, Kaushik MP, Sack KD, Hartzell HC, Parikh SM, Flaumenhaft R, Schulman S., Free PMC Article | 06/5/2023 |
Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia. | Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia. Li H, Wang X, Chen E, Liu X, Ma X, Miao C, Tian Z, Dong R, Hu Y. | 04/23/2022 |
Sex differences in the involvement of skeletal and cardiac muscles in myopathic Ano5(-/-) mice. | Sex differences in the involvement of skeletal and cardiac muscles in myopathic Ano5(-/-) mice. Foltz S, Wu F, Ghazal N, Kwong JQ, Hartzell HC, Choo HJ., Free PMC Article | 03/12/2022 |
ANO5 ensures trafficking of annexins in wounded myofibers. | ANO5 ensures trafficking of annexins in wounded myofibers. Foltz SJ, Cui YY, Choo HJ, Hartzell HC., Free PMC Article | 09/11/2021 |
Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRalpha. | Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRα. Kubozono K, Mizuta K, Fujimoto S, Tran TT, Kamata N, Tobiume K. | 02/13/2021 |
Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD). | Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD). Wang X, Liu X, Dong R, Liang C, Reichenberger EJ, Hu Y. | 08/29/2020 |
Ano5 is involved in bone remodeling through regulating the function of osteoclasts rather than that of osteoblasts. | Role of anoctamin 5, a gene associated with gnathodiaphyseal dysplasia, in osteoblast and osteoclast differentiation. Kim JH, Kim K, Kim I, Seong S, Kim SW, Kim N. | 02/22/2020 |
ANO5-mediated phospholipid scrambling or ionic currents play an important role in muscle repair. | Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion. Whitlock JM, Yu K, Cui YY, Hartzell HC., Free PMC Article | 10/12/2019 |
Here we show that Ano5-deficient mice have reduced capacity to repair the sarcolemma following laser-induced damage, exhibit delayed regeneration after cardiotoxin injury and suffer from defective myoblast fusion necessary for the proper repair and regeneration of multinucleated myotubes. these data suggest that ANO5 plays an important role in sarcolemmal membrane dynamics. | Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy. Griffin DA, Johnson RW, Whitlock JM, Pozsgai ER, Heller KN, Grose WE, Arnold WD, Sahenk Z, Hartzell HC, Rodino-Klapac LR., Free PMC Article | 07/29/2017 |
TMEM16E(-/-) sperm showed no apparent defect in morphology, beating, mitochondrial function, capacitation, or binding to zona pellucida. However, they showed reduced motility and inefficient fertilization of cumulus-free but zona-intact eggs in vitro. | A Role of TMEM16E Carrying a Scrambling Domain in Sperm Motility. Gyobu S, Miyata H, Ikawa M, Yamazaki D, Takeshima H, Suzuki J, Nagata S., Free PMC Article | 06/28/2016 |
Ano5 mRNA and protein are widely expressed in the esophagus, stomach, duodenum, colon and rectum but Ano5 immunoreactivity are only detected in the mucosal layer, except for the muscular layer of the upper esophagus, which consists of skeletal muscle. | A novel finding of anoctamin 5 expression in the rodent gastrointestinal tract. Song HY, Tian YM, Zhang YM, Zhou L, Lian H, Zhu JX. | 10/25/2014 |
characterized the complete cDNA sequence and genomic organization of the mouse GDD1 gene | Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. Tsutsumi S, Inoue H, Sakamoto Y, Mizuta K, Kamata N, Itakura M. | 01/21/2010 |
These observations suggest diverse cellular role(s) of GDD1 in the development of musculoskeletal system. | Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyatake K, Miyawaki K, Noji S, Kamata N, Itakura M. | 01/21/2010 |