| Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia. | Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.
Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroğlu E, Schreiber R, Ortigoza-Escobar JD, Kunzelmann K. | 06/11/2024 |
| The Clinical Spectrum of ANO3-Report of a New Family and Literature Review. | The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
Percetti M, Zini M, Soliveri P, Cogiamanian F, Ferrara M, Orunesu E, Ranghetti A, Ferrarese C, Pezzoli G, Garavaglia B, Isaias IU, Sacilotto G., | 03/13/2024 |
| A novel ANO3 variant in two siblings with different phenotypes. | A novel ANO3 variant in two siblings with different phenotypes.
Esposito M, Trinchillo A, Piceci-Sparascio F, D'Asdia MC, Consoli F, De Luca A. | 06/15/2023 |
| The expanding clinical and genetic spectrum of ANO3 dystonia. | The expanding clinical and genetic spectrum of ANO3 dystonia.
Jiang LT, Li LX, Liu Y, Zhang XL, Pan YG, Wang L, Wan XH, Jin LJ. | 05/1/2021 |
| De-novo genetic variants in childhood-onset, generalized dystonia represent underestimated phenotypic expression changes in ANO3. | Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K. | 05/2/2020 |
| Study reports a novel c.1969G>A mutation in the ANO3 gene in a family presenting with a typical dystonia phenotype consistent with previous reports: onset mainly after the fourth decade, begins as cervical dystonia, but evolves to segmental dystonia, without leg involvement or any generalized dystonia. | Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
Miltgen M, Blanchard A, Mathieu H, Kreisler A, Jean-Pierre-Desvignes, Salgado D, Roubertie A, Barre L, Rai G, Blanck V, Frederic M, Douay X, Mazzolenni R, Charpentier P, Gonzalez V, Destée A, Béroud C, Collod-Béroud G. | 03/3/2018 |
| This study demonstrated that whole-exome sequencing show reveled ANO3 mutation with early-onset generalized dystonia. | Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J. | 08/26/2017 |
| HTRA2 and ANO3 mutations are not common causes of essential tremor | A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.
Renaud M, Marcel C, Rudolf G, Schaeffer M, Lagha-Boukbiza O, Chanson JB, Chelly J, Anheim M, Tranchant C., Free PMC Article | 01/14/2017 |
| This study demonstrated that Mutations in ANO3 may cause Dystonia. | Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
Ma LY, Wang L, Yang YM, Feng T, Wan XH. | 01/2/2016 |
| rat Ano3 (also known as Tmem16c) interacts with, and alters the activity of the sodium-activated potassium channel Slack. Reduced expression of Ano3 in rat models results in increased pain sensitivity. | TMEM16C facilitates Na(+)-activated K+ currents in rat sensory neurons and regulates pain processing.
Huang F, Wang X, Ostertag EM, Nuwal T, Huang B, Jan YN, Basbaum AI, Jan LY., Free PMC Article | 08/27/2015 |
| ANO3 causes a varied phenotype of young-onset or adult-onset craniocervical dystonia with tremor and/or myoclonic jerks | The phenotypic spectrum of DYT24 due to ANO3 mutations.
Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP., Free PMC Article | 02/28/2015 |
| Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in primary torsion dystonia pathogenesis. | Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
Zech M, Gross N, Jochim A, Castrop F, Kaffe M, Dresel C, Lichtner P, Peters A, Gieger C, Meitinger T, Haslinger B, Winkelmann J. | 09/20/2014 |
| Our findings indicate that rare exonic variants in ANO3 do not play a major role in the development of essentail tremor | Rare variants in ANO3 are not a susceptibility factor in essential tremor.
Hopfner F, Bungeroth M, Pendziwiat M, Tittmann L, Deuschl G, Schneider SA, Kuhlenbäumer G. | 09/13/2014 |
| Mutations in ANO3 are a cause of autosomal-dominant craniocervical dystonia. | Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW., Free PMC Article | 02/16/2013 |
| The significant single nucleotide polymorphisms are located within the overlapping anoctamin 3 (ANO3) and mucin 15 (MUC15) genes. | The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma.
Dizier MH, Margaritte-Jeannin P, Madore AM, Esparza-Gordillo J, Moffatt M, Corda E, Monier F, Guilloud-Bataille M, Franke A, Weidinger S, Annesi-Maesano I, Just J, Pin I, Kauffmann F, Cookson W, Lee YA, Laprise C, Lathrop M, Bouzigon E, Demenais F. | 01/26/2013 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| C11orf25, FLJ10261 (ORAOV2), C12orf3 and FLJ34272 constitute a family of eight-transmembrane proteins with N- and C-terminal tails facing the cytoplasm. | FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products.
Katoh M, Katoh M. | 12/5/2003 |