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Análisis del gen adra2a receptor alfa 2a adrenergico en pacientes con trastorno de hiperactividad y déficit de atención

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dc.contributor.advisorMateus Arbelaez, Heidi Eliana
dc.contributor.advisorFonseca Mendoza, Dora Janeth
dc.creatorCastro Cuesta, Taryn
dc.creator.degreeMagíster en Ciencias con Énfasis en Genética Humana
dc.date.accessioned2015-01-14T15:52:42Z
dc.date.available2015-01-14T15:52:42Z
dc.date.created2014-12-12
dc.date.issued2014
dc.descriptionEl trastorno de hiperactividad y déficit de atención (THDA), es definido clínicamente como una alteración en el comportamiento, caracterizada por inatención, hiperactividad e impulsividad. Estos aspectos son clasificados en tres subtipos, que son: Inatento, hiperactivo impulsivo y mixto. Clínicamente se describe un espectro amplio que incluye desordenes académicos, trastornos de aprendizaje, déficit cognitivo, trastornos de conducta, personalidad antisocial, pobres relaciones interpersonales y aumento de la ansiedad, que pueden continuar hasta la adultez. A nivel global se ha estimado una prevalencia entre el 1% y el 22%, con amplias variaciones, dadas por la edad, procedencia y características sociales. En Colombia, se han realizado estudios en Bogotá y Antioquia, que han permitido establecer una prevalencia del 5% y 15%, respectivamente. La causa específica no ha sido totalmente esclarecida, sin embargo se ha calculado una heredabilidad cercana al 80% en algunas poblaciones, demostrando el papel fundamental de la genética en la etiología de la enfermedad. Los factores genéticos involucrados se relacionan con cambios neuroquímicos de los sistemas dopaminérgicos, serotoninérgicos y noradrenérgicos, particularmente en los sistemas frontales subcorticales, corteza cerebral prefrontal, en las regiones ventral, medial, dorsolateral y la porción anterior del cíngulo. Basados en los datos de estudios previos que sugieren una herencia poligénica multifactorial, se han realizado esfuerzos continuos en la búsqueda de genes candidatos, a través de diferentes estrategias. Particularmente los receptores Alfa 2 adrenérgicos, se encuentran en la corteza cerebral, cumpliendo funciones de asociación, memoria y es el sitio de acción de fármacos utilizados comúnmente en el tratamiento de este trastorno, siendo esta la principal evidencia de la asociación de este receptor con el desarrollo del THDA. Hasta la fecha se han descrito más de 80 polimorfismos en el gen (ADRA2A), algunos de los cuales se han asociado con la entidad. Sin embargo, los resultados son controversiales y varían según la metodología diagnóstica empleada y la población estudiada, antecedentes y comorbilidades. Este trabajo pretende establecer si las variaciones en la secuencia codificante del gen ADRA2A, podrían relacionarse con el fenotipo del Trastorno de Hiperactividad y el Déficit de Atención.spa
dc.description.abstractAttention deficit hyperactivity disorder (ADHD) is a common neurobehavioral pathology characterized by distinct degrees of inattention, hyperactivity and impulsivity. Although ADHD etiology remains elusive, the ADRA2A candidate gene underlies a particular interest, since it participates in the prefrontal cortex regulation of executive function. Three SNPs located on 5' and 3'UTR regions of the gene have been extensively explored but none of them have been definitely validated as a predisposition or a causative sequence variation. In this study, in order to determine whether ADRA2A non-synonymous sequence variants, resulting in biochemical modifications of the protein, are a common cause of the disease we sequenced the complete ADRA2A coding region in a panel of ADHD children of Colombian origin. We identified the c.1138 C>A (p.Arg380Arg) silent substitution and other three new variants. We conclude that ADRA2A non-synonymous sequence variants do not cause ADHD in our sample population. We cannot formerly discard a potential role of this gene during ADHD pathogenesis since only the coding region was analysed. We hope that these results will encourage further researchers to sequence the promoter and coding regions of ADRA2A in large panels of ADHD patients from distinct ethnical origins.eng
dc.description.sponsorshipUNIVERSIDAD DEL ROSARIOspa
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.48713/10336_9608
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/9608
dc.language.isospa
dc.publisherUniversidad del Rosariospa
dc.publisher.departmentFacultad de medicinaspa
dc.publisher.programMaestría en Ciencias con Énfasis en Genética Humanaspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto completo)spa
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dc.source.bibliographicCitationAguiar, Andréa, Paul a Eubig, and Susan L Schantz, ‘Attention Deficit/hyperactivity Disorder: a Focused Overview for Children’s Environmental Health Researchers.’, Environmental Health Perspectives, 118 (2010), 1646-53 <doi:10.1289/ehp.1002326>.
dc.source.bibliographicCitationAdler, Lenard A.; Spencer, Thomas; Faraone, Stephen V.; Kessler, Ronald C.; Howes, Mary J.; Biederman, Joseph; Secnik, Kristina, ʻValidity of Pilot Adult ADHD Self-Report Scale (ASRS) to Rate Adult ADHD Symptoms.ʼ Annals of Clinical Psychiatry, Vol 18(3), Jul-Sep 2006, 145-148. <doi: 10.1080/10401230600801077>.
dc.source.bibliographicCitationAntonio Juan, Amador Campos, Maria Forns Santacana, y Teresa Kirchner Nebot, ‘La Escala De Inteligencia De Wechsler Para NiñosRevisada’.
dc.source.bibliographicCitationArán, Vanessa, and Filippetti Carlos, ‘Neuropsicología Del Trastorno Por Déficit De Atención / Hiperactividad : Subtipos Predominio Déficit De Atención y Predominio Hiperactivo-Impulsivo’, 28 (2009), 14-28.
dc.source.bibliographicCitationBarbaresi, William J, Jeanine Ransom, and Peter C O Brien, ‘Use and Costs of Medical Care for Children Attention-Deficit / Hyperactivity Disorder’, 285 (2011), 60-66.
dc.source.bibliographicCitationBarkley RA. Developmental course, adult outcome, and clinic-referred ADHD adults. In: Barkley RA, ed. Attention-Deficit Hyperactivity Disorder: A Handbook for Diagnosis and Treatment. 2nd ed. New York, NY: Guilford Press. 1998. 186–224.
dc.source.bibliographicCitationBarr, C L, K Wigg, G Zai, W Roberts, M Malone, R Schachar, and others, ‘Attention-deficit Hyperactivity Disorder and the Adrenergic Receptors Alpha 1C and Alpha 2C.’, Molecular Psychiatry, 6 (2001), 334-7 <doi:10.1038/sj.mp.4000863>
dc.source.bibliographicCitationBará S, Jiménez DA, Vicuña GC, Pineda D, and Henao P, ‘Perfiles Neuropsicológicos y Conductuales De Niños Con Trastorno Por Déficit De Atención / Hiperactividad De Cali , Colombia’, 37 (2003), 608-615.
dc.source.bibliographicCitationBobb, Aaron J., F. Xavier Castellanos, Anjene M. Addington, and Judith L. Rapoport, ‘Molecular Genetic Studies of ADHD: 1991 to 2004’, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 141B (2006), 551-565 <doi:10.1002/ajmg.b.30086>.
dc.source.bibliographicCitationCarmen Lara, John Fayyad, Ron de Graaf, Ronald C. Kessler, Sergio Aguilar-Gaxiola, Matthias Angermeyer, Koen Demytteneare, Giovanni de Girolamo,Josep Maria Haro, Robert Jin, Elie G. Karam, Jean-Pierre Lépine,Maria Elena Medina Mora, Johan Ormel, José Posada-Villa yNancy Sampson,ʻChildhood Predictors of Adult Attention-Deficit/Hyperactivity Disorder: Results from the World Health Organization World Mental Health Survey Initiative.ʼ Biological Psychiatry.Volume 65, Issue 1 , Pages 46-54, 1 January 2009.
dc.source.bibliographicCitationCheon, Keun-Ah, Dae-Yeon Cho, Min-Seong Koo, Dong-Ho Song, and KeeNamkoong, ‘Association Between Homozygosity of a G Allele of the Alpha-2a-adrenergic Receptor Gene and Methylphenidate Response in Korean Children and Adolescents with Attention-deficit/hyperactivity Disorder.’, Biological Psychiatry, 65 (2009), 564-70 <doi:10.1016/j.biopsych.2008.12.003>
dc.source.bibliographicCitationComings, D E, R Gade-Andavolu, N Gonzalez, H Blake, S Wu, and J P MacMurray, ‘Additive Effect of Three Noradrenergic Genes (ADRA2a, ADRA2C, DBH) on Attention-deficit Hyperactivity Disorder and Learning Disabilities in Tourette Syndrome Subjects.’, Clinical Genetics, 55 (1999), 160-72 <http://www.ncbi.nlm.nih.gov/pubmed/10334470>.
dc.source.bibliographicCitationCornejo, J W, O Osío, Y Sánchez, J Carrizosa, G Sánchez, H Grisales, and others, ‘Prevalencia Del Trastorno Por Déficit De Atención-hiperactividad En Niños y Adolescentes Colombianos’, Revista De Neurología, 40 (2005), 716-722.
dc.source.bibliographicCitationCortese S, Faraone SV, Sergeant J, ´Misunderstandings of the genetics and neurobiology of ADHD: Moving beyond anachronism.', Am J Med Genet B Neurophychiatry Genet 156:513-516.
dc.source.bibliographicCitationDoyle, Alysa E, Stephen V Faraone, Larry J Seidman, Erik G Willcutt, Joel T Nigg, Irwin D Waldman, and others, ‘Are Endophenotypes Based on Measures of Executive Functions Useful for Molecular Genetic Studies of ADHD?’, Journal of Child Psychology and Psychiatry, and Allied Disciplines, 46 (2005), 774-803 <doi:10.1111/j.1469-7610.2005.01476.x>.
dc.source.bibliographicCitationFeng, J, J L Sobell, L LHeston, D Goldman, E Cook, H R Kranzler, and others, ‘Variants in the alpha2A AR Adrenergic Receptor Gene in Psychiatric Patients.’, American Journal of Medical Genetics, 81 (1998), 405-10 <http://www.ncbi.nlm.nih.gov/pubmed/9754626>.
dc.source.bibliographicCitationFuemmeler, B F, T Ostbye, C Yang, F J McClernon, and S H Kollins, ‘Association Between Attention-deficit/hyperactivity Disorder Symptoms and Obesity and Hypertension in Early Adulthood: a Population-based Study.’, International Journal of Obesity (2005), 35 (2011), 852-62 <doi:10.1038/ijo.2010.214>
dc.source.bibliographicCitationGizer Ian R., Ficks Courtney and Waldman Irwin. ‘Candidate gene studies of ADHD: A meta-analytic review. ’, Human Genetics (2009) 126: 51-90˂doi: 10.1007/s00439-009-0694-x˃
dc.source.bibliographicCitationHealth, Mental, ‘Attention-Deficit Hyperactivity Disorder (ADHD) in Adults’, ed. by W. Retz and R.G. Klein, 176 (2009).
dc.source.bibliographicCitationInternational HapMap Project-NCBI, disponible en: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?searchType=adhoc_search&type=rs&rs=rs1800038
dc.source.bibliographicCitationJames P. O'donnell, Kathleen k. Mccann, and Steve Pluth, ʻAssessing adult adhd using a self-report symptom checklist.ʼ Psychological Reports: Volume 88, (2001) issue , pp. 871-881. <doi: 10.2466/pr0.2001.88.3.871>.
dc.source.bibliographicCitationJewell-Motz, E a, K M Small, C T Theiss, and S B Liggett, ‘Alpha 2A/alpha 2C-adrenergic Receptor Third Loop Chimera Show That Agonist Interaction with Receptor Subtype Backbone Establishes G Protein-coupled Receptor Kinase Phosphorylation.’, The Journal of Biological Chemistry, 275 (2000), 28989-93 <doi:10.1074/jbc.M005381200>.
dc.source.bibliographicCitationJT McCracken, KK Badashova, DJ Posey, MG Aman, L Scahill, Etierney, LE Arnold, B Vitiello, F Whelan, SZ Chuang, M Davies, B Shah, CJ McDougle and EL Nurmi, 'Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders.
dc.source.bibliographicCitationKathleen M Egan, Jeannine Abruzzo, Polly A Newcomb, Linda Titus-ernstoff, Tracie Franklin, and others, ‘Collection of Genomic DNA from Adults in Epidemiological Studies By’, 10 (2001), 687-696.
dc.source.bibliographicCitationKessler, Ronald C, Patricia A Berglund, Martha L Bruce, J Randy, Eugene M Laska, Philipj Leaf, and others, ‘Articles The Prevalence and Correlates of Untreated Serious Mental Illness’, HSR: Health Services Research, 1999, 987-1007.
dc.source.bibliographicCitationKim, Boong-Nyun, Jae-Won Kim, Hyejin Kang, Soo-Churl Cho, Min-Sup Shin, Hee-JeongYoo, and others, ‘Regional Differences in Cerebral Perfusion Associated with the alpha-2A-adrenergic Receptor Genotypes in Attention Deficit Hyperactivity Disorder.’, Journal of Psychiatry & Neuroscience : JPN, 35 (2010), 330-6 <doi:10.1503/jpn.090168>.
dc.source.bibliographicCitationKonrad, Kerstin, and Simon B Eickhoff, ‘Is the ADHD Brain Wired Differently? A Review on Structural and Functional Connectivity in Attention Deficit Hyperactivity Disorder.’, Human Brain Mapping, 31 (2010), 904-16 <doi:10.1002/hbm.21058>.
dc.source.bibliographicCitationKurnik, Daniel, ‘Effects of Variation in the Human α2A- and α2C-adrenoceptor Genes on Cognitive Tasks and Pain Perception’, Eur J Pain., 14 (2011), 1-13 <doi:10.1016/j.ejpain.2009.04.003.Effects>.
dc.source.bibliographicCitationLee, Patti P, Wendy Sharp, Neal O Jeffries, Deanna K Greenstein, Liv S Clasen, Jonathan D Blumenthal, and others, ‘Of Brain Volume Abnormalities in Children and Adolescents With Attention-Deficit / Hyperactivity Disorder’, Jama, 288 (2002), 1740-1748.
dc.source.bibliographicCitationLefkowitz, R J, and M G Caron, ‘Regulation of Adrenergic Receptor Function by Phosphorylation.’,Current Topics in Cellular Regulation, 28 (1986), 209-31 <http://www.ncbi.nlm.nih.gov/pubmed/3029101>.
dc.source.bibliographicCitationLi Yang, Qiujin Quian, Lu Liu, Haimei Li, Stephen V. Faraone, Yufeng Wang, 'Adrenergic neurotransmitter system transporter and receptor genes associated with atomoxetine response in attention-deficit hyperactivity disorder children.', J Neural Transm (2013) 120:1127-1133.
dc.source.bibliographicCitationLum, a, and L Le Marchand, ‘A Simple Mouthwash Method for Obtaining Genomic DNA in Molecular Epidemiological Studies.’, Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 7 (1998), 719-24 <http://www.ncbi.nlm.nih.gov/pubmed/9718225>.
dc.source.bibliographicCitationM, Alfonso Urzúa, Marcos Domic S, Andrea Cerda C, Mireya Ramos B, and Jael Quiroz E, ‘Trastorno Por Déficit De Atención Con Hiperactividad En Niños Escolarizados’, 80 (2009), 332-338.
dc.source.bibliographicCitationMartijn Arns, Kristiaan B. van der Heijden, L. Eugene Arnold and J. Leon Kenemans, 'Geographic variation in the prevalence of attention-Deficit/Hyperactivity disorder: The sunny perspective.', Biol Psychiatry 2013; <doi:10.1016/j.biopsych.2013.02.010>
dc.source.bibliographicCitationMcClendon, Debra T, Jared S Warren, Katherine M Green, Gary M Burlingame, Dennis L Eggett, and Richard J McClendon, ‘Sensitivity to Change of Youth Treatment Outcome Measures: a Comparison of the CBCL, BASC-2, and Y-OQ.’, Journal of Clinical Psychology, 67 (2011), 111-25 <doi:10.1002/jclp.20746>.
dc.source.bibliographicCitationMerrell, Kenneth W., Richard L. Blade, Jacqueline Lund, and Kari K.G. Kempf, ‘Convergent and Discriminant Construct Validity of the Internalizing Symptoms Scale for Children with the BASC-SRP-C’, Psychology in the Schools, 40 (2003), 139-144 <doi:10.1002/pits.10076>.
dc.source.bibliographicCitationMiller, S. A.; Dykes, D. D.; Polesky, H. F. ʻA simple salting out procedure for extracting DNA from human nucleated cellsʼ, Nucl. Acids Res. (1988)16 (3):1215.
dc.source.bibliographicCitationMulas, F, M Téllez De Meneses, S Hernández-muela, L Mattos, and I Pitarch, ‘TrastornoPorDéficit De Atención e Hiperactividad y Epilepsia’, Revista De Neurologia Valencia España, 39 (2004), 192-195.
dc.source.bibliographicCitationMulot, Claire, Isabelle Stücker, Jacqueline Clavel, Philippe Beaune, and Marie-Anne Loriot, ‘Collection of Human Genomic DNA from Buccal Cells for Genetics Studies: Comparison BetweenCytobrush, Mouthwash, and Treated Card.’, Journal of Biomedicine & Biotechnology, 2005 (2005), 291-6 <doi:10.1155/JBB.2005.291>.
dc.source.bibliographicCitationMutPred Server. Disponible en: http://mutpred.mutdb.org/index.html
dc.source.bibliographicCitationNagel, Bonnie J, DeeptiBathula, Megan Herting, Colleen Schmitt, Christopher D Kroenke, Damien Fair, and others, ‘Altered White Matter Microstructure in Children with Attention Deficit/Hyperactivity Disorder’, 2012, pp. 1-15 <doi:10.1016/j.jaac.2010.12.003.Altered>.
dc.source.bibliographicCitationNeale, Benjamin M, Sarah E Medland, Stephan Ripke, Philip Asherson, Barbara Franke, Klaus-peter Lesch, and others, ‘Meta-analysis of Genome-wide Association Studies of Attention Deficit/hyperactivity Disorder’, J Am Acad Child Adolesc Psychiatry., 49 (2011), 1-23 <doi:10.1016/j.jaac.2010.06.008.Meta-analysis>.
dc.source.bibliographicCitationNovoSNP disponible en: http://www.molgen.ua.ac.be/bioinfo/novosnp/.
dc.source.bibliographicCitationPark, L, J T Nigg, I D Waldman, K a Nummy, C Huang-Pollock, M Rappley, and others, ‘Association and Linkage of alpha-2A Adrenergic Receptor Gene Polymorphisms with Childhood ADHD.’, Molecular Psychiatry, 10 (2005), 572-80 <doi:10.1038/sj.mp.4001605>.
dc.source.bibliographicCitationPhilipp, Melanie, Marc Brede, and Lutz Hein, ‘Physiological Significance of Alpha(2)-adrenergic Receptor Subtype Diversity: One Receptor Is Not Enough.’, American Journal of Physiology. Regulatory, Integrative and Comparative Physiology, 283 (2002), R287-95 <doi:10.1152/ajpregu.00123.2002>.
dc.source.bibliographicCitationPineda DA, Lopera GC, Palacio JD, Henao P. 'Prevalencia del trastorno por déficit de atención en una comunidad colombiuana.', Rev Neurología. 2001; 33:2-17.
dc.source.bibliographicCitationPolanczyk Guilherme, Silva de Lima Mauricio, Lessa Horta Bernardo, Biederman Joseph and Rohde Luis Augusto, ‘The Worldwide Prevalence of ADHD: A Sistematic Review and Metaregression Analysis.’,Am J Phychiatry 2007; 164:942-948. <http://www.ajp.phychiatryonline.org>.
dc.source.bibliographicCitationPrediction of functional effects of human nsSNPs (Database PolyPhen-2) Disponible en : http://genetics.bwh.harvard.edu/pph2/.
dc.source.bibliographicCitationPsychiatric, The, Gwas Consortium, and Steering Committee, ‘A Framework for Interpreting Genome-wide Association Studies of Psychiatric Disorders.’, Molecular Psychiatry, 14 (2009), 10-7 <doi:10.1038/mp.2008.126>.
dc.source.bibliographicCitationRasmussen, Erik R, Rosalind J Neuman, Andrew C Heath, Florence Levy, David a Hay, and Richard D Todd, ‘Familial Clustering of Latent Class and DSM-IV Defined Attention-deficit/hyperactivity Disorder (ADHD) Subtypes.’, Journal of Child Psychology and Psychiatry, and Allied Disciplines, 45 (2004), 589-98 <http://www.ncbi.nlm.nih.gov/pubmed/15055377>.
dc.source.bibliographicCitationReilly, Colin, and Niamh Holland, ‘Symptoms of Attention Deficit Hyperactivity Disorder in Children and Adults with Intellectual Disability : A Review’, 2011, 291-309.
dc.source.bibliographicCitationRen, Quen, Hitoshi Kurose, Robert J Lefkowitzs, and Susanna Cotecchiag, ‘Constitutively Active Mutants of the az-Adrenergic Receptor.’, 268 (1993), 16483-16487.
dc.source.bibliographicCitationRisueño Alicia E, ‘Aportes De La Neuropsicología Dinámica Integral Al Diagnóstico y Tratamiento Del Adhd. ∗’, Rev PsiquiatrPsicol Niño y Adolesc,, 4 (2001), 79-87.
dc.source.bibliographicCitationRommelse, Nanda Nj, Marieke E Altink, Neilson C Martin, CathelijneJmBuschgens, Stephen V Faraone, Jan K Buitelaar, and others, ‘Relationship Between Endophenotype and Phenotype in ADHD.’, Behavioral and Brain Functions : BBF, 4 (2008), 4 <doi:10.1186/1744-9081-4-4>.
dc.source.bibliographicCitationSchramm, N L, M P McDonald, and L E Limbird, ‘The Alpha(2a)-adrenergic Receptor Plays a Protective Role in Mouse Behavioral Models of Depression and Anxiety.’, The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 21 (2001), 4875-82 <http://www.ncbi.nlm.nih.gov/pubmed/11425914>.
dc.source.bibliographicCitationSherman, D K, M K McGue, and W G Iacono, ‘Twin Concordance for Attention Deficit Hyperactivity Disorder: a Comparison of Teachers’ and Mothers' Reports.’, The American Journal of Psychiatry, 154 (1997), 532-5 <http://www.ncbi.nlm.nih.gov/pubmed/9090341>.
dc.source.bibliographicCitationSkounti Maria, Philalithis Anastas and Galanakis Emmanouil, ‘Variations in prevalence of attention deficit hyperactivity disorder worldwide.’, Eur J Pediatr (2007) 166:117-123 <doi:10.1007/s00431-006-0299-5>
dc.source.bibliographicCitationSmall, Kersten M, Kari M Brown, Carrie a Seman, Cheryl T Theiss, and Stephen B Liggett, ‘Complex Haplotypes Derived from Noncoding Polymorphisms of the Intronless alpha2A-adrenergic Gene Diversify Receptor Expression.’, Proceedings of the National Academy of Sciences of the United States of America, 103 (2006), 5472-7 <doi:10.1073/pnas.0601345103>.
dc.source.bibliographicCitationSorting intolerant from tolerant (SIFT Database) disponible en: http://sift.bii.a-star.edu.sg/.
dc.source.bibliographicCitationStevenson, J, K Langley, H Pay, a Payton, J Worthington, W Ollier, and others, ‘Attention Deficit Hyperactivity Disorder with Reading Disabilities: Preliminary Genetic Findings on the Involvement of the ADRA2A Gene.’, Journal of Child Psychology and Psychiatry, and Allied Disciplines, 46 (2005), 1081-8 <doi:10.1111/j.1469-7610.2005.01533.x>.
dc.source.bibliographicCitationStill George F, ´Some Abnormal Psychical Conditions in Children: Excerpts from Three Lectures.´ Journal of Attention Disorders, v10 n2 p126-136 2006.
dc.source.bibliographicCitationTalmud, P J, J a Cooper, T Gaunt, M V Holmes, S Shah, J Palmen, and others, ‘Variants of ADRA2A Are Associated with Fasting Glucose, Blood Pressure, Body Mass Index and Type 2 Diabetes Risk: Meta-analysis of Four Prospective Studies.’, Diabetologia, 54 (2011), 1710-9 <doi:10.1007/s00125-011-2108-6>.
dc.source.bibliographicCitationVakil Eli, Greenstein Yoram and Blashstein Haya, ´Normative data for composite scores for children and adults derived from de Rey auditory verbal learning test.´ The Clinical Neuropsychologist, 24: 662-677, 2010.
dc.source.bibliographicCitationVelez-Alvarez Consuelo y Jose A Vidarte Claros, ‘Trastorno por déficit de atención en hiperactividad THDA, una problemática a abordar en la política pública de primera infancia en Colombia.’, Revista de salud pública, 14 sup (2): 113-128, 2012.
dc.source.bibliographicCitationVélez-van-Meerbeke A, Claudia Talero Gutiérrez, Rodrigo González Reyes, and Milciades Ibáñez Pinilla, ‘School Students in Bogotá-Colombia Artículo Original’, Acta Neurologia Colombiana, 24 (2008).
dc.source.bibliographicCitationVélez-van-Meerbeke A, IP Zamora, G. Guzmán, B. Figueroa, C.A. Lopez Cabra, C. Talero-Gutierrez, 'Evaluating executive function in shool children with symptoms of attention deficit hyperactivity disorder.' Artículo original, Neurologia.2013; 28:348-55
dc.source.bibliographicCitationVidarte JA, Ezquerro M, Giraldez MA, 'Perfil psicomotor de niños de 5 a 12 años diagnosticados clinicamente con THDA en Colombia. Rev Neurologia 2009; 49(2):69-75.
dc.source.bibliographicCitationWalker, a H, D Najarian, D L White, J F Jaffe, P a Kanetsky, and T R Rebbeck, ‘Collection of Genomic DNA by Buccal Swabs for Polymerase Chain Reaction-based Biomarker Assays.’, Environmental Health Perspectives, 107 (1999), 517-20 <http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1566681&tool=pmcentrez&rendertype=abstract>.
dc.source.bibliographicCitationWasserman RC, Kelleher KJ, Bocian A, Childs GE, Indacochea F, Stulp C and Gardner WP, ´Identification of attentional and hyperactivity problems in primary care: a report from pediatric research in office settings and the ambulatory sentinel practice network.´ Pediatrics 1999, Mar 103(3): E38
dc.source.bibliographicCitationWang, Qin, and Lee E Limbird, ‘Regulated Interactions of the Alpha 2A Adrenergic Receptor with Spinophilin, 14-3-3zeta, and Arrestin3.’,The Journal of Biological Chemistry, 277 (2002), 50589-96 <doi:10.1074/jbc.M208503200>.
dc.source.bibliographicCitationWilson, M H, H a Highfield, and L E Limbird, ‘The Role of a Conserved Inter-transmembrane Domain Interface in Regulating Alpha(2a)-adrenergic Receptor Conformational Stability and Cell-surface Turnover.’, Molecular Pharmacology, 59 (2001), 929-38 <http://www.ncbi.nlm.nih.gov/pubmed/11259639>.
dc.source.bibliographicCitation‘The Role of a Conserved Inter-transmembrane Domain Interface in Regulating Alpha(2a)-adrenergic Receptor Conformational Stability and Cell-surface Turnover.’, Molecular Pharmacology, 59 (2001), 929-38 <http://www.ncbi.nlm.nih.gov/pubmed/11259639>.
dc.source.bibliographicCitationʻPsychoactive substance use disorders in adults with attention deficit hyperactivity disorder (ADHD): Effects of ADHD and psychiatric comorbidity.ʼ American journal psychiatry 1995; 152:1652-1658.
dc.source.bibliographicCitationXenitidis, K, Elena Paliokosta, E Rose, S Maltezos, and J Bramham, ‘ADHD Symptom Presentation and Trajectory in Adults with Borderline and Mild Intellectual Disability.’, Journal of Intellectual Disability Research : JIDR, 54 (2010), 668-77 <doi:10.1111/j.1365-2788.2010.01270.x>.
dc.source.bibliographicCitationZabel, U, J Vilardaga, H Schindelin, M J Lohse, and C Hoffmann, ‘Fluorescence Resonance Energy Transfer Analysis of ␣ 2a -Adrenergic Receptor Activation Reveals Distinct Agonist-Specific Conformational Changes’, 75 (2009), 534-541 <doi:10.1124/mol.108.052399.switch>.
dc.source.bibliographicCitationZiarih Hawi, Natasha Matthews, Edwina Barry, Aiveen Kirley, Joseph Wagner, Robyn H. Wallace, Helen S. Heussler, Alasdair Vance, Michael Gill, Mark A. Bellgrove, ' A high density linkage disequilibrium mapping in 14 noradrenergic genes: evidence of association between SLC6A2, ADRA1B and ADHD.', Psychopharmacology 2013; 225:895-902.
dc.source.bibliographicCitationCastro Taryn, Mateus Heidi Eliana, Fonseca Dora, Forero Diego, Restrepo Carlos Martin, Talero Claudia, Vélez-van-Meerbeke A, Laissue Paul. ´ Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder.´Neurol Sci. 2013 Dec;34(12):2219-22. doi: 10.1007/s10072-013-1569-4. Epub 2013 Nov 1.
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subjectRECEPTOR ADRENERGICOspa
dc.subjectHIPERACTIVIDADspa
dc.subjectDEFICIT DE ATENCIONspa
dc.subject.ddcEnfermedades
dc.subject.decsGenéticaspa
dc.subject.decsgen adra2aspa
dc.subject.decsTrastorno por Déficit de Atención con Hiperactividadspa
dc.subject.keywordAttention deficiteng
dc.subject.keywordhyperactivity disordereng
dc.subject.keywordadrenergic receptoreng
dc.titleAnálisis del gen adra2a receptor alfa 2a adrenergico en pacientes con trastorno de hiperactividad y déficit de atenciónspa
dc.typemasterThesiseng
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.type.spaTesis de maestríaspa
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Maestría en Genética Humana