Genomes and Genes
Gene Symbol: TMEM43
Description: transmembrane protein 43
Alias: ARVC5, ARVD5, EDMD7, LUMA
- Molecular genetics and pathogenesis of arrhythmogenic right ventricular cardiomyopathy: a disease of cardiac stem cellsRaffaella 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 ..
- Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23F 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...
- Mercury-associated DNA hypomethylation in polar bear brains via the LUminometric Methylation Assay: a sensitive method to study epigenetics in wildlifeJ 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 -..
- Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic diseaseKathy 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...
- Gene-specific and global methylation patterns predict outcome in patients with acute myeloid leukemiaS 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...
- Correction of clipped pixels in color imagesDi Xu
Department of Electrical and Computer Engineering, University of British Columbia, Vancouver, BC V6T 1Z4, Canada
IEEE Trans Vis Comput Graph 17:333-44. 2011Conventional 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...
- Clinical assessment incorporating a personal genomeEuan 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...
- Clinical efficacy of a bleaching system based on hydrogen peroxide with or without light activationJesús 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...
- Global methylation profiles in DNA from different blood cell typesHui 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...
- Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathyA H Christensen
Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Denmark
Clin Genet 80:256-64. 2011A single report has associated mutations in TMEM43 (LUMA) with a distinctive form of arrhythmogenic right ventricular cardiomyopathy (ARVC)...
- Least-squares luma-chroma demultiplexing algorithm for Bayer demosaickingBrian 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 ..
- Antral lavage using the Luma transilluminaton wire and vortex irrigator--a safe and effective advance in treating pediatric sinusitisJacob 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...
- TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathyWen 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, ..
- 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 intMatthew 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...
- Global DNA methylation analysis using the Luminometric Methylation AssayMohsen 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 ..
- Evidence for non-CpG methylation in mammalsJie 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...
- Mapuche herbal medicine inhibits blood platelet aggregationSusan 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)...
- Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian populationPranathi 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...
- Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasiaC Barahona-Dussault
Institut de Cardiologie de Montreal, Montreal, Quebec, Canada
Clin Genet 77:37-48. 2010....
- Hyperpigmentation: old problem, new therapiesSyril 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...
- Shadow attenuation with high dynamic range images. Creating RGB images that allow feature classification in areas otherwise obscured by shadow or oversaturationSamuel 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 ..
- [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.
- The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14D 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...
- Flavonoids and terpenoids from Luma gayana (Barn.) BurretG 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.
- Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membraneM 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...
- Gateways to clinical trialsM 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.
- SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmiaWilliam 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 (..
- Hydroquinone 4%, tretinoin 0.05%, fluocinolone acetonide 0.01%: a safe and efficacious 12-month treatment for melasmaHelen 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...
- The molecular portraits of breast tumors are conserved across microarray platformsZhiyuan 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...
- A comprehensive review of the long-term and short-term treatment of melasma with a triple combination creamHelen 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...
- LUMA cervical imaging systemJames 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...
- Cost-effectiveness of a fixed combination of hydroquinone/tretinoin/fluocinolone cream compared with hydroquinone alone in the treatment of melasmaTania Cestari
University of Rio Grande do Sul, Porto Alegre, Brazil
J Drugs Dermatol 6:153-60. 2007A once-daily fixed combination of hydroquinone, tretinoin, and fluocinolone acetonide (Tri-luma) is a newly available treatment for melasma.
- Increased detection of high-grade cervical intraepithelial neoplasia utilizing an optical detection system as an adjunct to colposcopyRonald 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...
- LUMA interacts with emerin and influences its distribution at the inner nuclear membraneLuiza Bengtsson
Freie Universitat Berlin, Institut fur Chemie und Biochemie, Thielallee 63, Berlin, Germany
J Cell Sci 121:536-48. 2008We present here a first characterization of LUMA, an unique integral inner nuclear membrane (INM) protein...
- Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 geneNancy D Merner
Faculty of Medicine, Memorial University, St John s, Newfoundland and Labrador A1B 3V6, Canada
Am J Hum Genet 82:809-21. 2008..Bidirectional resequencing showed one rare variant in transmembrane protein 43 (TMEM43 1073C-->T, S358L), was carried on all recombinant ARVD5 ancestral haplotypes from affected subjects and not found ..
- [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...
- [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...
- Gene-specific promoter hypermethylation without global hypomethylation in follicular thyroid cancerJia 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...
- The LINC complex and human diseasePeter 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...
- Biological Breast Cancer Classification by qRT-PCRMatthew Ellis; Fiscal Year: 2007..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...
- Nanoscale approaches to allelic silencing in myocardial disease statesEuan 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. ..
- Novel Biomarkers for Aromatase Inhibitor TherapyMatthew J Ellis; Fiscal Year: 2010....
- Integrative Cardiovascular Biology of Apelin-APJEuan Ashley; Fiscal Year: 2007..The experiments described herein will provide a sound mechanistic basis for the future translation of this body of work to the clinical domain. (End of Abstract) ..
- Novel Biomarkers for Aromatase Inhibitor TherapyMatthew Ellis; Fiscal Year: 2007..abstract_text> ..