| Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review. | Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
Zhou Z, Zhang Y, Zhu L, Cui Y, Gao Y, Zhou CX., Free PMC Article | 02/7/2024 |
| Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort. | Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. | 09/6/2023 |
| Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer. | Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer.
Fukami T, Shiozaki A, Kosuga T, Kudou M, Shimizu H, Ohashi T, Arita T, Konishi H, Komatsu S, Kubota T, Fujiwara H, Okamoto K, Kishimoto M, Morinaga Y, Konishi E, Otsuji E., Free PMC Article | 10/8/2022 |
| Muscle biopsy and MRI findings in ANO5-related myopathy. | Muscle biopsy and MRI findings in ANO5-related myopathy.
Holm-Yildiz S, Witting N, de Stricker Borch J, Kass K, Khawajazada T, Krag T, Vissing J. | 03/26/2022 |
| Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy. | Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
Mavillard F, Servián-Morilla E, Rivas E, Paradas C, Cabrera-Serrano M. | 12/25/2021 |
| TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling. | TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
Di Zanni E, Gradogna A, Picco C, Scholz-Starke J, Boccaccio A. | 11/6/2021 |
| Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency. | Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency.
Khawajazada T, Kass K, Rudolf K, de Stricker Borch J, Sheikh AM, Witting N, Vissing J. | 10/23/2021 |
| ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype. | ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.
Sandal S, Arora V, Verma IC. | 10/16/2021 |
| 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 |
| Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2. | Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
Pan R, Lu Q, Ren C, Li H, Zeng F, Tian X, Chen H., Free PMC Article | 07/31/2021 |
| Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum. | Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
Panadés-de Oliveira L, Bermejo-Guerrero L, de Fuenmayor-Fernández de la Hoz CP, Cantero Montenegro D, Hernández Lain A, Martí P, Muelas N, Vilchez JJ, Domínguez-González C. | 07/31/2021 |
| Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations. | Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
Vázquez J, Lefeuvre C, Escobar RE, Luna Angulo AB, Miranda Duarte A, Delia Hernandez A, Brisset M, Carlier RY, Leturcq F, Durand-Canard MC, Nicolas G, Laforet P, Malfatti E. | 07/24/2021 |
| Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern. | Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.
Seguí F, Gonzalez-Quereda L, Sanchez A, Matas-García A, Garrabou G, Rodriguez MJ, Gallano P, Grau JM, Milisenda JC. | 06/12/2021 |
| Genetic association analysis identifies a role for ANO5 in prostate cancer progression. | Genetic association analysis identifies a role for ANO5 in prostate cancer progression.
Yu CC, Chen LC, Huang CY, Lin VC, Lu TL, Lee CH, Huang SP, Bao BY., Free PMC Article | 05/15/2021 |
| ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure. | ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
Jarmula A, Łusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, Töpf A, Straub V, Rosiak E, Szczepaniak K, Dunin-Horkawicz S, Maruszak A, Kaminska AM, Redowicz MJ., Free PMC Article | 10/24/2020 |
| Through whole-genome sequencing, the novel mutation c.1067G>T (p.C356F) in ANO5 is responsible for the atypical gnathodiaphyseal dysplasia observed in our patients. GDD should be included in the differential diagnosis for patients with fibro-osseous lesions. | Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia.
Zeng B, Liao J, Zhang H, Fu S, Chen W, Pan G, Li Q, Chen W, Ferrone S, Wu B, Sun S, Hu J, Ahn MH, Lin Z, Yu D, Ou Z, Wang X, Mo F, Huang N, Hamilton JA, Li J, Fan S., Free PMC Article | 05/30/2020 |
| A novel missense mutation p.C356W in anoctamin 5 (ANO5) gene was successfully identified as the pathogenic mutation by whole-exome sequencing (WES). | Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia.
Lv M, You G, Wang J, Fu Q, Gupta A, Li J, Sun J. | 12/7/2019 |
| 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 |
| elucidating TMEM16E function | Lifting the veils on TMEM16E function.
Boccaccio A, Di Zanni E, Gradogna A, Scholz-Starke J., Free PMC Article | 10/5/2019 |
| First direct demonstration of Ca(2+)-dependent Phospholipid scrambling activity for TMEM16E; this suggests a gain-of-function phenotype related to a Gnathodiaphyseal dysplasia mutation. | Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.
Di Zanni E, Gradogna A, Scholz-Starke J, Boccaccio A., Free PMC Article | 10/27/2018 |
| After Ano5 gene knock-down with shRNA in MC3T3-E1 osteoblast precursors the authors saw elevated expression of osteoblast-related genes such as Col1a1, osteocalcin, osterix and Runx2 as well as increased mineral nodule formation in differentiating cells. The data suggest that ANO5 plays a role in osteoblast differentiation. | Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.
Jin L, Liu Y, Sun F, Collins MT, Blackwell K, Woo AS, Reichenberger EJ, Hu Y., Free PMC Article | 10/20/2018 |
| The Limb-girdle muscular dystrophy 2L family was characterized by mild chronic myopathy and bilateral gastrocnemius hypertrophy with obviously increased creatine kinase levels. Pathological changes included atrophy of fibers with interstitial connective tissues hyperplasia. The pathogenic allele was a c.220C> T mutation in the ANO5 gene. | First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features.
Hu B, Xiong L, Zhou Y, Lu X, Xiong Q, Liu Q, Qi X, Ding W., Free PMC Article | 09/29/2018 |
| A heterozygous mutation in the ANO5 gene c.1067G > A (p.Cys356Tyr) was identified in both affected individuals in a Russian family with giant cementoma and bone fractures consistent with a diagnosis of gnathodiaphyseal dysplasia. | Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.
Andreeva TV, Tyazhelova TV, Rykalina VN, Gusev FE, Goltsov AY, Zolotareva OI, Aliseichik MP, Borodina TA, Grigorenko AP, Reshetov DA, Ginter EK, Amelina SS, Zinchenko RA, Rogaev EI., Free PMC Article | 05/19/2018 |
| Results show that ANO5 is downregulated in thyroid cancer and, negatively associated with lymph node metastasis. Its inhibition promotes the migration and invasion of thyroid cancer cells suggesting it as a tumor marker. | Anoctamin5 regulates cell migration and invasion in thyroid cancer.
Chang Z, Cai C, Han D, Gao Y, Li Q, Feng L, Zhang W, Zheng J, Jin J, Zhang H, Wei Q. | 05/19/2018 |
| Study characterized 12 newly identified and 2 previously identified patients with ANO5 mutations from 11 families. Material was genetically homogeneous with most patients homozygous for the Finnish founder variant c.2272C>T (p.Arg758Cys). In one family, study found a novel p.Met470Arg variant compound heterozygous with p.Arg758Cys. | Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.
Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin AL, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki AE, Piirilä P, Kiuru-Enari S. | 03/17/2018 |