Genomes and Genes
Gene Symbol: ANO5
Description: anoctamin 5
Alias: GDD1, LGMD2L, TMEM16E, anoctamin-5, gnathodiaphyseal dysplasia 1 protein, integral membrane protein GDD1, transmembrane protein 16E
- Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophyJoachim Schessl
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Germany
Muscle Nerve 45:740-2. 2012Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy.
- Miyoshi-like distal myopathy with mutations in anoctamin 5 geneF 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...
- A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie 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, ..
- A new distal myopathy with mutation in anoctamin 5Ibrahim 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...
- Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophiesVéronique 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...
- Anoctamin/TMEM16 family members are Ca2+-activated Cl- channelsH 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...
- A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12J 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...
- 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...
- Autosomal recessive limb-girdle muscular dystrophies in the Czech RepublicKristyna 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.
- Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skippingPushpa 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...
- Aerobic training in patients with anoctamin 5 myopathy and hyperckemiaChristoffer 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. 2014b>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.
- A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in KoreansSoo 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. ..
- Decreased Aerobic Capacity in ANO5-Muscular DystrophyEmil Ylikallio
Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
J Neuromuscul Dis 3:475-485. 2016Anoctaminopathies 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.
- Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathyIlka Schneider
Department of Neurology, Martin Luther University Halle Wittenberg, Halle Saale, Germany
Acta Myol 33:19-21. 2014Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause proximal limb girdle muscular dystrophy (LGMD2L), Miyoshi-type distal myopathy (MM3) and asymptomatic hyper- CKemia...
- Early-onset limb-girdle muscular dystrophy-2L in a female athletePatrick R Blackburn
Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL
Muscle Nerve . 2016Limb-girdle muscular dystrophy-2L (LGMD2L) is an autosomal recessive muscular dystrophy caused by pathogenic variants in anoctamin-5 (ANO5)...
- Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic manRajat Lahoria
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA
Muscle Nerve 50:610-3. 2014Recessive 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.
- 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...
- A novel finding of anoctamin 5 expression in the rodent gastrointestinal tractHai 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. 2014b>Anoctamin 5 (Ano5) belongs to the anoctamin gene family and acts as a calcium-activated chloride channel (CaCC)...
- Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophyDanielle 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 ..
- Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophiesLeroy 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...
- Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMarco 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. 2015We 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) ..
- The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar 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...
- Integrated Genetic, Epigenetic, and Transcriptional Profiling Identifies Molecular Pathways in the Development of Laterally Spreading TumorsLuke 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)...
- A Role of TMEM16E Carrying a Scrambling Domain in Sperm MotilitySayuri Gyobu
Laboratory of Biochemistry and Immunology, Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan
Mol Cell Biol 36:645-59. 2015b>Transmembrane protein 16E (TMEM16E) belongs to the TMEM16 family of proteins that have 10 transmembrane regions and appears to localize intracellularly...
- Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophyJing 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. 2015b>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...
- A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover OsteosclerosisTim 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...
- Modulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMCKarl 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)...
- Cellular functions of TMEM16/anoctaminUhtaek 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...
- Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophiesT 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...
- Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenaseRagnar 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)...
- Anoctamins are a family of Ca2+-activated Cl- channelsYuemin 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...
- Amyloidosis and exercise intolerance in ANO5 muscular dystrophyMargherita Milone
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neuromuscul Disord 22:13-5. 2012b>Anoctamin 5 and dysferlin mutations can result in myopathies with similar clinical phenotype. Amyloid deposits can occur in the muscle of patients with dysferlinopathy...
- ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteinsCharity 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...
- Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5S Penttilä
Neuromuscular Research Unit, Tampere University and University Hospital, Tampere, Finland
Neurology 78:897-903. 2012Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy.
- Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsFrancesca 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. 2012Limb-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...
- Muscle MRI findings in limb girdle muscular dystrophy type 2LAnna Sarkozy
Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
Neuromuscul Disord 22:S122-9. 2012Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with recessive mutations in the ANO5 gene...
- Genetic risk factors in two Utah pedigrees at high risk for suicideH 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)...
- Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI studyIbrahim 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 ..
- TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming abilityTa 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. 2014b>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...
- The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5François Monjaret
Genethon, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8587, 91000 Evry, France
Hum Gene Ther Clin Dev 24:65-76. 2013Mutations 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...
- Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expressionNanna Witting
Neuromuscular Research Unit and Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
J Neurol 260:2084-93. 2013Since 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...
- ANO5-muscular dystrophy: clinical, pathological and molecular findingsT 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. 2013b>Anoctamin 5 (ANO5) is a putative intracellular calcium-activated chloride channel...
- ANO5 mutations in the Dutch limb girdle muscular dystrophy populationAnneke 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...
- ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna 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...
- Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2LAnn 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...
- Dilated cardiomyopathy in patients with mutations in anoctamin 5K 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. 2013Homozygous 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...
- A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigreeCaterina 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...
- Identification and characterization of TMEM16E and TMEM16F genes in silicoMasuko 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...
- Identification and characterization of human TP53I5 and mouse Tp53i5 genes in silicoMasuko 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...
- Characterization of human TMEM16G gene in silicoMasuko Katoh
M and M Medical BioInformatics, Narashino 275 0022, Japan
Int J Mol Med 14:759-64. 2004TMEM16A, 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...
- GDD1 is identical to TMEM16E, a member of the TMEM16 familyMasuko Katoh
Am J Hum Genet 75:927-8; author reply 928-9. 2004
- Identification and characterization of TMEM16H gene in silicoMasuko 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...
- Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1Satoshi Tsutsumi
Division of Genetic Information, Institute for Genome Research, The University of Tokushima, Tokushima, Japan
Biochem Biophys Res Commun 331:1099-106. 2005Mutations in the GDD1 gene cause gnathodiaphyseal dysplasia, a rare human skeletal syndrome with autosomal dominant inheritance...
- Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasiaKuniko Mizuta
Division of Cervico Gnathostomatology, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan
Biochem Biophys Res Commun 357:126-32. 2007The human GDD1/TMEM16E gene has been found to be mutated in gnathodiaphyseal dysplasia, an unusual skeletal syndrome with autosomal dominant inheritance...
- Expression cloning of TMEM16A as a calcium-activated chloride channel subunitBjörn 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)...
- Chloride channelopathiesRosa 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.
- Recurring gnathodiaphyseal dysplasia in two Russian brothersV 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...
- TMEM16A/anoctamin 1 protein mediates calcium-activated chloride currents in pulmonary arterial smooth muscle cellsBoris 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...
- 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 elongationJuan 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...
- Other limb-girdle muscular dystrophiesAnthony 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 ..
- 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 ..
- [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. 2011Recessive 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...
- Renzhi Han; Fiscal Year: 2016..Our preliminary data found that anoctamin 5 (Ano5) plays an essential role in membrane repair in myocytes...
- Chloride SignalingH 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 ..
- A Pilot Study of Etanercept in DermatomyositisAnthony 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. ..