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1Academic Journal
المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2020 8
مصطلحات موضوعية: hearing loss, mucopolysaccharidosis, otitis media, otorhinolaryngological findings
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2Academic Journal
المؤلفون: Ardila-Marín, Mariana, Barragan-Acosta, Alexander, Arturo-Terranova, Daniela, Satizabal-Soto, José María
المصدر: REVISTA DE LA ASOCIACION COLOMBIANA DE CIENCIAS BIOLOGICAS; Vol. 1 Núm. 36 (2024): REVISTA DE LA ASOCIACIÓN COLOMBIANA DE CIENCIAS BIOLÓGICAS 2023; 118-125 ; 2500-7459 ; 0120-4173
مصطلحات موضوعية: Computational Biology, Oxidative Phosphorylation, Mitochondrial Diseases, Precision Medicine, Exome Sequencing, Variants. (DeCs), Biología computacional, Enfermedades mitocondriales, Fosforilación oxidativa, Medicina de Precisión, Secuenciación del exoma, Variantes. (DeCs)
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Relation: https://www.revistaaccb.org/r/index.php/accb/article/view/310/289; https://www.revistaaccb.org/r/index.php/accb/article/view/310
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3Academic Journal
المصدر: REVISTA DE LA ASOCIACION COLOMBIANA DE CIENCIAS BIOLOGICAS; Vol. 1 Núm. 36 (2024): REVISTA DE LA ASOCIACIÓN COLOMBIANA DE CIENCIAS BIOLÓGICAS 2023; 57-76 ; 2500-7459 ; 0120-4173
مصطلحات موضوعية: Caracterización, enfermedad de Gaucher tipo 1, enfermedades de almacenamiento lisosomal, Multimodalidad, Medicina de precisión, Terapia, lysosomal storage diseases, Multimodality, Precision medicine, Therapy, Characterization, Gaucher disease type 1
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Relation: https://www.revistaaccb.org/r/index.php/accb/article/view/308/286; https://www.revistaaccb.org/r/index.php/accb/article/view/308
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4Academic Journal
المصدر: Heliyon ; volume 10, issue 1, page e23678 ; ISSN 2405-8440
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5Academic Journal
المؤلفون: Pusapaz Pusapaz, Daniela Estefania, Arturo Terranova, Maria Camila, Arturo Terranova, Daniela
المصدر: Revista Med; Vol. 29 No. 2 (2021): july - december; 93-106 ; Revista Med; Vol. 29 Núm. 2 (2021): julio - diciembre; 93-106 ; 1909-7700 ; 0121-5256
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DOI: https://doi.org/10.17126/joralres.2013.008; Pérez AC, Duque EA. Incidencia y/o prevalencia del LPH en el continente europeo. Pap Knowl Towar a Media Hist Doc. 2019.; Serrano C, Ruiz J, Quinceno L, Rodríguez M. Labio y/o paladar hendido: una revisión*. Ustasalud. 2009; 8:44- 52. DOI: https://doi.org/10.15332/us.v8i1.1180; Plasencia-Dueñas EA, Díaz-Vélez C, Dueñas-Roque MM. Factores asociados a la presencia de fisura labio- palatina en recién nacidos en un hospital peruano de tercer nivel de atención. Un estudio de casos y controles. Acta méd. Perú 2020; 37(3):304-311. DOI: https://doi.org/10.35663/amp.2020.373.942; Sánchez LR. Prevalencia de pacientes con fisuras oro- faciales y factores familiares asociados en el Hospital Regional Docente Las Mercedes Chiclayo 2016. Rev Cient Epistemia. 2018;2. http://revistas.uss.edu.pe/index.php/EPT/article/view/799/680 DOI: https://doi. org/10.26495/re.v2i1.799; Berryhill W. Otologic Concerns for Cleft Lip and Pa- late Patient. 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DOI: https://doi.org/10.1093/hmg/4.8.1387; Lin Y, Gao H, Ai S, Eswarakumar J, Zhu Y, Chen C, Li T, Liu B, Jiang H, Liu Y, Li Y, Wu Q, Li H, Liang X, Jin C, Huang X, Lin L. FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. Molecular medicine reports. 2017; 16(5):5841-5846. DOI: https://doi.org/10.3892/mmr.2017.7397; Packham EA, Brook JD. T-box genes in human disorders. Hum Mol Genet. 2003; 12 (Spec n.° 1):R37-44. DOI: https://doi.org/10.1093/hmg/ddg077; Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature. 1994; 372(6506):525-530. DOI: https://doi.org/10.1038/372525a0; Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G. 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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet. 2001 Feb 1; 10(3):221-9. DOI: https://doi.org/10.1093/hmg/10.3.221; Roessler E, Belloni E, Gaudenz K, Jay P, Ber- ta P, Scherer SW, Tsui LC, Muenke M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 1996; 14(3):357-360. DOI: https://doi.org/10.1038/ng1196-357; Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA. 2003; 100(23):13424-13429. DOI: https://doi.org/10.1073/pnas.2235734100; Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH,Rommens J, Muenke M. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999; 22(2):196-198. 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Oculofaciocardio dental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004; 36(4):411-416. DOI: https://doi.org/10.1038/ng1321; Tiol MA, Maldonado ZN, Tiol CA, Esparza RN, Gar- cía RE. Reporte de dos casos del síndrome óculo-facio-cardio-dental (OFCD) en madre e hija. Rev Mex Cir Bucal Maxilofacial. 2017; 13(1):20-24.; Fontanella B, Russolillo G, Meroni G. MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Hum Mutat. 2008 May;29(5):584-94. DOI: https://doi.org/10.1002/humu.20706; AlKattan WM, Al-Qattan MM, Bafaqeeh SA. The pathogenesis of the clinical features of oral-facial-digital syndrome type I. Saudi medical journal. 2015;36(11):1277-1284. DOI: https://doi.org/10.15537/smj.2015.11.12446; Braybrook C, Doudney K, Marcano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet. 2001;29(2):179-183. 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Association of the GABRB3 gene with nonsyndromic oral clefts. Cleft Palate Craniofac J. 2008 May; 45(3):261-6. DOI: https://doi.org/10.1597/06-142; Suazo J, Santos JL, Scapoli L, Jara L, Blanco R. Association between TGFB3 and nonsyndromic cleft lip with or without cleft palate in a Chilean population. Cleft Palate Craniofac J. 2010 Sep; 47(5):513-7. DOI: https://doi.org/10.1597/09-015; Piceci F, Morlino S, Castori M, Buffone E, De Luca A, Grammatico P, Guida V. Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. Clin Genet. 2017 May; 91(5):774-779. DOI: https://doi.org/10.1111/cge.12845; Saleem K, Zaib T, Sunab W, Fu S. Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate. Cellpress. 2019; 5(12). 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6Academic Journal
المصدر: Iatreia; Vol. 36 No. 2-S (2023) ; Iatreia; Vol. 36 Núm. 2-S (2023) ; 2011-7965 ; 0121-0793
مصطلحات موضوعية: Genes, Gene Frequency, Genetic Phenomena, Heart Defects, Congenital, Congenital Anomalies, Cardiopatías Congénitas, Fenómenos Genéticos, Frecuencia de los Genes, anomalia congenita
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7Academic Journal
المؤلفون: Pusapaz Pusapaz, Daniela Estefania, Arturo Terranova, Maria Camila, Arturo Terranova, Daniela
المصدر: Revista Med; Vol. 29 No. 2 (2021): july - december; 93-106 ; Revista Med; Vol. 29 Núm. 2 (2021): julio - diciembre; 93-106 ; 1909-7700 ; 0121-5256
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8Academic Journal
المؤلفون: Moreno-Giraldo, Lina Johanna, Estela-Zape, José Luis, Arturo-Terranova, Daniela, Satizábal-Soto, José María
المصدر: REVISTA DE LA ASOCIACION COLOMBIANA DE CIENCIAS BIOLOGICAS; Vol. 1 Núm. 34 (2022): REVISTA DE LA ASOCIACIÓN COLOMBIANA DE CIENCIAS BIOLÓGICAS 2022; 10-17 ; 2500-7459 ; 0120-4173
مصطلحات موضوعية: Computational Biology, type III glycogen storage disease, glycogenolysis, Biología Computacional, enfermedad del almacenamiento de glucógeno de tipo III, glucogenólisis, secuenciación de exoma completo, sistema de la enzima desramificadora del glucógeno, variantes. (DeCS), whole-exome sequencing, glycogen debranching enzyme system, variants. (WES), (DeCs)
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Relation: https://www.revistaaccb.org/r/index.php/accb/article/view/252/233; https://www.revistaaccb.org/r/index.php/accb/article/view/252
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9Academic Journal
المصدر: Revista Med; Vol. 27 No. 2 (2019): july - december; 73-84 ; Revista Med; Vol. 27 Núm. 2 (2019): julio - diciembre; 73-84 ; 1909-7700 ; 0121-5256
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Relation: http://revistas.unimilitar.edu.co/index.php/rmed/article/view/3784/3946; http://revistas.unimilitar.edu.co/index.php/rmed/article/view/3784/4114; Zerbino D , Achuthan P, Akanni W, Amode R , Barrell D, Bhai J ,et al. Ensembl 2018. PubMed PMID: 29155950. doi:10.1093/nar/gkx1098; Corredor A, Hernandez- Rodriguez MJ, Martinez-Villanueva J, Muñoz-Calvo MT, Argente J. Severe low growth and 2q37 syndrome. An Pediatric (Barc) 2016; 84(2):116-7; Sperry E, Schuatte, Martin D. Duplication 2p25 in a child with clinical features of CHARGE syndrome. Am J Med Genet A. 2016; 170A (5) :1148-1154; Genetic Home Reference (GHR). 2q37 deletion syndrome; 2018.[Acceso 12 de septiembre de 2018] U.S Department of Health & Human Services. [Acceso: Disponible en : https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome#synonyms; Doherty ES, Lacbawan FL. 2q37 Microdeletion Syndrome. Gene Reviews. 2013. University of Washington, Seattle. [Acceso 11 de septiembre de 2018] . Disponible en : https://www.ncbi.nlm.nih.gov/books/NBK1158/; Genetic and Rare Diseases Information Center (GARD). Síndrome de Microdeleción 2q37. 2013. [Acceso 12 de septiembre de 2018] . Disponible en: https://rarediseases.info.nih.gov/espanol/13267/sindrome-de-microdelecion-2q37; Martínez-Juárez A, Uribe-Figueroa L, Quintana-Palma M, Razo-Aguilera G, Sevilla-Montoya R. Pure trisomy 2p syndrome in two siblings with an unbalanced translocation and minimal terminal 12q monosomy characterized by high-density microarray. Cytogenet Genome Res. 2014; 142(4):249-54.; Buizer-Voskamp JE, Muntjewerff JW, Strengman E, Sabatti C, Stefansson H, Vorstman JA. Genome-wide analysis shows increased frequency of copy number variation deletions in dutch schizophrenia patients. Biol Psychiatry. 2011;70(7):655–62.; Vrijenhoek, T., Buizer-Voskamp, J., van der Stelt, I., Strengman, E., Sabatti, C., & Geurts van Kessel, A. Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients. Am J Hum Genet. 2008; 83(4):504-10; Addington AM, Rapoport JL. The genetics of childhood-onset schizophrenia: when madness strikes the prepubescent. Curr Psychiatry Rep. 2009;11(2):156–61.; Lee Y, Mattai A, Long R, Rapoport JL, Gogtay N, Addington A. Microduplications disrupting the MYT1L gene (2p25.3.) Psychiatric Genetics . 2012; 206–209.; Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet. 2006;43:843–9.; Lacbawan F, Jones M, Dutra A, Chandrasekharappa S, Doherty ES. Chromosome 2q37 deletion syndrome: defining clinical features. 2006 Abstract 869. New Orleans, LA: American Society of Human Genetics Annual Meeting; Villavicienco-Lorini .Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European Journal of Human Genetics. 2013; 21: 743-748.; Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 2003 ;72:1047; Williams A. Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems. American Journal of Human Genetics. 2010; 87: 219–228; Tomita T , Kurita R, Onishi Y. Epigenetic regulation of the circadian clock : Role of 5-aza-2’-deoxycitidine. Biosci rep. 2017; 37(3) doi:10.1042/BSR20170053; Correa, F. A., Jorge, A. A., Nakaguma, M., Canton, A. P., Costa, S. S., Funari, M. F., Mendonca, B. B. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. Clinical Endocrinology, 2018;88(3),425–431.; http://revistas.unimilitar.edu.co/index.php/rmed/article/view/3784
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10Academic Journal
المؤلفون: Arturo-Terranova, Daniela, Moreno Giraldo , Lina Johanna, Idrobo, Henry, Satizabal, José María
المصدر: REVISTA DE LA ASOCIACION COLOMBIANA DE CIENCIAS BIOLOGICAS; Vol. 1 Núm. 32 (2020): Revista de la Asociación Colombiana de Ciencias Biológicas ; 115-123 ; 2500-7459 ; 0120-4173
مصطلحات موضوعية: Computational Biology, Enzyme Deficiency, Lysosomal Storage Diseases, Sequencing, Variants (DeCS), Gaucher Disease, Biología Computacional, Secuenciación, Deficiencia enzimática, Enfermedad de Gaucher, Enfermedades por Almacenamiento Lisosomal, Variantes (DeCS)
وصف الملف: application/pdf
Relation: https://www.revistaaccb.org/r/index.php/accb/article/view/214/198; https://www.revistaaccb.org/r/index.php/accb/article/view/214
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11Academic Journal
Alternate Title: New variants in the TMEM126B gene associated with complex I dehydrogenase deficiency identified in a pediatric patient from southwestern of Colombia. (English)
المؤلفون: Ardila-Marín, Mariana, Barragan-Acosta, Alexander, Arturo-Terranova, Daniela, María Satizabal-Soto, José
المصدر: Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB); 2024, Vol. 1 Issue 36, p118-125, 8p
مصطلحات موضوعية: GENETIC variation, GENE families, HYPERTROPHIC cardiomyopathy, MUSCLE weakness, GENE regulatory networks, BIOINFORMATICS software
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12Academic Journal
Alternate Title: Demographic, clinical, paraclinical and molecular characterization of patients with Gaucher disease type 1 in southwestern Colombia. (English)
المصدر: Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB); 2024, Vol. 1 Issue 36, p57-76, 20p
مصطلحات موضوعية: ENZYME replacement therapy, GAUCHER'S disease, BLOOD diseases, ENZYME deficiency, LYSOSOMAL storage diseases
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13Dissertation/ Thesis
مصطلحات موضوعية: Cardiopatías congénitas, Bioinformática, Genética humana, In silico, Secuenciación del exoma
وصف الملف: 1 recurso en línea (27 páginas); application/pdf
Relation: https://hdl.handle.net/10893/29202
الاتاحة: https://hdl.handle.net/10893/29202
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14
المؤلفون: Pusapaz Pusapaz, Daniela Estefania, Arturo Terranova, Maria Camila, Arturo Terranova, Daniela
المصدر: Revista Med; Vol. 29 No. 2 (2021): july-december; 93-106
Revista Med; Vol. 29 Núm. 2 (2021): julio-diciembre; 93-106وصف الملف: application/pdf; text/xml
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15
المؤلفون: Arturo Terranova, Daniela
المساهمون: Satizabal Soto, Jose Maria, Moreno Giraldo, Lina Johanna
المصدر: Repositorio Digital Univalle
Universidad del Valle
instacron:Universidad del Valleمصطلحات موضوعية: Biología molecular, Genética molecular, Heterogeneidad, Enfermedad de Gaucher, Biología computacional
وصف الملف: 1 recurso en línea (113 páginas); application/pdf
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16
المصدر: Biomédica, Volume: 40 Supplement 1, Pages: 76-88, Published: 20 AUG 2020
مصطلحات موضوعية: filogenia, boca, hemic and lymphatic diseases, adolescent, adolescente, infecciones por virus de Epstein-Barr, Colombia, Epstein-Barr virus infections, mouth, phylogeny
وصف الملف: text/html
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17
المصدر: Revista Med; Vol. 27 No. 2 (2019): july-december; 73-84
Revista Med; Vol. 27 Núm. 2 (2019): julio-diciembre; 73-84وصف الملف: text/xml; application/pdf
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18Electronic Resource
المؤلفون: Pusapaz Pusapaz, Daniela Estefania, Arturo Terranova, Maria Camila, Arturo Terranova, Daniela
المصدر: Revista Med de la Facultad de Medicina, ISSN 1909-7700, Vol. 29, Nº. 2, 2021 (Ejemplar dedicado a: july - december), pags. 93-106
مصطلحات الفهرس: text (article)
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19Academic Journal
المصدر: Biomedica; Vol. 40 No. Supl. 1 (2020): Mayo, Infecciones en el trópico; 76-88 ; Biomédica; Vol. 40 Núm. Supl. 1 (2020): Mayo, Infecciones en el trópico; 76-88 ; 2590-7379 ; 0120-4157
مصطلحات موضوعية: Epstein-Barr virus infections, mouth, phylogeny, adolescent, Colombia, infecciones por virus de Epstein-Barr, boca, filogenia, adolescente
وصف الملف: application/pdf; text/xml
Relation: https://revistabiomedica.org/index.php/biomedica/article/view/4917/4457; https://revistabiomedica.org/index.php/biomedica/article/view/4917/4622; Epstein MA, Achong BG, Barr YM. Virus particles in cultured lymphoblasts from Burkitt’s lymphoma. Lancet. 1964;1:702-3. https://doi.org/10.1016/S0140-6736(64)91524-7; Rickinson A, Kieff E. Epstein Barr virus. In: Knipe DM, Howley PM, editors. Fields virology. 5th edition. Philadelphia: Lippincott Williams & Wilkins; 2007. p. 2655-700.; Higgins CD, Swerdlow AJ, Macsween KF, Harrison N, Williamns H, McAulay K, et al. A study of risk factors for acquisition of Epstein-Barr virus and its subtypes. J Infect Dis. 2007;195:474-82. https://doi.org/10.1086/510854; Pagano J. Is Epstein-Barr virus transmitted sexually? J Infect Dis. 2007;195:469-70. https://doi.org/10.1086/510861; Grünewald K, Desai P, Winkler D, Heymann J, Belnap D, Baumeister W, et al. Threedimensional structure of herpes simplex virus from cryo-electron tomography. Science. 2003;302:1396-8. https://doi.org/10.1126/science.1090284; Sample J, Young L, Martin B, Chatman T, Kieff E, Rickinson A, et al. Epstein-Barr virus types 1 and 2 differ in their EBNA-3A, EBNA-3B, and EBNA-3C genes. J Virol. 1990;64:4084-92.; Chang CM, Yu KJ, Mbulaiteye SM, Hildesheim A, Bhatia K. The extent of genetic diversity of Epstein-Barr virus and its geographic and disease patterns: A need for reappraisal. Virus Res. 2009;143:209-21. https://doi.org/10.1016/j.virusres.2009.07.005; Chabay P, Preciado MV. Epidemiology of Epstein-Barr virus-associated pediatric lymphomas from Argentina. Bol Med Hosp Infant Mex. 2016;73:47-54. https://doi.org/10.1016/j.bmhimx.2015.12.002; Gallart-Catalá A. Infecciones por el virus de Epstein-Barr: mononucleosis infecciosa. 9ª edición. Madrid: Editorial Tratado de Pediatría; 2006. p. 449-55.; Trastoy R, Costa J, Rodríguez J, Navarro D, Barbeito G, Aguilera A. Primoinfección por el virus Epstein-Barr entre los años 2006 a 2015 en el área sanitaria de Santiago de Compostela. Relación con edad y sexo. Rev Esp Quimioter. 2017;30:468-71.; Young L, Murray P. Epstein-Barr virus and oncogenesis: From latent genes to tumours. Oncogene. 2003;22:5108-21. https://doi.org/10.1038/sj.onc.1206556; Niedobitek G, Meru N, Delecluse H. Epstein-Barr virus infection and human malignancies. Int J Exp Pathol. 2001;82:149-70. https://doi.org/10.1111/j.1365-2613.2001.iep190.x; Chang Y, Moore PS, Weiss RA. Human oncogenic viruses: Nature and Discovery. Philos Trans R Soc Lond B Biol Sci. 2017;372:1732-8. https://doi.org/10.1098/rstb.2016.0264; Medina-Ortega A, López-Valencia D, Mosquera-Monje S, Mora-Obando D, Dueñas-Cuéllar A. Virus de Epstein-Barr y su relación con el desarrollo del cáncer. Iatreia. 2017;30:131-45. https://doi.org/10.17533/udea.iatreia.v30n2a03; Tsao SW, Tsang CM, Lo KW. Epstein-Barr virus infection and nasopharyngeal carcinoma. Philos Trans R Soc Lond B Biol Sci. 2017;19:372. https://doi.org/10.1098/rstb.2016.0270; Lorenzetti MA, Gantuz M, Altcheh J, De Matteo E, Chabay P, Preciado M. Distinctive Epstein-Barr virus variants associated with benign and malignant pediatric pathologies: LMP1 sequence characterization and linkage with other viral gene polymorphisms. J Clin Microbiol. 2012;50:609-18. https://doi.org/10.1128/JCM.05778-11; Gantuz M. Identificación y caracterización molecular y funcional de variantes de la proteína latente de membrana 1 del virus de Epstein Barr (tesis). Buenos Aires: Universidad de Buenos Aires; 2016. Fecha de consulta: 20 de septiembre de 2018. Disponible en: https://bibliotecadigital.exactas.uba.ar/download/tesis/tesis_n6055_Gantuz.pdf; Izumi K, Kaye K, Kieff E. The Epstein-Barr virus LMP1 amino acid sequence that engages tumor necrosis factor receptor associated factors is critical for primary B lymphocyte growth transformation. Proc Natl Acad Sci USA.1997;94:1447-52. https://doi.org/10.1073/pnas.94.4.1447; Young LS, Rickinson AB. Epstein-Barr virus: 40 years on. Nat Rev Cancer. 2004;4:757-68. https://doi.org/10.1038/nrc1452; Holthusen K, Talaty P, Everly DN Jr. Regulation of latent membrane protein 1 signaling through interaction with cytoskeletal. J Virol. 2015;89:7277-90. https://doi.org/10.1128/JVI.00321-15; Tsao SW, Tramoutanis G, Dawson CW, Lo AK, Huang DP. The significance of LMP1 expression in nasopharyngeal carcinoma. Semin Cancer Biol. 2002;12:473-87.; Dawson C, Port R, Young L. The role of the EBV-encoded latent membrane proteins LMP1 and LMP2 in the pathogenesis of nasopharyngeal carcinoma (NPC). Semin Cancer Biol. 2012;22:144-53. https://doi.org/10.1016/j.semcancer.2012.01.004; Kieser A, Sterz KR. The latent membrane protein 1 (LMP1). Curr Top Microbiol Immunol. 2015;391:119-49. https://doi.org/10.1007/978-3-319-22834-1_4; Vaysberg MO, Hatton SL, Lambert AL, Snow B, Wong SM, Krams S, et al. Tumor-derived variants of Epstein-Barr virus latent membrane protein 1 induce sustained Erk activation and c-Fos. J Biol Chem. 2008;283:36573-85. https://doi.org/10.1074/jbc.M802968200; Tzellos S, Farrell P. Epstein-Barr virus sequence variation - biology and disease. Pathogens. 2012;1:156-174. https://doi.org/10.3390/pathogens1020156; Edwards RH, Seillier-Moiseiwitsch F, Raab-Traub N. Signature amino acid changes in latent membrane protein 1 distinguish Epstein-Barr virus strains. Virology.1999;261:79-95. https://doi.org/10.1006/viro.1999.9855; Hatfull G, Bankier AT, Barrell BG, Farrell PJ. Sequence analysis of Raji Epstein-Barr virus DNA. Virology. 1988;164:334-40.; Dolan A, Addison C, Gatherer D, Davison AJ, McGeoch DJ. The genome of Epstein-Barr virus type 2 Strain AG876. Virology. 2006;350:164-70. https://doi.org/10.1016/j.virol.2006.01.015; Lei H, Li T, Hung G, Li B, Tsai S, Lo S. Identification and characterization of EBV genomes in spontaneously immortalized human peripheral blood B lymphocytes by NGS technology. BMC Genomics. 2013;14:804. https://doi.org/10.1186/1471-2164-14-804; Santpere G, Darre F, Blanco S, Alcami A, Villoslada P, Mar AB, et al. Genome-wide analysis of wild-type Epstein-Barr virus genomes derived from healthy individuals of the 1,000 Genomes Project. Genome Biol Evol. 2014;6:846-60. https://doi.org/10.1093/gbe/evu054; Giraldo-Ocampo S, Osorio JC, Fernández A, Castillo A. Detección del virus Epstein Barr en escolares adolescentes en la ciudad de Cali, Colombia. Infectio. 2019;23:175-81. https://doi.org/10.22354/in.v23i2.775; Kingman DW, Weiss WB, Jaffe ES, Kumar S, Frekko K, Raffeld M. Epstein-Barr virus latent membrane protein-1 oncogene deletions: Correlations with malignancy in Epstein-Barr virus associated lymphoproliferative disorders and malignant lymphomas. Blood.1996;88:242-51.; Zuo L, Yu H, Liu L, Tang Y, Wu H, Yang J, et al. The copy number of Epstein-Barr virus latent genome correlates with the oncogenicity by the activation level of LMP1 and NF-kB. Oncotarget. 2015;6:41033-44. https://doi.org/10.18632/oncotarget.5708; Kumar S, Stecher G, Tamura K. MEGA 7: Molecular Evolutionary Genetics Analysis version 7.0. Mol Biol Evol. 2016;33:1870-4. https://doi.org/10.1093/molbev/msw054; Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res.1994;22:4673-80. https://doi.org/10.1093/nar/22.22.4673; Coleman C, Daud I, Ogolla S, Ritchie J, Smith N, Sumba P, et al. Epstein-Barr virus type 2 infects t cells in healthy Kenyan children. J Infect Dis. 2017;216:670-7. https://doi.org/10.1093/infdis/jix363; Palser A, Grayson N, White R, Corton C, Correia S, Ba Abdullah M, et al Genome diversity of Epstein-Barr virus from multiple tumour types and normal infection. J Virol. 2015;89:5222-37. https://doi.org/10.1128/JVI.03614-14; Chabay P, De Matteo E, Merediz A, Preciado M. High frequency of Epstein Barr virus latent membrane protein-1 30 bp deletion in a series of pediatric malignancies in Argentina. Arch Virol. 2004;149:1515-26. https://doi.org/10.1007/s00705-004-0311-1; Correa R, Fellner M, Alonio L, Durand K, Teyssie A, Picconi M. Epstein-Barr virus (EBV) in healthy carriers: Distribution of genotypes and 30 bp deletion in latent membrane protein-1 (LMP-1) oncogene. J Med Virol. 2004;73:583-8. https://doi.org/10.1002/jmv.20129; Ai JH, Xie ZD, Liu CY, Gao LW, Yan J. Characteristic of nuclear antigen 1 gene and latent membrane protein 1 gene of Epstein-Barr virus in primary EBV infection in children in Beijin area in 2005-2010. Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi. 2012;26:352-5.; Feederle R, Klinke O, Kutikhin A, Poirey R, Tsai MH, Delecluse HJ. Epstein-Barr virus: From the detection of sequence polymorphisms to the recognition of viral types. Curr Top Microbiol Immunol. 2015;390:119-48. https://doi.org/10.1007/978-3-319-22822-8_7; Chiara M, Manzari C, Lionetti C, Mechelli R, Anastasiadou E, Chiara M. et al. Geographic population structure in Epstein-Barr virus revealed by comparative genomics. Genome Biol Evol. 2016;8:3284-91. https://doi.org/10.1093/gbe/evw226; Smatti M, Yassine H, Abudeh R, AlMarawani A, Taleb S, Althani A, et al. Prevalence and molecular profiling of Epstein Barr virus (EBV) among healthy blood donors from different nationalities in Qatar. PLoS One. 2017;12:e0189033. https://doi.org/10.1371/journal.pone.0189033; Saechan V, Settheetham-Ishida W, Kimura R, Tiwawech D, Mitarnun W, Ishida T. Epstein-Barr virus strains defined by the latent membrane protein 1 sequence characterize Thai ethnic groups. J Gen Virol. 2010;9:2054-61. https://doi.org/10.1099/vir.0.021105-0; Gantuz M, Lorenzetti MA, Chabay PA, Preciado M. A novel recombinant variant of latent membrane protein 1 from Epstein Barr virus in Argentina denotes phylogeographical association. PLoS One. 2017;10:1059-62. https://doi.org/10.1371/journal.pone.0174221; Karpova M, Schoumans J, Blennow E, Ernberg I, Henter J, Smirnov A, et al. Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt’s lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines. Int J Oncol. 2006;26:605-17. https://doi.org/10.3892/ijo.28.3.605; Liao HM, Liu H, Lei H, Li B, Chin PJ, et al. Frequency of EBV LMP-1 promoter and coding variations in Burkitt lymphoma samples in Africa and South America and peripheral blood in Uganda. Cancers (Basel). 2018;10:177. https://doi.org/10.3390/cancers10060177; Carrascal E, Koriyama C, Akiba S, Tamayo O, Itoh T, Eizuru Y, et al. Epstein-Barr virusassociated gastric carcinoma in Cali, Colombia. Oncol Rep. 2003;10:1059-62. https://doi.org/10.3892/or.10.4.1059; Mesa J, Aristizábal B. Seguimiento con carga viral para virus Epstein-Barr en pacientes pediátricos con trasplante hepático. Médicas UIS. 2015;28:393-401. https://doi.org/10.18273/revmed.v28n3-2015015; Zuercher E, Butticaz C, Wyniger J, Martínez R, Battegay M, Boffi El, et al. Genetic diversity of EBV-encoded LMP1 in the Swiss HIV cohort study and implication for NF-Kb activation. PloS One. 2012;7:e32168. https://doi.org/10.1371/journal.pone.0032168; Nagamine M, Takahara M, Kishibe K, Nagat T, Ishii H, Bandoh N et al. Sequence variations of Epstein-Barr virus LMP1 gene in nasal NK/Tcell lymphoma. Virus Genes. 2007;34:47–54. https://doi.org/10.1007/s11262-006-0008-5; Senyuta N, Yakovleva L, Goncharova E, Scherback L, Diduk S, Smirnova K, et al. Epstein-Barr virus latent membrane protein 1 polymorphism in nasopharyngeal carcinoma and other oral cavity tumors in Russia. J Med Virol. 2014;86:290-300. https://doi.org/10.1002/jmv.23729; Yakovleva L, Senyuta N, Goncharova E, Scherback L, Smirnova R, Pavlish O, et al. Epstein-Barr virus lmp1 oncogene variants in cell lines of different origin. Mol Biol (Mosk). 2015;49:714-22. https://doi.org/10.7868/S0026898415050213; Pavlish OA, Diduk SV, Smirnova KV, Shcherbak LN, Goncharova EV, Shalginskykh NA, et al. Mutations of the Epstein-Barr virus LMP1 gene in Russian patients with lymphoid pathology and healthy individuals. Vopr Virusol. 2008;53:10-6.; https://revistabiomedica.org/index.php/biomedica/article/view/4917
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20Electronic Resource
Additional Titles: Caracterización molecular de las variantes del virus de Epstein-Barr detectadas en la cavidad oral de adolescentes de Cali, Colombia
المصدر: Biomedica; Vol. 40 No. Supl. 1 (2020): Mayo, Infecciones en el trópico; 76-88; Biomédica; Vol. 40 Núm. Supl. 1 (2020): Mayo, Infecciones en el trópico; 76-88; 2590-7379; 0120-4157
مصطلحات الفهرس: Epstein-Barr virus infections, mouth, phylogeny, adolescent, Colombia, infecciones por virus de Epstein-Barr, boca, filogenia, adolescente, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion
URL:
https://revistabiomedica.org/index.php/biomedica/article/view/4917 https://revistabiomedica.org/index.php/biomedica/article/view/4917/4457 https://revistabiomedica.org/index.php/biomedica/article/view/4917/4622 https://revistabiomedica.org/index.php/biomedica/article/view/4917/4457 https://revistabiomedica.org/index.php/biomedica/article/view/4917/4622
*ref*/Epstein MA, Achong BG, Barr YM. Virus particles in cultured lymphoblasts from Burkitt’s lymphoma. Lancet. 1964;1:702-3. https://doi.org/10.1016/S0140-6736(64)91524-7
*ref*/Rickinson A, Kieff E. Epstein Barr virus. In: Knipe DM, Howley PM, editors. Fields virology. 5th edition. Philadelphia: Lippincott Williams & Wilkins; 2007. p. 2655-700.
*ref*/Higgins CD, Swerdlow AJ, Macsween KF, Harrison N, Williamns H, McAulay K, et al. A study of risk factors for acquisition of Epstein-Barr virus and its subtypes. J Infect Dis. 2007;195:474-82. https://doi.org/10.1086/510854
*ref*/Pagano J. Is Epstein-Barr virus transmitted sexually? J Infect Dis. 2007;195:469-70. https://doi.org/10.1086/510861
*ref*/Grünewald K, Desai P, Winkler D, Heymann J, Belnap D, Baumeister W, et al. Threedimensional structure of herpes simplex virus from cryo-electron tomography. Science. 2003;302:1396-8. https://doi.org/10.1126/science.1090284
*ref*/Sample J, Young L, Martin B, Chatman T, Kieff E, Rickinson A, et al. Epstein-Barr virus types 1 and 2 differ in their EBNA-3A, EBNA-3B, and EBNA-3C genes. J Virol. 1990;64:4084-92.
*ref*/Chang CM, Yu KJ, Mbulaiteye SM, Hildesheim A, Bhatia K. The extent of genetic diversity of Epstein-Barr virus and its geographic and disease patterns: A need for reappraisal. Virus Res. 2009;143:209-21. https://doi.org/10.1016/j.virusres.2009.07.005
*ref*/Chabay P, Preciado MV. Epidemiology of Epstein-Barr virus-associated pediatric lymphomas from Argentina. Bol Med Hosp Infant Mex. 2016;73:47-54. https://doi.org/10.1016/j.bmhimx.2015.12.002
*ref*/Gallart-Catalá A. Infecciones por el virus de Epstein-Barr: mononucleosis infecciosa. 9ª edición. Madrid: Editorial Tratado de Pediatría; 2006. p. 449-55.
*ref*/Trastoy R, Costa J, Rodríguez J, Navarro D, Barbeito G, Aguilera A. Primoinfección por el virus Epstein-Barr entre los años 2006 a 2015 en el área sanitaria de Santiago de Compostela. Relación con edad y sexo. Rev Esp Quimioter. 2017;30:468-71.
*ref*/Young L, Murray P. Epstein-Barr virus and oncogenesis: From latent genes to tumours. Oncogene. 2003;22:5108-21. https://doi.org/10.1038/sj.onc.1206556
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