Mostrando 10 resultados de: 14
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Journal of Medical Case Reports(2)
BMC Medical Genomics(1)
BioMed Research International(1)
British Journal of Dermatology(1)
Forensic Science International: Genetics Supplement Series(1)
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis
ArticleAbstract: Background Duplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesisPalabras claves:gene expression regulation, gene rearrangement, high-throughput nucleotide sequencing, sequence analysis, DNA, sex determination processesAutores:Busch H., Claviez A., Hiort O., Holterhus P.M., Kaiser F.J., Kruse N., Künstner A., Meinel J.A., Schultz K., Spielmann M., Verónica Yumiceba, Werner R.Fuentes:scopusIsocitrate dehydrogenase 1 mutation drives leukemogenesis by PDGFRA activation due to insulator disruption in acute myeloid leukemia (AML)
ArticleAbstract: Acute myeloid leukemia (AML) is characterized by complex molecular alterations and driver mutations.Palabras claves:Autores:Baldus C.D., Bastian L., Beder T., Bultmann M., Fransecky L., Hänzelmann S., Hartmann A., Hübner E., Lenk L., Lipinski S., Neumann M., Richter K., Röllig C., Schewe D.M., Schultz K., Silva P., Spielmann M., Steinhäuser S., Verónica Yumiceba, Vogiatzi F., Xia S.Fuentes:scopusTranscriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon
ArticleAbstract: X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-Palabras claves:Epigenetics, Retrotransposon, splicing, SVA, transcription, XDPAutores:Algodon S.M., Brüggemann N., Cruz J.N., Diesta C.C.E., Glatzel M., Grütz K., Händler K., Jamora R.D.G., Kaiser F.J., Kirchner H., Klein C., Kruse N., Laß J., Matschke J., Pozojevic J., Rakovic A., Rosales R.L., Schaake S., Schulz K., Seibler P., Spielmann M., Sreenivasan V.K.A., Trinh J., Tse R., Verónica Yumiceba, Westenberger A.Fuentes:scopusWhen too much is too much: Noncoding duplications in skin disorders
OtherAbstract:Palabras claves:Autores:Spielmann M., Verónica YumicebaFuentes:scopusRing chromosome 15 - Cytogenetics and mapping arrays: A case report and review of the literature
ArticleAbstract: Background: Ring chromosome 15 has been associated in previous studies with different clinical charaPalabras claves:Cytogenetics, Mapping arrays, Ring 15, Ring reviewAutores:Ariane Paz-y-Miño, Cesar Paz-y-Miño, Francesca Velarde, García J.L., Hernández-Rivas J.M., Isaac Armendáriz-Castillo, Jaime Guevara-Aguirre, Paola E. Leone, Verónica YumicebaFuentes:googlescopusAncestral analysis of a Native American Ecuadorian family with congenital insensitivity to pain with anhidrosis
ArticleAbstract: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disPalabras claves:Congenital insensitivity to pain with anhidrosis, ecuadorian, FAAH, Native American, NTRK1Autores:Albuja Echeverría B., Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Eliana Cabascango, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Paola E. Leone, Pérez-M G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusPulmonary Inflammatory Response in Lethal COVID-19 Reveals Potential Therapeutic Targets and Drugs in Phases III/IV Clinical Trials
ArticleAbstract: Background: It is imperative to identify drugs that allow treating symptoms of severe COVID-19. RespPalabras claves:clinical trials, drugs, lethal COVID-19, pulmonary inflammatory response, single nucleus RNA sequencingAutores:Alejandro Cabrera-Andrade, Alexandra Patricia Guevara, Álvaro A. Pérez-Meza, Ana María Gómez-Jaramillo, Andrea Abad-Sojos, Andrea V. Jácome, Andrés López-Cortés, Andy Pérez-Villa, Ángela León-Cáceres, Antonella Vera-Guapi, Ariana León-Sosa, Cevallos-Robalino D., Echeverría-Garcés G., Esteban Ortiz-Prado, Estefanía Abarca, Fernanda Arias-Erazo, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Jhommara Bautista, Katherine Simbaña-Rivera, Lourdes Puig San Andrés, Luis Fuenmayor-González, Morillo A., Nieto-Jaramillo K., Nikolaos C. Kyriakidis, Quiñones L.A., Ramos-Medina M.J., Santiago Xavier Guerrero, Verónica YumicebaFuentes:scopusClinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: A case report
ArticleAbstract: Background: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal rPalabras claves:CIPA, ecuadorian, Genomics analysis, Native American, NTRK1Autores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Echeverría B.A., Eliana Cabascango, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Paola E. Leone, Pérez-M G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusA deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: A case report
ArticleAbstract: Background: Anaplastic astrocytoma is a rare disorder in children from 10 to 14 years of age, with aPalabras claves:High-grade gliomas, Li-Fraumeni syndrome, Pediatric anaplastic astrocytoma, TP53Autores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Jorge P. Torres-Yaguana, Paola E. Leone, Runruil G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusThe close interaction between hypoxia-related proteins and metastasis in pancarcinomas
ArticleAbstract: Many primary-tumor subregions exhibit low levels of molecular oxygen and restricted access to nutriePalabras claves:Autores:Alexandra Patricia Guevara, Andrea Abad-Sojos, Andrés López-Cortés, Andy Pérez-Villa, Ángela León-Cáceres, Antonella Vera-Guapi, Echeverría-Garcés G., Esteban Ortiz-Prado, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Jhommara Bautista, Katherine Simbaña-Rivera, Lourdes Puig San Andrés, Nikolaos C. Kyriakidis, Prathap L., Santiago Xavier Guerrero, Varela N.M., Verónica YumicebaFuentes:googlescopus