TMEM43

Summary

Gene Symbol: TMEM43
Description: transmembrane protein 43
Alias: ARVC5, ARVD5, EDMD7, LUMA, transmembrane protein 43
Species: human

Top Publications

  1. doi Molecular genetics and pathogenesis of arrhythmogenic right ventricular cardiomyopathy: a disease of cardiac stem cells
    Raffaella Lombardi
    Center for Cardiovascular Genetics, Institute of Molecular Medicine and Department of Medicine, University of Texas Health Sciences Center at Houston, Texas Heart Institute at St Luke s Epsicopal Hospital, 6770 Bertner Street, Suite C900A, Houston, TX 77030, USA
    Pediatr Cardiol 32:360-5. 2011
  2. pmc Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
    Revathi Rajkumar
    UPMC Heart and Vascular Institute, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
    BMC Med Genet 13:21. 2012
  3. pmc Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane
    M Dreger
    Institute for Chemistry Biochemistry, Free University Berlin, Thielallee 63, D 14195 Berlin, Germany
    Proc Natl Acad Sci U S A 98:11943-8. 2001
  4. doi TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy
    Wen Chen Liang
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Ann Neurol 69:1005-13. 2011
  5. doi Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy
    A H Christensen
    Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Denmark
    Clin Genet 80:256-64. 2011
  6. pmc Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
    Nancy D Merner
    Faculty of Medicine, Memorial University, St John s, Newfoundland and Labrador A1B 3V6, Canada
    Am J Hum Genet 82:809-21. 2008
  7. doi LUMA interacts with emerin and influences its distribution at the inner nuclear membrane
    Luiza Bengtsson
    Freie Universitat Berlin, Institut fur Chemie und Biochemie, Thielallee 63, Berlin, Germany
    J Cell Sci 121:536-48. 2008
  8. ncbi Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23
    F Ahmad
    Section of Cardiology, the Graduate Program in Cardiovascular Sciences, The DeBakey Heart Center, Baylor College of Medicine, Houston, Tex 77030, USA
    Circulation 98:2791-5. 1998
  9. pmc Emerin in health and disease
    Adam J Koch
    Committee on Genetics, Genomics and Systems Biology, The University of Chicago, Chicago, IL 60637, USA Electronic address
    Semin Cell Dev Biol 29:95-106. 2014
  10. doi Demosaicking of noisy Bayer-sampled color images with least-squares luma-chroma demultiplexing and noise level estimation
    Gwanggil Jeon
    Department of Embedded Systems Engineering, University of Incheon, Incheon 406 772, Korea
    IEEE Trans Image Process 22:146-56. 2013

Scientific Experts

Detail Information

Publications86

  1. doi Molecular genetics and pathogenesis of arrhythmogenic right ventricular cardiomyopathy: a disease of cardiac stem cells
    Raffaella Lombardi
    Center for Cardiovascular Genetics, Institute of Molecular Medicine and Department of Medicine, University of Texas Health Sciences Center at Houston, Texas Heart Institute at St Luke s Epsicopal Hospital, 6770 Bertner Street, Suite C900A, Houston, TX 77030, USA
    Pediatr Cardiol 32:360-5. 2011
    ..Mutations in TMEM43 and TGFB3, encoding transmembrane protein 43 and transforming growth factor β3, respectively, also have been associated with ARVC...
  2. pmc Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
    Revathi Rajkumar
    UPMC Heart and Vascular Institute, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
    BMC Med Genet 13:21. 2012
    The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood.
  3. pmc Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane
    M Dreger
    Institute for Chemistry Biochemistry, Free University Berlin, Thielallee 63, D 14195 Berlin, Germany
    Proc Natl Acad Sci U S A 98:11943-8. 2001
    ..a 100-kDa protein with similarity to Caenorhabditis elegans Unc-84A and an unrelated 45-kDa protein we named LUMA, reside in the inner nuclear membrane and likely interact with the nuclear lamina...
  4. doi TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy
    Wen Chen Liang
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Ann Neurol 69:1005-13. 2011
    ..We therefore analyzed TMEM43, which encodes LUMA, a newly identified nuclear membrane protein and also a binding partner of emerin and lamins, ..
  5. doi Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy
    A H Christensen
    Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Denmark
    Clin Genet 80:256-64. 2011
    A single report has associated mutations in TMEM43 (LUMA) with a distinctive form of arrhythmogenic right ventricular cardiomyopathy (ARVC)...
  6. pmc Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
    Nancy D Merner
    Faculty of Medicine, Memorial University, St John s, Newfoundland and Labrador A1B 3V6, Canada
    Am J Hum Genet 82:809-21. 2008
    ..36 Mb interval containing 20 annotated genes. Bidirectional resequencing showed one rare variant in transmembrane protein 43 (TMEM43 1073C-->T, S358L), was carried on all recombinant ARVD5 ancestral haplotypes from affected ..
  7. doi LUMA interacts with emerin and influences its distribution at the inner nuclear membrane
    Luiza Bengtsson
    Freie Universitat Berlin, Institut fur Chemie und Biochemie, Thielallee 63, Berlin, Germany
    J Cell Sci 121:536-48. 2008
    We present here a first characterization of LUMA, an unique integral inner nuclear membrane (INM) protein...
  8. ncbi Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23
    F Ahmad
    Section of Cardiology, the Graduate Program in Cardiovascular Sciences, The DeBakey Heart Center, Baylor College of Medicine, Houston, Tex 77030, USA
    Circulation 98:2791-5. 1998
    ..Clinical manifestations include structural and functional abnormalities of the right ventricle and arrhythmias, leading to a sudden death rate of 2.5% per year. Four loci have been mapped, but no gene has been identified as yet...
  9. pmc Emerin in health and disease
    Adam J Koch
    Committee on Genetics, Genomics and Systems Biology, The University of Chicago, Chicago, IL 60637, USA Electronic address
    Semin Cell Dev Biol 29:95-106. 2014
    ..Additional EDMD-like syndromes are caused by mutations in nesprins and LUMA. This review will specifically focus on emerin function and the current thinking for how loss or mutations in ..
  10. doi Demosaicking of noisy Bayer-sampled color images with least-squares luma-chroma demultiplexing and noise level estimation
    Gwanggil Jeon
    Department of Embedded Systems Engineering, University of Incheon, Incheon 406 772, Korea
    IEEE Trans Image Process 22:146-56. 2013
    This paper adapts the least-squares luma-chroma demultiplexing (LSLCD) demosaicking method to noisy Bayer color filter array (CFA) images. A model is presented for the noise in white-balanced gamma-corrected CFA images...
  11. pmc Pretreatment levels of circulating Th1 and Th2 cytokines, and their ratios, are associated with ER-negative and triple negative breast cancers
    Chi Chen Hong
    Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Breast Cancer Res Treat 139:477-88. 2013
    ..ER(+); triple negative breast cancer (TNBC) vs. luminal A (LumA)]. Ratios of Th1 to Th2 cytokines were also evaluated...
  12. doi The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus
    Hendrik Milting
    Herz and Diabeteszentrum NRW, Universitatsklinik der Ruhr Universitat Bochum, Erich and Hanna Klessmann Institut f Kardiovaskuläre Forschung und Entwicklung and Zentrum für Angeborene Herzfehler, GeorgStr 11, D 32545 Bad Oeynhausen, Germany
    Eur Heart J 36:872-81. 2015
    ..S358L in TMEM43. Although TMEM43-p...
  13. doi Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology
    Werner W Franke
    Helmholtz Group for Cell Biology, German Cancer Research Center DKFZ, Im Neuenheimer Feld 280, D 69120, Heidelberg, Germany
    Cell Tissue Res 357:159-72. 2014
    In a series of recent reports, mutations in the gene encoding a protein called LUMA (or TMEM43), widely speculated to be a tetraspan transmembrane protein of the nuclear envelope, have been associated with a specific subtype of ..
  14. pmc Global methylation levels in peripheral blood leukocyte DNA by LUMA and breast cancer: a case-control study in Japanese women
    A Kuchiba
    1 Division of Genetics, National Cancer Center Research Institute, 5 1 1 Tsukiji, Tokyo 104 0045, Japan 2 Department of Biostatistics, National Cancer Center, 5 1 1 Tsukiji, Tokyo 104 0045, Japan
    Br J Cancer 110:2765-71. 2014
    ..We examined the association between the global methylation level of peripheral blood leukocyte DNA and breast cancer among Japanese women...
  15. pmc Global DNA methylation of ischemic stroke subtypes
    Carolina Soriano-Tárraga
    Department of Neurology, Neurovascular Research Group, IMIM Hospital del Mar Institut Hospital del Mar d Investigacions Mèdiques, Universitat Autonoma de Barcelona DCEXS Universitat Pompeu Fabra, Barcelona, Spain
    PLoS ONE 9:e96543. 2014
    ..Global DNA methylation was measured by luminometric methylation assay (LUMA) of DNA blood samples...
  16. pmc TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy
    Vinayakumar Siragam
    Physiology and Experimental Medicine, The Hospital for Sick Children and Research Institute, Toronto, Ontario, Canada
    PLoS ONE 9:e109128. 2014
    ..A heterozygous missense mutation in the transmembrane protein 43 (TMEM43) gene, p...
  17. doi Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer
    Arvind Arora
    Department of Oncology, Nottingham University Hospitals, Nottingham, United Kingdom Academic Unit of Oncology, Division of Cancer and Stem Cells, School of Medicine, University of Nottingham, Nottingham, United Kingdom
    Mol Cancer Ther 14:1057-65. 2015
    ..0001), and PAM50.LumB (P < 0.0001) and Genufu subtype (ER(+)/Her2(-)/high proliferation; P < 0.0001). PAM50.LumA tumors and Genufu subtype (ER(+)/Her2(-)/low proliferation) were more likely to express low levels of BLM mRNA (ps &..
  18. doi TMEM43/LUMA is a key signaling component mediating EGFR-induced NF-κB activation and tumor progression
    C Jiang
    Department of Molecular and Cellular Oncology, The University of Texas, MD Anderson Cancer Center, Houston, TX, USA
    Oncogene . 2016
    ..Complementation-based functional genomics method to perform a high throughput screening and identified TMEM43/LUMA as a critical component in EGFR signaling network, mediating EGFR-induced NF-κB activation...
  19. ncbi Breast cancer molecular subtypes and locoregional recurrence
    M C Cheang
    University of British Columbia, Vancouver, BC, Canada British Columbia Cancer Agency, Vancouver, BC, Canada Washington University School of Medicine, St Louis, MO University of Utah Health Sciences Center, Salt Lake City, UT University of North Carolina at Chapel Hill, Chapel Hill, NC
    J Clin Oncol 26:510. 2008
    ..profiling studies have consistently revealed prognostically significant breast cancer subtypes: Luminal A (LumA), Luminal B (LumB), HER2, and Basal-like...
  20. pmc Common profiles of Notch signaling differentiate disease-free survival in luminal type A and triple negative breast cancer
    Magdalena Orzechowska
    Department of Molecular Carcinogenesis, Medical University of Lodz, Lodz, 90 752, Poland
    Oncotarget . 2016
    ..determine the effect of differential expression of Notch members on disease-free survival (DFS) in luminal type A (lumA) and triple negative (TN) BC.The differential expression of 19 Notch members was examined in a TCGA BC cohort...
  21. doi Heavy metal and trace elements in riparian vegetation and macrophytes associated with lacustrine systems in Northern Patagonia Andean Range
    Andrea Juárez
    Laboratorio de Analisis por Activacion Neutronica, Centro Atomico Bariloche, CNEA, Av Bustillo km 9 5, 8400, Bariloche, Argentina
    Environ Sci Pollut Res Int 23:17995-8009. 2016
    ..potential for absorbing heavy metals and trace elements. The native species studied were riparian Amomyrtus luma, Austrocedrus chilensis, Chusquea culeou, Desfontainia fulgens, Escallonia rubra, Gaultheria mucronata, Lomatia ..
  22. ncbi Melasma and Post Inflammatory Hyperpigmentation: Management Update and Expert Opinion
    B Sofen
    Rush University Medical Center, Chicago, IL, USA
    Skin Therapy Lett 21:1-7. 2016
    ..are hydroquinone (HQ), azelaic acid (AzA), and retinoids - although only HQ and a triple combination cream (Tri-Luma®; fluocinolone acetonide 0.01%, HQ 4%, tretinoin 0...
  23. doi Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy
    Kathleen A Hodgkinson
    From the Clinical Epidemiology Unit, Discipline of Medicine K A H, S S, P S P, Discipline of Genetics K A H, T L Y, F C, A C, and Division of Cardiology A J H, P B, X S S, S P C, Faculty of Medicine, Memorial University, Health Sciences Centre, St John s, NL, Canada
    Circ Arrhythm Electrophysiol 9:. 2016
    ..S358L mutation in TMEM43. We present long-term data (median follow-up 8...
  24. doi Anthocyanins and antioxidant capacities of six Chilean berries by HPLC-HR-ESI-ToF-MS
    Javier E Ramirez
    Laboratorio de Productos Naturales, Departamento de Quimica, Facultad de Ciencias Basicas, Universidad de Antofagasta, Av Coloso S N, Antofagasta, Chile
    Food Chem 176:106-14. 2015
    ..Calafate fruits showed the highest antioxidant activity. However, the highest LP activity was found for Chilean blueberries (>95%) followed by calafate fruits (91.27%) and luma (83.4%).
  25. doi The ARVD/C genetic variants database: 2014 update
    Elisabetta Lazzarini
    Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hum Mutat 36:403-10. 2015
    ..ARVD/C database to contain more than 1,400 variants in 12 ACM-related genes (PKP2, DSP, DSC2, DSG2, JUP, TGFB3, TMEM43, LMNA, DES, TTN, PLN, CTNNA3) as reported in more than 160 references...
  26. doi Global DNA hypomethylation and hypoxia-induced expression of the ten eleven translocation (TET) family, TET1, in scleroderma fibroblasts
    Mai Hattori
    Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan
    Exp Dermatol 24:841-6. 2015
    ..Global methylation status was analysed by LUMA. The presence of 5-hydroxymethylcytosine (5hmC) in SSc was examined by immunohistochemistry...
  27. doi Characterization of fruit development and potential health benefits of arrayan (Luma apiculata), a native berry of South America
    Lida Fuentes
    Centro Regional de Estudios en Alimentos Saludables CREAS, CONICYT Regional GORE Valparaíso Proyecto R12C1001, Avenida Universidad 330, Placilla, Curauma, Valparaiso, Chile Laboratorio de Fisiología Vegetal, INIA La Cruz, Chorrillos 86, La Cruz, Chile Electronic address
    Food Chem 196:1239-47. 2016
    The arrayan berry (Luma apiculata) is a native fruit from South America that belongs to the Myrtaceae family...
  28. pmc Alterations in DNA methylation corresponding with lung inflammation and as a biomarker for disease development after MWCNT exposure
    Traci A Brown
    a Department of Biomedical and Pharmaceutical Sciences, Center for Environmental Health Sciences, University of Montana, Missoula, MT, USA and
    Nanotoxicology 10:453-61. 2016
    ..Using the LuUminometric Methylation Assay (LUMA) and 5-Methylcytosine (5-mC) Quantification assay, we found that MWCNT lead to DNA hypomethylation in the lung and ..
  29. doi Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43
    Takashi Honda
    Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan
    Pediatr Int 58:409-411. 2016
    ..describe a fetal case of arrhythmogenic right ventricular cardiomyopathy (ARVC) with double mutations in transmembrane protein 43 (TMEM43). RV aneurysm and ventricular arrhythmia were detected during the fetal period...
  30. doi Global Analysis of DNA 5-Methylcytosine Using the Luminometric Methylation Assay, LUMA
    Karin Luttropp
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Solna, 171 76, Sweden
    Methods Mol Biol 1315:209-19. 2015
    ..This protocol described here focuses on the Luminometric Methylation Assay (LUMA), a method which analyzes global DNA 5-methylcytosine (5mC) through the use of restriction enzymes and detection ..
  31. pmc DNA isolation method is a source of global DNA methylation variability measured with LUMA. Experimental analysis and a systematic review
    Carolina Soriano-Tárraga
    Neurovascular Research Group Neurology Department Institut Hospital del Mar d Investigacions Mèdiques IMIM, Barcelona, Spain
    PLoS ONE 8:e60750. 2013
    ..We quantified Global DNA Methylation (GDM) by luminometric methylation assay (LUMA), comparing the results from 3 different DNA isolation methods...
  32. pmc Genetic and non-genetic influences during pregnancy on infant global and site specific DNA methylation: role for folate gene variants and vitamin B12
    Jill A McKay
    Institute for Ageing and Health, Human Nutrition Research Centre, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom
    PLoS ONE 7:e33290. 2012
    ..Global (LUMA) and gene specific (IGF2, ZNT5, IGFBP3) DNA methylation were quantified in 430 infants by Pyrosequencing®...
  33. pmc Global DNA methylation levels in white blood cell DNA from sisters discordant for breast cancer from the New York site of the Breast Cancer Family Registry
    Lissette Delgado-Cruzata
    Department of Epidemiology, Mailman School of Public Health of Columbia University, New York, NY, USA
    Epigenetics 7:868-74. 2012
    ..DNA by two different methods, the [ ( 3) H]-methyl acceptance assay and the luminometric methylation assay (LUMA)...
  34. doi The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43
    K A Hodgkinson
    Clinical Epidemiology Unit, Memorial University, Health Sciences Centre, St John s, Newfoundland, Canada
    Clin Genet 83:321-31. 2013
    ..S358L mutation in TMEM43. The age of onset of cardiac symptoms, clinical events and test abnormalities were studied in 412 subjects (258 ..
  35. doi Short distance intra coding scheme for high efficiency video coding
    Xiaoran Cao
    Department of Electronic Engineering, Tsinghua National Laboratory for Information Science and Technology, Tsinghua University, Beijing 100084, China
    IEEE Trans Image Process 22:790-801. 2013
    ..This approach is applied in both luma and chroma components. When integrated into the HEVC reference software, it shows up to a 12...
  36. doi Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada
    Annika F M Haywood
    Faculty of Medicine, Memorial University, St John s, Newfoundland and Labrador, Canada A1B 3V6
    Eur Heart J 34:1002-11. 2013
    ..The most recent gene identified, TMEM43, causes disease due to a missense mutation in a non-desmosomal gene (p...
  37. doi Noise reduction based on partial-reference, dual-tree complex wavelet transform shrinkage
    Massimo Fierro
    School of Electronics Engineering, Kyungpook National University, Daegu 702 701, Korea
    IEEE Trans Image Process 22:1859-72. 2013
    ..of the higher sensitivity of the human visual system to changes in brightness, the analysis can be limited to the luma channel of both the non-enhanced and enhanced image...
  38. doi Antioxidant capacity, polyphenolic content and tandem HPLC-DAD-ESI/MS profiling of phenolic compounds from the South American berries Luma apiculata and L. chequén
    Mario J Simirgiotis
    Laboratorio de Productos Naturales, Departamento de Quimica, Facultad de Ciencias Basicas, Universidad de Antofagasta, Casilla 170, Antofagasta, Chile
    Food Chem 139:289-99. 2013
    ..At present, there is still some regional consume of the small berries from trees belonging to genus Luma that occurs in southern Chile and Argentina...
  39. doi KSHV ORF67 encoded lytic protein localizes on the nuclear membrane and alters emerin distribution
    Antonella Farina
    Istituto Pasteur Fondazione Cenci Bolognetti, Dipartimento di Medicina Sperimentale, Sapienza Universita di Roma, Italy
    Virus Res 175:143-50. 2013
    ..in delocalization and hyperphosphorylation of emerin, whereas other nuclear lamin associated proteins, such as LUMA, LB1 and LBR were not affected...
  40. doi Luma-chroma space filter design for subpixel-based monochrome image downsampling
    Lu Fang
    Department of Electronic Engineering andInformation Science, University of Science and Technology of China, Hefei, China
    IEEE Trans Image Process 22:3818-29. 2013
    ..With the frequency domain analysis of subpixel-based downsampling, we discover special characteristics of the luma-chroma color transform choice for monochrome images...
  41. doi DCT/DST-based transform coding for intra prediction in image/video coding
    Ankur Saxena
    Samsung Telecommunications America, Richardson, TX 75082, USA
    IEEE Trans Image Process 22:3974-81. 2013
    ..complexity, which remove the mode-dependency between DCT and DST, and simply always use DST for the 4 × 4 intra luma blocks, were adopted in the HEVC standard in July 2012...
  42. doi TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations
    Berivan Baskin
    Division of Molecular Genetics, The Hospital for Sick Children, Toronto, Canada
    Hum Genet 132:1245-52. 2013
    ..A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically identified to cause ARVC type 5 in a founder population from ..
  43. pmc Dietary alleviation of maternal obesity and diabetes: increased resistance to diet-induced obesity transcriptional and epigenetic signatures
    Linda Attig
    INRA, UMR1198 Biologie du Développement et Reproduction, Jouy en Josas, France
    PLoS ONE 8:e66816. 2013
    ..Both global DNA methylation and levels of pertinent histone marks were assessed by LUMA and western blotting, and the expression of 15 relevant genes encoding chromatin-modifying enzymes was analyzed in ..
  44. doi Scope and nature of young sudden cardiac death in newfoundland & labrador
    Gina Hamilton
    Memorial University
    J Epidemiol Community Health 67:e2. 2013
    ..In 2008, we identified a significant genetic defect (TMEM43; P358L) in patients and extended relatives from 22 unrelated families with Newfoundland ancestry...
  45. pmc Influence of DNMT genotype on global and site specific DNA methylation patterns in neonates and pregnant women
    Catherine Potter
    Human Nutrition Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom
    PLoS ONE 8:e76506. 2013
    ..Global and gene specific (IGF2, IGFBP3, ZNT5) DNA methylation was quantified by LUMA and bisulfite Pyrosequencing assays, respectively, in neonatal cord blood and in maternal peripheral blood...
  46. pmc Methylome analysis and epigenetic changes associated with menarcheal age
    Christiana A Demetriou
    Department of Electron Microscopy and Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, United Kingdom
    PLoS ONE 8:e79391. 2013
    ..of 376 healthy women from the prospective EPIC study was investigated using LUminometric Methylation Assay (LUMA)...
  47. doi Permanent genetic resources added to Molecular Ecology Resources Database 1 August 2011-30 September 2011
    S W A'Hara
    Forest Research, Northern Research Station, Roslin, Midlothian, Scotland EH25 9SY, UK
    Mol Ecol Resour 12:185-9. 2012
    ..globulus, Garra litaninsis vishwanath, Garra para lissorhynchus, Guindilla trinervis, Hemigrapsus sanguineus, Luma chequen...
  48. pmc DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study
    Xinran Xu
    Research Center for Translational Medicine, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China
    FASEB J 26:2657-66. 2012
    ..We used 2 independent assays, luminometric methylation assay (LUMA) and long interspersed elements-1 (LINE-1) to measure "global methylation content" in peripheral blood DNA from a ..
  49. doi Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy
    M K Larsen
    Department of Forensic Medicine, Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark
    Forensic Sci Int 219:33-8. 2012
    ..A total of 9 of the examined 41 cases had a rare sequence variant in the MYBPC3, MYH7, LMNA, PKP2 or TMEM43 genes, of which 4 cases (9.8%) were presumed to be pathogenic mutations...
  50. pmc Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseases
    Steffen Rickelt
    Helmholtz Group for Cell Biology, German Cancer Research Center, Heidelberg, Germany
    Cell Tissue Res 348:325-33. 2012
    ..DP, DSP), plakoglobin (PG, JUP), plakophilin-2 (Pkp2, PKP2) and some non-desmosomal proteins such as transmembrane protein 43 (TMEM43), ryanodine receptor 2 (RYR2), desmin, lamins A and C, striatin, titin and transforming growth ..
  51. pmc The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5)
    Kathy A Hodgkinson
    Clinical Epidemiology Unit, Memorial University Health Sciences Centre, St John s, Newfoundland, Canada A1B 3V6
    J Am Coll Cardiol 45:400-8. 2005
    ..We sought to determine the impact of implantable cardioverter-defibrillator (ICD) therapy in patients with familial arrhythmogenic right ventricular cardiomyopathy (ARVC)...
  52. ncbi Using LUMA: a Luminometric-based assay for global DNA-methylation
    Mohsen Karimi
    Department of Clinical Neuroscience, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
    Epigenetics 1:45-8. 2006
    ..The method is called LUminometric Methylation Assay (LUMA), and is based on a polymerase extension assay using the Pyrosequencing platform...
  53. ncbi LUMA (LUminometric Methylation Assay)--a high throughput method to the analysis of genomic DNA methylation
    Mohsen Karimi
    Departments of Clinical Neuroscience, Karolinska Institutet, Karolinska University Hospital Solna, SE 171 76 Stockholm, Sweden
    Exp Cell Res 312:1989-95. 2006
    ..we report a novel method to estimate genome-wide DNA methylation, referred to as LUminometric Methylation Assay (LUMA)...
  54. doi Shadow attenuation with high dynamic range images. Creating RGB images that allow feature classification in areas otherwise obscured by shadow or oversaturation
    Samuel E Cox
    Agricultural Science Technician and Rangeland Scientist, USDA Agricultural Research Service, High Plains Grasslands Research Station, 8408 Hildreth Rd, Cheyenne, WY 82009, USA
    Environ Monit Assess 158:231-41. 2009
    ..numbers of pure black, pure white, and pixels visually indistinguishable from black and white; reapportioned skewed luma values towards a normal distribution; and increased the Euclidean distance between litter and bare ground RGB ..
  55. ncbi [Neopsylla musseri n. sp. (Siphonaptera-Ctenophthalmidiae), a new flea from central Sulawesi (Indonesia)]
    J C Beaucournu
    Laboratoire de Parasitologie and Zoologie appliquée, Faculte de Medecine, Rennes, France
    Parasite 6:163-7. 1999
    ..It represents a newly recorded genus and family of fleas for Sulawesi. Morphologically, the closest taxon to N. musseri n. sp. is N. sondaica Jordan, 1931 from Java; it is not closely related to N. luma Traub, 1954 from Borneo.
  56. ncbi Gene-specific promoter hypermethylation without global hypomethylation in follicular thyroid cancer
    Jia Jing Lee
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, CMM L8 01, SE 171 76 Stockholm, Sweden
    Int J Oncol 33:861-9. 2008
    ..bisulphite Pyrosequencing of Long Interspersed Nucleotide Elements-1 (LINE-1) and LUminometric Methylation Assay (LUMA) were used to quantify genome-wide methylation in 21 FTC and corresponding normal thyroid tissues...
  57. doi [Update: catheter-based balloon dilatation of the sinuses without fluoroscopy. Dilation technique with an illumination system]
    D Brehmer
    HNO Gemeinschaftspraxis, Friedrichstr 3 4, 37073 Gottingen
    HNO 56:817-21. 2008
    ..A main criticism of this procedure questions the necessity of fluoroscopy with the C-arm since its use exposes patients and medical personnel to radiation and the C-arm is not available in every ENT operating room...
  58. ncbi [Methylation status of LINE-1 sequences in patients with MDS or secondary AML]
    D Römermann
    Institut fur Pathologie, Medizinische Hochschule Hannover
    Verh Dtsch Ges Pathol 91:338-42. 2007
    ..This study analyzes changes in the degree of global methylationlevel in myelodysplastic syndrome during progression of the disease...
  59. ncbi Increased detection of high-grade cervical intraepithelial neoplasia utilizing an optical detection system as an adjunct to colposcopy
    Ronald D Alvarez
    University of Alabama at Birmingham, Birmingham, Alabama, USA
    Gynecol Oncol 106:23-8. 2007
    ..To evaluate the impact of using a novel optical detection system (ODS) as an adjunct to colposcopy...
  60. ncbi Cost-effectiveness of a fixed combination of hydroquinone/tretinoin/fluocinolone cream compared with hydroquinone alone in the treatment of melasma
    Tania Cestari
    University of Rio Grande do Sul, Porto Alegre, Brazil
    J Drugs Dermatol 6:153-60. 2007
    A once-daily fixed combination of hydroquinone, tretinoin, and fluocinolone acetonide (Tri-luma) is a newly available treatment for melasma.
  61. ncbi LUMA cervical imaging system
    James E Kendrick
    University of Alabama at Birmingham, Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Birmingham, AL 35249 7333, USA
    Expert Rev Med Devices 4:121-9. 2007
    ..The addition of the LUMA (MediSpectra, Inc...
  62. ncbi A comprehensive review of the long-term and short-term treatment of melasma with a triple combination cream
    Helen M Torok
    Trillium Creek Dermatology Center, Medina, Ohio 44526, USA
    Am J Clin Dermatol 7:223-30. 2006
    ..05% tretinoin, 4.0% hydroquinone, and 0.01% fluocinolone acetonide (Tri-Luma) represents the only commercially available combination of all three agents...
  63. pmc The molecular portraits of breast tumors are conserved across microarray platforms
    Zhiyuan Hu
    Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA
    BMC Genomics 7:96. 2006
    ..To overcome this problem we used publicly available breast cancer gene expression data sets and a novel approach to data fusion, in order to validate a new breast tumor intrinsic list...
  64. ncbi Hydroquinone 4%, tretinoin 0.05%, fluocinolone acetonide 0.01%: a safe and efficacious 12-month treatment for melasma
    Helen Mary Torok
    HMT Dermatology Associates, Inc, Medina, Ohio, USA
    Cutis 75:57-62. 2005
    ..01%, hydroquinone 4%, tretinoin 0.05% (Tri-Luma Cream, hereinafter called TC [triple combination]) application in the treatment of melasma...
  65. ncbi SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
    William P McNair
    University of Colorado Cardiovascular Institute, Denver, Colo, USA
    Circulation 110:2163-7. 2004
    ..This region also contains a locus for right ventricular cardiomyopathy (ARVD5) and the cardiac sodium channel gene (SCN5A), mutations that cause isolated progressive cardiac conduction defect (..
  66. ncbi Gateways to clinical trials
    M Bayes
    Prous Science, S A, Barcelona, Spain
    Methods Find Exp Clin Pharmacol 26:211-44. 2004
    ..synthadotin; Tadalafil, tesmilifene hydrochloride, theratope, tipifarnib, tirapazamine, topixantrone hydrochloride, trabectedin, traxoprodil, Tri-Luma; Valdecoxib, valganciclovir hydrochloride, vinflunine; Ximelagatran; Ziconotide.
  67. ncbi Flavonoids and terpenoids from Luma gayana (Barn.) Burret
    G A Wächter
    Department of Pharmacology and Toxicology, College of Pharmacy, University of Arizona, Tucson 85721, USA
    Z Naturforsch C 54:1140-2. 1999
    ..monoterpenoid 1 alpha,2 beta,4 beta-trihydroxy-p-menthane, the sesquiterpenoid clovandiol and beta-sitosterol were isolated from the aerial parts of Luma gayana (Barn.) Burret. This is the first report on the chemistry of this species.
  68. pmc The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14
    D Li
    Department of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 66:148-56. 2000
    ..Chromosomal localization of the ARVD gene is the first step in identification of the genetic defect and the unraveling of the molecular basis responsible for the pathogenesis of the disease...
  69. doi Least-squares luma-chroma demultiplexing algorithm for Bayer demosaicking
    Brian Leung
    Institute of Biomaterials and Biomedical Engineering, University of Toronto, Toronto, ON, Canada
    IEEE Trans Image Process 20:1885-94. 2011
    ..A luma-chroma demultiplexing algorithm is presented in detail, using a least-squares design methodology for the required ..
  70. doi The LINC complex and human disease
    Peter Meinke
    Institute of Human Genetics, Fleischmannstrasse 42 44, D 17475 Greifswald, Germany
    Biochem Soc Trans 39:1693-7. 2011
    ..Recently, screening of binding partners of LINC components as candidates identified LUMA (TMEM43), encoding a binding partner of emerin and lamins, as a gene involved in atypical EDMD...
  71. pmc Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population
    Pranathi Rao Pamuru
    Department of Genetics, Osmania University, Hyderabad, Andhra Pradesh, India
    Indian J Hum Genet 17:70-6. 2011
    ..in desmosomal proteins although three other nondesmosomal genes (cardiac ryanodine receptor-2, TGF-β3, and TMEM43) have also been implicated in ARVC...
  72. pmc Mapuche herbal medicine inhibits blood platelet aggregation
    Susan Skanderup Falkenberg
    Department of Plant Biology and Biotechnology, VKR Research Centre Pro Active Plants, Faculty of Life Sciences, University of Copenhagen, 1871 Copenhagen, Denmark
    Evid Based Complement Alternat Med 2012:647620. 2012
    ..These four species in respective extracts (in brackets) were Blechnum chilense (MeOH), Luma apiculata (H(2)O), Amomyrtus luma (DCM : MeOH 1 : 1) and Cestrum parqui (DCM : MeOH 1 : 1)...
  73. doi Evidence for non-CpG methylation in mammals
    Jie Yan
    Section of Integrative Physiology, Department of Molecular Medicine and Surgery, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
    Exp Cell Res 317:2555-61. 2011
    ..Here, we adapted a LuminoMetric-based Assay (LUMA) to determine global non-CpG methylation levels in rodent and human tissues...
  74. doi Global DNA methylation analysis using the Luminometric Methylation Assay
    Mohsen Karimi
    Department of Medicine, Karolinska University Hospital, Huddinge, Stockholm, Sweden
    Methods Mol Biol 791:135-44. 2011
    ..Luminometric Methylation Assay (LUMA) enables researchers to study global methylation by using methylation-sensitive restriction enzymes followed by ..
  75. pmc Randomized phase II neoadjuvant comparison between letrozole, anastrozole, and exemestane for postmenopausal women with estrogen receptor-rich stage 2 to 3 breast cancer: clinical and biomarker outcomes and predictive value of the baseline PAM50-based int
    Matthew J Ellis
    Siteman Cancer Center, Washington University in St Louis, 660 South Euclid Avenue, St Louis, MO 63110, USA
    J Clin Oncol 29:2342-9. 2011
    ..To study this treatment option, responses to three AIs were compared in a randomized phase II neoadjuvant trial designed to select agents for phase III investigations...
  76. doi Antral lavage using the Luma transilluminaton wire and vortex irrigator--a safe and effective advance in treating pediatric sinusitis
    Jacob W Zeiders
    South Coast Ear, Nose and Throat, Florida State University College of Medicine, Fort Pierce Regional Campus, 1801 SE Hillmoor Dr Ste B105, Port St Lucie, FL 34952, USA
    Int J Pediatr Otorhinolaryngol 75:461-3. 2011
    ..We present an "over the wire" technique using new technology that can improve accuracy and reliability when performing antral lavage...
  77. ncbi Hyperpigmentation: old problem, new therapies
    Syril Keena Que
    New York University School of Medicine, NY, USA
    J Drugs Dermatol 8:879-82. 2009
    ..The authors review new treatment data for fractional thermolysis,Tri-Luma, azelaic acid and chemical peels...
  78. pmc Global methylation profiles in DNA from different blood cell types
    Hui Chen Wu
    Department of Epidemiology, Mailman School of Public Health of Columbia University, New York, NY, USA
    Epigenetics 6:76-85. 2011
    ..DNA methylation for three repetitive elements (LINE1, Sat2, Alu) by MethyLight, luminometric methylation assay (LUMA), and [(3)H]-methyl acceptance assay...
  79. ncbi Clinical efficacy of a bleaching system based on hydrogen peroxide with or without light activation
    Jesús Oteo Calatayud
    Departamento de Estomatología II, Facultad de Odontologia, Universidad Complutense de Madrid, Spain
    Eur J Esthet Dent 5:216-24. 2010
    ..The bleaching agent was QuickWhite 35% hydrogen peroxide and activation was conducted with a diode lamp (Luma Cool). The Classic Vita Guide was used to score tooth shades...
  80. pmc Clinical assessment incorporating a personal genome
    Euan A Ashley
    Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA
    Lancet 375:1525-35. 2010
    ..The cost of genomic information has fallen steeply, but the clinical translation of genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a complete human genome in a clinical context...
  81. doi Correction of clipped pixels in color images
    Di Xu
    Department of Electrical and Computer Engineering, University of British Columbia, Vancouver, BC V6T 1Z4, Canada
    IEEE Trans Vis Comput Graph 17:333-44. 2011
    Conventional images store a very limited dynamic range of brightness. The true luma in the bright area of such images is often lost due to clipping. When clipping changes the R, G, B color ratios of a pixel, color distortion also occurs...
  82. doi Gene-specific and global methylation patterns predict outcome in patients with acute myeloid leukemia
    S Deneberg
    Division of Hematology, Department of Medicine, Karolinska Institutet, Huddinge, Stockholm, Sweden
    Leukemia 24:932-41. 2010
    ..and hypermethylated in cancer 1 (HIC1) promoters and global DNA methylation by luminometric methylation assay (LUMA) was analyzed in 107 AML patients and cytogenetic and molecular mutational analysis was performed...
  83. doi Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease
    Kathy Hodgkinson
    Clinical Epidemiology Unit, Memorial University, Newfoundland, Canada
    Genet Med 11:859-65. 2009
    ..dominant cause of sudden cardiac death in young people, is prevalent in Newfoundland and Labrador (genetic subtype ARVD5). In the absence of implantable cardioverter defibrillator treatment, death rates are extremely high...
  84. doi Mercury-associated DNA hypomethylation in polar bear brains via the LUminometric Methylation Assay: a sensitive method to study epigenetics in wildlife
    J Richard Pilsner
    Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA
    Mol Ecol 19:307-14. 2010
    ..The LUminometric Methylation Assay (LUMA) is permissive for genomic DNA methylation studies of any genome as it relies on the use of methyl-sensitive and -..
  85. doi Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia
    C Barahona-Dussault
    Institut de Cardiologie de Montreal, Montreal, Quebec, Canada
    Clin Genet 77:37-48. 2010
    ....

Research Grants2

  1. Biological Breast Cancer Classification by qRT-PCR
    Matthew Ellis; Fiscal Year: 2009
    ..a breast tumor "intrinsic" gene set has reproducibly identified five distinct subtypes of breast tumors: Luminal A (LumA), Luminal B (LumB), Normal Breast-like (NB), HER2-positive (HER2+) and Basal-like...
  2. Nanoscale approaches to allelic silencing in myocardial disease states
    Euan Ashley; Fiscal Year: 2009
    ..This familial condition where the heart grows too thick is the most common cause of sudden death in young people and athletes. ..