ANO5

Summary

Gene Symbol: ANO5
Description: anoctamin 5
Alias: GDD1, LGMD2L, TMEM16E, anoctamin-5, gnathodiaphyseal dysplasia 1 protein, integral membrane protein GDD1, transmembrane protein 16E
Species: human

Top Publications

  1. doi Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy
    Joachim Schessl
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Germany
    Muscle Nerve 45:740-2. 2012
  2. doi Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
    F Bouquet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, AP HP, 47 83, Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Rev Neurol (Paris) 168:135-41. 2012
  3. pmc A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy
    Debbie Hicks
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 134:171-82. 2011
  4. pmc A new distal myopathy with mutation in anoctamin 5
    Ibrahim Mahjneh
    Department of Neurology, Oulu University Hospital, Oulu, Finland Department of Neurology, Pietarsaari Central Hospital, Pietarsaari, Finland
    Neuromuscul Disord 20:791-5. 2010
  5. pmc Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies
    Véronique Bolduc
    Laboratoire de neurogénétique de la motricité, Centre de recherche du Centre Hospitalier de l Universite de Montreal, Montreal, Quebec, Canada
    Am J Hum Genet 86:213-21. 2010
  6. pmc Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels
    H Criss Hartzell
    Department of Cell Biology, Emory University School of Medicine, 615 Michael Street, 535 Whitehead Bldg, Atlanta, GA 30322, USA
    J Physiol 587:2127-39. 2009
  7. ncbi A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12
    J Jarry
    Neurogenetics of Locomotion Laboratory, Centre de recherche du Centre Hospitalier de l Universite de Montreal, Montreal, Quebec, Canada
    Brain 130:368-80. 2007
  8. pmc The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)
    Satoshi Tsutsumi
    First Department of Oral and Maxillofacial Surgery, University of Tokushima, Tokushima, Japan
    Am J Hum Genet 74:1255-61. 2004
  9. pmc Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
    Kristyna Stehlikova
    Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Cernopolni 9, Brno, 613 00, Czech Republic
    BMC Neurol 14:154. 2014
  10. doi Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping
    Pushpa Raj Joshi
    Department of Neurology, Martin Luther University Halle Wittenberg, Germany Electronic address
    Neuromuscul Disord 24:43-7. 2014

Research Grants

  1. Renzhi Han; Fiscal Year: 2016
  2. Chloride Signaling
    H Hartzell; Fiscal Year: 2003
  3. A Pilot Study of Etanercept in Dermatomyositis
    Anthony Amato; Fiscal Year: 2007

Scientific Experts

  • Ibrahim Mahjneh
  • M Katoh
  • Uhtaek Oh
  • Luke B Hesson
  • Karl Kunzelmann
  • P R Joshi
  • Karim Wahbi
  • Joachim Schessl
  • Anneke J van der Kooi
  • ANTHONY ARNOLD AMATO
  • H Criss Hartzell
  • M Deschauer
  • Nanna Witting
  • Marco Seri
  • M Milone
  • Rosa Planells-Cases
  • Renzhi Han
  • Kuniko Mizuta
  • Anna Sarkozy
  • Mitsuo Itakura
  • Hiroshi Inoue
  • Nobuyuki Kamata
  • Debbie Hicks
  • Charity Duran
  • Satoshi Tsutsumi
  • Hemakumar M Reddy
  • Tim Rolvien
  • T V Andreeva
  • Patrick R Blackburn
  • Danielle A Griffin
  • Emil Ylikallio
  • Ragnar P Kristjansson
  • Marco Savarese
  • A M McInerney-Leo
  • Jing Xu
  • Sayuri Gyobu
  • Soo Heon Kwak
  • Leroy Ten Dam
  • Rajat Lahoria
  • Hai Yan Song
  • Ta To Tran
  • Christoffer R Vissing
  • Ilka Schneider
  • Kristyna Stehlikova
  • Caterina Marconi
  • François Monjaret
  • H Coon
  • Ann A Little
  • T Liewluck
  • Maggie C Walter
  • Herbert Schreiber
  • Dieter Glaser
  • Benedikt Schoser
  • Jürgen Seeger
  • Bertold Schrank
  • Volker Straub
  • Hanns Lochmuller
  • Kate Bushby
  • S Penttilä
  • Marianne de Visser
  • Yuemin Tian
  • Wim H J P Linssen
  • F Bouquet
  • Francesca Magri
  • Isabelle Richard
  • Rumaisa Bashir
  • Juan Li
  • Boris Manoury
  • V V Roginsky
  • Véronique Bolduc
  • Björn Christian Schroeder
  • J Jarry
  • Yukiko Sakamoto
  • Satomi Mitsuhashi
  • Hart Gw Lidov
  • Kyung Ah Cho
  • David M Margulies
  • Monkol Lek
  • Elise Valkanas
  • Catherine A Brownstein
  • Michael D Jones
  • Daniel G MacArthur
  • Basil T Darras
  • Mustafa A Salih
  • Louis M Kunkel
  • Peter B Kang
  • Elicia Estrella
  • Timothy W Yu
  • Mervi Löfberg
  • Gudny A Arnadottir

Detail Information

Publications67

  1. doi Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy
    Joachim Schessl
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Germany
    Muscle Nerve 45:740-2. 2012
    Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy.
  2. doi Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
    F Bouquet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, AP HP, 47 83, Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Rev Neurol (Paris) 168:135-41. 2012
    ..We report here the first French cases of anoctamin 5 myopathy in 2 brothers presenting with a Miyoshi-like pattern...
  3. pmc A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy
    Debbie Hicks
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 134:171-82. 2011
    ..Recently, mutations in the ANO5 gene, which encodes a putative calcium-activated chloride channel belonging to the Anoctamin family of proteins, ..
  4. pmc A new distal myopathy with mutation in anoctamin 5
    Ibrahim Mahjneh
    Department of Neurology, Oulu University Hospital, Oulu, Finland Department of Neurology, Pietarsaari Central Hospital, Pietarsaari, Finland
    Neuromuscul Disord 20:791-5. 2010
    ..in these patients to be defective membrane repair and more recently have identified the causative gene to be anoctamin 5 (ANO5). The disorder seen in these patients is characterized by onset in the third decade...
  5. pmc Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies
    Véronique Bolduc
    Laboratoire de neurogénétique de la motricité, Centre de recherche du Centre Hospitalier de l Universite de Montreal, Montreal, Quebec, Canada
    Am J Hum Genet 86:213-21. 2010
    ..To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia...
  6. pmc Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels
    H Criss Hartzell
    Department of Cell Biology, Emory University School of Medicine, 615 Michael Street, 535 Whitehead Bldg, Atlanta, GA 30322, USA
    J Physiol 587:2127-39. 2009
    ..Some members of this family are up-regulated in a number of tumours and functional deficiency in others is linked to developmental defects...
  7. ncbi A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12
    J Jarry
    Neurogenetics of Locomotion Laboratory, Centre de recherche du Centre Hospitalier de l Universite de Montreal, Montreal, Quebec, Canada
    Brain 130:368-80. 2007
    ..3% of French-Canadian mutations. In this study, we describe the chromosomal locus of a new form of recessive LGMD with prominent quadriceps femoris atrophy...
  8. pmc The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)
    Satoshi Tsutsumi
    First Department of Oral and Maxillofacial Surgery, University of Tokushima, Tokushima, Japan
    Am J Hum Genet 74:1255-61. 2004
    ..3-15.1. In the critical region determined by recombination mapping, we identified a novel gene (GDD1) that encodes a 913-amino-acid protein containing eight putative transmembrane-spanning domains...
  9. pmc Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
    Kristyna Stehlikova
    Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Cernopolni 9, Brno, 613 00, Czech Republic
    BMC Neurol 14:154. 2014
    ..In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes.
  10. doi Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping
    Pushpa Raj Joshi
    Department of Neurology, Martin Luther University Halle Wittenberg, Germany Electronic address
    Neuromuscul Disord 24:43-7. 2014
    ..So far, no case with a silent mutation leading to abnormal splicing has been identified in Anoctamin 5 muscular dystrophy...
  11. doi Aerobic training in patients with anoctamin 5 myopathy and hyperckemia
    Christoffer R Vissing
    Neuromuscular Research Unit, Department of Neurology, Section 3342, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK 2100, Copenhagen, Denmark
    Muscle Nerve 50:119-23. 2014
    b>Anoctamin 5 deficiency has recently been defined to cause limb-girdle muscular dystrophy type 2L (LGMD2L) with pronounced hyperCKemia. No treatment interventions have been made so far in this condition.
  12. pmc A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans
    Soo Heon Kwak
    Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea
    Hum Mol Genet 23:4433-42. 2014
    ..2 × 10(-7)). In conclusion, we have identified genetic variants that are strongly associated with TSH level and anti-TPO antibody positivity in Koreans. Further replications and meta-analysis are required to confirm these findings. ..
  13. ncbi Decreased Aerobic Capacity in ANO5-Muscular Dystrophy
    Emil Ylikallio
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    J Neuromuscul Dis 3:475-485. 2016
    Anoctaminopathies are muscle diseases caused by recessive mutations in the ANO5 gene. The effects of anoctaminopathy on oxidative capacity have not previously been studied in a controlled setting.
  14. pmc Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy
    Ilka Schneider
    Department of Neurology, Martin Luther University Halle Wittenberg, Halle Saale, Germany
    Acta Myol 33:19-21. 2014
    Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause proximal limb girdle muscular dystrophy (LGMD2L), Miyoshi-type distal myopathy (MM3) and asymptomatic hyper- CKemia...
  15. doi Early-onset limb-girdle muscular dystrophy-2L in a female athlete
    Patrick R Blackburn
    Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL
    Muscle Nerve . 2016
    Limb-girdle muscular dystrophy-2L (LGMD2L) is an autosomal recessive muscular dystrophy caused by pathogenic variants in anoctamin-5 (ANO5)...
  16. doi Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man
    Rajat Lahoria
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA
    Muscle Nerve 50:610-3. 2014
    Recessive mutations in the anoctamin-5 gene (ANO5) cause a spectrum of clinical phenotypes, including limb-girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia.
  17. doi COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
    A M McInerney-Leo
    Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia
    Clin Genet 88:49-55. 2015
    ..Mutations in Anoctamin-5 (ANO5) have been identified in some cases...
  18. doi A novel finding of anoctamin 5 expression in the rodent gastrointestinal tract
    Hai Yan Song
    Key Laboratory for medical tissue regeneration of Henan province, School of Basic Medical Sciences, Xinxiang Medical University, Xinxiang 453003, PR China
    Biochem Biophys Res Commun 451:258-62. 2014
    b>Anoctamin 5 (Ano5) belongs to the anoctamin gene family and acts as a calcium-activated chloride channel (CaCC)...
  19. pmc Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy
    Danielle A Griffin
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital
    Hum Mol Genet 25:1900-1911. 2016
    ..Recessive mutations in ANO5 (TMEM16E) have been directly linked to several clinical phenotypes including limb-girdle muscular dystrophy type 2L and ..
  20. doi Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies
    Leroy Ten Dam
    Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands
    Neuromuscul Disord 24:1097-102. 2014
    ..data of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) and limb girdle muscular dystrophy 2L (LGMD2L) were described. MMD1 and MMD3 are genetically heterogenous diseases based on DYSF and ANO5 gene defects...
  21. pmc Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
    Marco Savarese
    Telethon Institute of Genetics and Medicine, Pozzuoli NA, Italy Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Universita di Napoli, Napoli, Italy
    Neuromuscul Disord 25:533-41. 2015
    We studied 786 undiagnosed patients with LGMD or nonspecific myopathic features to investigate the role of ANO5 mutations in limb-girdle muscular dystrophies (LGMDs) and in nonspecific myopathies using the next generation sequencing (NGS) ..
  22. pmc The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States
    Hemakumar M Reddy
    Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA
    J Hum Genet 62:243-252. 2017
    ..Dominant mutations were identified in COL6A1, COL6A3, FLNC, LMNA, RYR1, SMCHD1 and VCP, recessive mutations in ANO5, CAPN3, GAA, LAMA2, SGCA and SGCG, and X-linked mutations in DMD...
  23. ncbi Integrated Genetic, Epigenetic, and Transcriptional Profiling Identifies Molecular Pathways in the Development of Laterally Spreading Tumors
    Luke B Hesson
    Adult Cancer Program, Lowy Cancer Research Centre and Prince of Wales Clinical School, UNSW Australia, Sydney, New South Wales, Australia
    Mol Cancer Res 14:1217-1228. 2016
    ..and transcriptional alterations were identified in genes not previously implicated in colorectal neoplasia (ANO5, MED12L, EPB41L4A, RGMB, SLITRK1, SLITRK5, NRXN1, ANK2)...
  24. pmc A Role of TMEM16E Carrying a Scrambling Domain in Sperm Motility
    Sayuri Gyobu
    Laboratory of Biochemistry and Immunology, Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan
    Mol Cell Biol 36:645-59. 2015
    b>Transmembrane protein 16E (TMEM16E) belongs to the TMEM16 family of proteins that have 10 transmembrane regions and appears to localize intracellularly...
  25. pmc Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy
    Jing Xu
    Department of Surgery, Davis Heart and Lung Research Institute, Biomedical Sciences Graduate Program, Biophysics Graduate Program, The Ohio State University Wexner Medical Center, Columbus, OH 43210 USA
    Skelet Muscle 5:43. 2015
    b>Anoctamin 5 (ANO5) is a member of a conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca(2+)-activated chloride channel (CaCC) activity...
  26. doi A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis
    Tim Rolvien
    Department of Osteology and Biomechanics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    J Bone Miner Res . 2016
    ..Although the genetic analysis of the respective patients has revealed mutations in the ANO5 gene as an underlying cause, there is still no established consensus regarding the bone status of GDD patients...
  27. doi Modulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMC
    Karl Kunzelmann
    Institut fur Physiologie, Universitat Regensburg, Universitätsstraße 31, 93053, Regensburg, Germany
    Pflugers Arch 468:475-90. 2016
    ..infection (ANO10), skeletal syndromes like gnathodiaphyseal dysplasia and limb girdle muscle dystrophy (ANO5), and cancer (ANO1, 6, 7)...
  28. pmc Cellular functions of TMEM16/anoctamin
    Uhtaek Oh
    Sensory Research Center, CRI, College of Pharmacy, Seoul National University, Seoul, 151 742, South Korea
    Pflugers Arch 468:443-53. 2016
    ..b>ANO5 is associated with muscle and bone diseases...
  29. pmc Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
    T V Andreeva
    Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia
    Sci Rep 6:26440. 2016
    ..Whole exome sequencing revealed the heterozygous missense mutation c.1067G > A (p.Cys356Tyr) in ANO5 gene in these patients...
  30. pmc Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
    Ragnar P Kristjansson
    deCODE Genetics Amgen, Inc, 101 Reykjavik, Iceland
    Nat Commun 7:10572. 2016
    ..variants in genes encoding the enzymes being measured (CKM and LDHA), as well as in genes linked to muscular (ANO5) and immune/inflammatory function (CD163/CD163L1, CSF1, CFH, HLA-DQB1, LILRB5, NINJ1 and STAB1)...
  31. doi Anoctamins are a family of Ca2+-activated Cl- channels
    Yuemin Tian
    Institut fur Physiologie, Universitat Regensburg, Universitätsstraße 31, 93053 Regensburg, Germany
    J Cell Sci 125:4991-8. 2012
    ..They may operate as Cl(-) channels located in the plasma membrane or in intracellular compartments. These results increase our understanding of the physiological significance of anoctamins and their role in disease...
  32. doi Amyloidosis and exercise intolerance in ANO5 muscular dystrophy
    Margherita Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neuromuscul Disord 22:13-5. 2012
    b>Anoctamin 5 and dysferlin mutations can result in myopathies with similar clinical phenotype. Amyloid deposits can occur in the muscle of patients with dysferlinopathy...
  33. pmc ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins
    Charity Duran
    Department of Cell Biology and Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia 30322 3030, USA
    Am J Physiol Cell Physiol 302:C482-93. 2012
    ..However, none of the chimeras of ANO1 and ANO5/7 that we made trafficked to the plasma membrane...
  34. doi Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5
    S Penttilä
    Neuromuscular Research Unit, Tampere University and University Hospital, Tampere, Finland
    Neurology 78:897-903. 2012
    Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy.
  35. pmc Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
    Francesca Magri
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
    Neuromuscul Disord 22:934-43. 2012
    Limb-girdle muscular dystrophy (LGMD) 2L, caused by mutations in the anoctamin 5 (ANO5) gene, is the third most common LGMD in Northern and Central Europe, where the c.191dupA mutation causes the majority of cases...
  36. doi Muscle MRI findings in limb girdle muscular dystrophy type 2L
    Anna Sarkozy
    Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
    Neuromuscul Disord 22:S122-9. 2012
    Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with recessive mutations in the ANO5 gene...
  37. pmc Genetic risk factors in two Utah pedigrees at high risk for suicide
    H Coon
    Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA
    Transl Psychiatry 3:e325. 2013
    ..Results included several membrane protein genes (ANO5, and TMEM141 for pedigree 12 and FAM38A and HRCT1 for pedigree 5)...
  38. doi Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study
    Ibrahim Mahjneh
    Department of Neurology, University of Oulu, Oulu, Finland
    Neuromuscul Disord 22:S130-6. 2012
    ..We conclude that the pattern of muscle involvement seen in patients with distal myopathy with anoctamin 5 mutations (MMD3) is typical and can thus be useful during the differential diagnosis process allowing for a ..
  39. doi TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability
    Ta To Tran
    Department of Oral and Maxillofacial Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
    J Cell Physiol 229:181-90. 2014
    b>TMEM16E/GDD1 has been shown to be responsible for the bone-related late-onset disease gnathodiaphyseal dysplasia (GDD), with the dominant allele (TMEM16E(gdd) ) encoding a missense mutation at Cys356...
  40. doi The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5
    François Monjaret
    Genethon, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8587, 91000 Evry, France
    Hum Gene Ther Clin Dev 24:65-76. 2013
    Mutations in dysferlin and anoctamin 5 are the cause of muscular disorders, with the main presentations as limb-girdle muscular dystrophy or Miyoshi type of distal myopathy...
  41. doi Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression
    Nanna Witting
    Neuromuscular Research Unit and Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    J Neurol 260:2084-93. 2013
    Since the initial description in 2010 of anoctamin 5 deficiency as a cause of muscular dystrophy, a handful of papers have described this disease in cases of mixed populations...
  42. doi ANO5-muscular dystrophy: clinical, pathological and molecular findings
    T Liewluck
    Department of Neurology, Mayo Clinic, Rochester, MN, USA Department of Neurology, University of Colorado Denver School of Medicine, Anschutz Medical Campus, Aurora, CO, USA
    Eur J Neurol 20:1383-9. 2013
    b>Anoctamin 5 (ANO5) is a putative intracellular calcium-activated chloride channel...
  43. doi ANO5 mutations in the Dutch limb girdle muscular dystrophy population
    Anneke J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Neuromuscul Disord 23:456-60. 2013
    ..In half the families a causative mutation was found. Recently mutations were identified in ANO5 causing LGMD2L and Miyoshi-like myopathy (MMD3), but could also be found in patients with hyperCKemia only...
  44. doi ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation
    Anna Sarkozy
    Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK
    Hum Mutat 34:1111-8. 2013
    ..An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported...
  45. doi Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L
    Ann A Little
    Department of Neurology, University of Michigan Medical Center, 1500 E Medical Center Drive, 1C327 UH, EMG Lab, Ann Arbor, Michigan 48109, USA
    Muscle Nerve 47:287-91. 2013
    ..We present a Jordanian man with the typical LGMD 2L phenotype of early, asymmetric quadriceps weakness and subsequent biceps brachii weakness...
  46. doi Dilated cardiomyopathy in patients with mutations in anoctamin 5
    K Wahbi
    AP HP, GH Pitié Salpétrière, Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Paris, France
    Int J Cardiol 168:76-9. 2013
    Homozygous mutations in ANO5, a gene encoding anoctamin 5, a putative calcium-activated chloride channel, have recently been reported in patients with adult-onset myopathies or isolated high-CK levels...
  47. pmc A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree
    Caterina Marconi
    Unità di Genetica Medica, Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Universita di Bologna, Bologna, Italy
    Eur J Hum Genet 21:613-9. 2013
    ..b>Anoctamin 5 (ANO5) belongs to the anoctamin protein family that includes calcium-activated chloride channels...
  48. ncbi Identification and characterization of TMEM16E and TMEM16F genes in silico
    Masuko Katoh
    M and M Medical BioInformatics, Narashino 275 0022, Japan
    Int J Oncol 24:1345-9. 2004
    ..1) and 9330162L24 cDNA (AK034197.1) were designated human TMEM16E gene and mouse Tmem16e gene, respectively. Novel genes corresponding to DKFZp451M105 cDNA (AL832340...
  49. ncbi Identification and characterization of human TP53I5 and mouse Tp53i5 genes in silico
    Masuko Katoh
    M and M Medical BioInformatics, Narashino 275 0022, Japan
    Int J Oncol 25:225-30. 2004
    ..TP53I5 orthologs were homologous to TMEM16A (FLJ10261 or ORAOV2), TMEM16B, TMEM16C, TMEM16D, TMEM16E and TMEM16F with the TM16H1, TM16H2, and TM16H3 domains...
  50. ncbi Characterization of human TMEM16G gene in silico
    Masuko Katoh
    M and M Medical BioInformatics, Narashino 275 0022, Japan
    Int J Mol Med 14:759-64. 2004
    TMEM16A, TMEM16B, TMEM16C, TMEM16D, TMEM16E, TMEM16F and TP53I5 are TMEM16 family eight-transmembrane proteins with N- and C-terminal tails facing the cytoplasm. TMEM16A gene at human chromosome 11q13...
  51. pmc GDD1 is identical to TMEM16E, a member of the TMEM16 family
    Masuko Katoh
    Am J Hum Genet 75:927-8; author reply 928-9. 2004
  52. ncbi Identification and characterization of TMEM16H gene in silico
    Masuko Katoh
    M and M Medical BioInformatics, Hongo 113 0033, Japan
    Int J Mol Med 15:353-8. 2005
    ..3. TMEM16A, TMEM16B, TMEM16C, TMEM16D, TMEM16E (GDD1), TMEM16F, TMEM16G and TP53I5 are TMEM16 family proteins with TM16H1, TM16H2 and TM16H3 domains...
  53. ncbi Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1
    Satoshi Tsutsumi
    Division of Genetic Information, Institute for Genome Research, The University of Tokushima, Tokushima, Japan
    Biochem Biophys Res Commun 331:1099-106. 2005
    Mutations in the GDD1 gene cause gnathodiaphyseal dysplasia, a rare human skeletal syndrome with autosomal dominant inheritance...
  54. ncbi Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia
    Kuniko Mizuta
    Division of Cervico Gnathostomatology, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan
    Biochem Biophys Res Commun 357:126-32. 2007
    The human GDD1/TMEM16E gene has been found to be mutated in gnathodiaphyseal dysplasia, an unusual skeletal syndrome with autosomal dominant inheritance...
  55. pmc Expression cloning of TMEM16A as a calcium-activated chloride channel subunit
    Björn Christian Schroeder
    Department of Physiology, Howard Hughes Medical Institute, University of California San Francisco, San Francisco, CA 94143, USA
    Cell 134:1019-29. 2008
    ..among eukaryotes, with family members linked to tracheomalacia (mouse TMEM16A), gnathodiaphyseal dysplasia (human TMEM16E), aberrant X segregation (a Drosophila TMEM16 family member), and increased sodium tolerance (yeast TMEM16)...
  56. doi Chloride channelopathies
    Rosa Planells-Cases
    Centro de Investigacion Principe Felipe, Valencia, Spain
    Biochim Biophys Acta 1792:173-89. 2009
    ..e. CLC chloride channels and transporters, ABC transporters, and GABA- and glycine receptors. Diseases due to mutations in TMEM16E and bestrophin 1 might be due to a loss of Ca++-activated Cl- channels, although this remains to be shown.
  57. doi Recurring gnathodiaphyseal dysplasia in two Russian brothers
    V V Roginsky
    Moscow Central Institute for Stomatology and Maxillofacial Surgery, Moscow, Russian Federation
    Int J Oral Maxillofac Surg 39:397-401. 2010
    ..Gnathodiaphyseal dysplasia is a rare autonomic dominant syndrome due to a mutation of the TMEM16E gene...
  58. pmc TMEM16A/anoctamin 1 protein mediates calcium-activated chloride currents in pulmonary arterial smooth muscle cells
    Boris Manoury
    Faculty of Life Sciences, University of Manchester, Manchester, UK
    J Physiol 588:2305-14. 2010
    ..in rat PASMCs and that TMEM16F and TMEM16K were also expressed in these cells, while TMEM16B, TMEM16D and TMEM16E were all at least 50 times less abundantly expressed and the remaining TMEM16 family members were absent...
  59. pmc Mutation of rice BC12/GDD1, which encodes a kinesin-like protein that binds to a GA biosynthesis gene promoter, leads to dwarfism with impaired cell elongation
    Juan Li
    Research Center for Molecular and Developmental Biology, Key Laboratory of Photosynthesis and Environmental Molecular Physiology, Institute of Botany, Chinese Academy of Sciences, Beijing 100093, China
    Plant Cell 23:628-40. 2011
    ..Here, we describe a rice (Oryza sativa) mutant, gibberellin-deficient dwarf1 (gdd1), that has a phenotype of greatly reduced length of root, stems, spikes, and seeds...
  60. doi Other limb-girdle muscular dystrophies
    Anthony A Amato
    Department of Neurology, Neuromuscular Division, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115 6110, USA
    Handb Clin Neurol 101:119-24. 2011
    ..b>LGMD2L is caused by newly described mutations in ANO5 and can sometimes present with distal weakness resembling Miyoshi ..
  61. pmc Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?
    Charity Duran
    Emory University School of Medicine, Department of Cell Biology and Center for Neurodegenerative Disease, Atlanta, GA 30322, USA
    Acta Pharmacol Sin 32:685-92. 2011
    ..excitement about Tmem16 proteins has been enhanced by the finding that Ano1 has been linked to cancer, mutations in Ano5 are linked to several forms of muscular dystrophy (LGMDL2 and MMD-3), mutations in Ano10 are linked to autosomal ..
  62. doi [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]
    M Deschauer
    Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, Ernst Grube Str 40, 06097 Halle Saale, Deutschland
    Nervenarzt 82:1596-603. 2011
    Recessive mutations in the anoctamin 5 (ANO5) gene have been recently identified in families with limb girdle muscular dystrophy (LGMD2L) and distal non-dysferlin Miyoshi myopathy...

Research Grants3

  1. Renzhi Han; Fiscal Year: 2016
    ..Our preliminary data found that anoctamin 5 (Ano5) plays an essential role in membrane repair in myocytes...
  2. Chloride Signaling
    H Hartzell; Fiscal Year: 2003
    ..in the roles of chloride in membrane trafficking, neuroscientists interested in the signaling of chloride channels, transport physiologists involved in ion homeostasis, and geneticists interested in channelopathies ..
  3. A Pilot Study of Etanercept in Dermatomyositis
    Anthony Amato; Fiscal Year: 2007
    ..The information gained from this study is necessary in order to design larger therapeutic trials of etanercept and other agents in DM. ..