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3D cytogenomics: Structural variation in the three-dimensional genome
Book PartAbstract: Balanced and unbalanced structural variants (SVs) contribute to the human genome diversity but havePalabras claves:3D genome organization, Chromosome conformation capture assays, Copy number variants (CNVs), Hi-C, Single-nucleotide variants (SNVs), Structural variations (SVs), Topologically associating domains (TADs), Whole-genome sequencing (WGS)Autores:Melo U.S., Spielmann M., Verónica YumicebaFuentes:scopusDisruption 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:googlescopusMolecular variants associated with flavor perceptions and ancestral proportions of Ecuadorian populations
ArticleAbstract: The perception of taste is determined by several factors, including genetics, which at the same timePalabras claves:Bitter, ECUADOR, Salty, Sweet, Taste perceptionAutores:A. C. Cárdenas Figueroa, Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, M. E. Dávalos, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusAllele frequency data for 15 autosomal strs and ancestral proportions using aims-indels in the shuar ethnic group from Ecuador
ArticleAbstract: The ethnic group Shuar is located in Ecuador. To identify their genetic composition, 46 ancestry-infPalabras claves:AIM-Indels, ECUADOR, shuar, STRsAutores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, D. Maldonado-Oyervide, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, O. Astudillo-González, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusMitochondrial DNA study in the Shuar ethnic group from Ecuador
ArticleAbstract: This study presents mitochondrial data from 55 unrelated individuals from two Ecuadorian Shuar commuPalabras claves:ECUADOR, Haplogroup B, mitochondrial DNA, shuarAutores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, D. Maldonado-Oyervide, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, O. Astudillo-González, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopus