Zobrazeno 1 - 10 of 215 pro vyhledávání: '"Genètica molecular"'
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MiOS, an integrated imaging and computational strategy to model gene folding with nucleosome resolution
Autor: Maria Victoria Neguembor, Juan Pablo Arcon, Diana Buitrago, Rafael Lema, Jürgen Walther, Ximena Garate, Laura Martin, Pablo Romero, Jumana AlHaj Abed, Marta Gut, Julie Blanc, Melike Lakadamyali, Chao-ting Wu, Isabelle Brun Heath, Modesto Orozco, Pablo D. Dans, Maria Pia Cosma
Publikováno v: Nat Struct Mol Biol
The linear sequence of DNA provides invaluable information about genes and their regulatory elements along chromosomes. However, to fully understand gene function and regulation, we need to dissect how genes physically fold in the three-dimensional n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5aa1b916fef53a69917b767d998b4c
http://hdl.handle.net/2445/192014
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3
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Autor: Blasco-Pérez, L., Costa-Roger, M., Leno-Colorado, J., Bernal, Sara, Alias, L., Codina Solà, Marta, Martínez-Cruz, D., Castiglioni, C., Bertini, E., Travaglini, L., Millán, J.M., Aller, E., Sotoca Fernández, Javier, Juntas, R., Hoei-Hansen, C.E., Moreno-Escribano, A., Guillén-Navarro, E., Costa-Comellas, L., Munell Casadesus, Francina, Boronat, S., Rojas-García, R., Povedano, M., Cusco, Ivon, Tizzano, E.F., Universitat Autònoma de Barcelona
Publikováno v: Scientia
Blasco-Pérez, L, Costa-Roger, M, Leno-Colorado, J, Bernal, S, Alias, L, Codina-Solà, M, Martínez-Cruz, D, Castiglioni, C, Bertini, E, Travaglini, L, Millán, J M, Aller, E, Sotoca, J, Juntas, R, Hoei-Hansen, C E, Moreno-Escribano, A, Guillén-Navarro, E, Costa-Comellas, L, Munell, F, Boronat, S, Rojas-García, R, Povedano, M, Cuscó, I & Tizzano, E F 2022, ' Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G >C Variant in SMN2 ', International Journal of Molecular Sciences, vol. 23, no. 15, 8289 . https://doi.org/10.3390/ijms23158289
Dipòsit Digital de la UB
Universidad de Barcelona
International Journal of Molecular Sciences; Volume 23; Issue 15; Pages: 8289
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Next-generation sequencing; Phenotype–genotype correlations; Spinal muscular atrophy Seqüenciació de nova generació; Correlacions fenotip-genotip; Atròfia muscular espinal Secuenciación de nueva generación; Correlaciones fenotipo-genotipo; At
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a624314a7959b7c89be640090fd97e1d
https://hdl.handle.net/11351/8659
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4
Anatomical and molecular analyses of the deltoid muscle in chimpanzees (Pan troglodytes) and modern humans (Homo sapiens): similarities and differences due to the uses of the upper extremity
Autor: Mónica, Gómez, Aroa, Casado, Marina, de Diego, Juan Francisco, Pastor, Josep Maria, Potau
In the deltoid muscles of Pan troglodytes and Homo sapiens, we have analyzed the muscle architecture and the expression of the myosin heavy chain (MHC) isoforms. Our aim was to identify differences between the two species that could be related to the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f37b1790f2d133de72e07c16b0758fde
http://hdl.handle.net/2445/190882
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6
Integrating single cell transcriptomics and volume electron microscopy confirms the presence of pancreatic acinar-like cells in sea urchins
Autor: Periklis Paganos, Paolo Ronchi, Jil Carl, Giulia Mizzon, Pedro Martinez, Giovanna Benvenuto, Maria Ina Arnone
The identity and function of a given cell type relies on the differential expression of gene batteries that promote diverse phenotypes and functional specificities. Therefore, the identification of the molecular and morphological fingerprints of cell
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a649608349b5809e647a20bdbe2657a
http://hdl.handle.net/2445/192423
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7
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency
Autor: Diana Luz Juárez-Flores, Ramon Martí, Josep Maria Grau, Ester Lozano, Ferran Vila-Julià, Javier Ramón, Elena García-Arumí, Lidia Carreño-Gago, Glòria Garrabou
Publikováno v: Journal of Clinical Medicine, Vol 10, Iss 3471, p 3471 (2021)
Journal of Clinical Medicine; Volume 10; Issue 16; Pages: 3471
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Medicine
Scientia
Síndrome de Pearson; Aminocil-ARNt sintetasa mitocondrial; Nova variant patògena Síndrome de Pearson; Aminocil-ARNt sintetasa mitocondrial; Nueva variante patógena Pearson’s syndrome; Mitochondrial aminocyl-tRNA synthetase; Novel pathogenic var
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce9331b3a33567627f2e954d4db22818
https://www.mdpi.com/2077-0383/10/16/3471
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8
gcProfileMakeR: An R Package for Automatic Classification of Constitutive and Non-Constitutive Metabolites
Autor: Sara Arce-Gallego, Pedro J. Navarro, Fernando Perez-Sanz, Marta I. Terry, Victoria Ruiz-Hernández, Julia Weiss, Marcos Egea-Cortines
Publikováno v: Scientia
Metabolites, Vol 11, Iss 211, p 211 (2021)
Metabolites
Volume 11
Issue 4
Circadian clock; Constitutive metabolome; Machine learning Reloj circadiano; Metaboloma constitutivo; Aprendizaje automático Rellotge circadià; Metaboloma constitutiu; Aprenentatge automàtic Metabolomes comprise constitutive and non-constitutive m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3857202257bd7f852c4748e1d1b1caa6
https://hdl.handle.net/11351/7642
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9
RNA-controlled nucleocytoplasmic shuttling of mRNA decay factors regulates mRNA synthesis and a novel mRNA decay pathway
Autor: Shiladitya Chattopadhyay, Jose Garcia-Martinez, Gal Haimovich, Jonathan Fischer, Aya Khwaja, Oren Barkai, Silvia Gabriela Chuartzman, Maya Schuldiner, Ron Elran, Miriam I. Rosenberg, Shira Urim, Shubham Deshmukh, Katherine E. Bohnsack, Markus T. Bohnsack, Jose E. Perez-Ortin, Mordechai Choder
Publikováno v: Chattopadhyay, Shiladitya García Martínez, José Haimovich, G. Fischer, Jonathan Khwaja, Aya Barkai, O. Chuartzman, Silvia Gabriela Schuldiner, Maya Elran, Ron Rosenberg, Miriam I. Urim, Shira Deshmukh, Shubham Bohnsack, Katherine E. Bohnsack, Markus T. Pérez Ortín, José Enrique Choder, M. 2022 RNA-controlled nucleocytoplasmic shuttling of mRNA decay factors regulates mRNA synthesis and a novel mRNA decay pathway Nature Communications 13 7184 1 17
mRNA level is controlled by factors that mediate both mRNA synthesis and decay, including the 5’ to 3’ exonuclease Xrn1. Here we show that nucleocytoplasmic shuttling of several yeast mRNA decay factors plays a key role in determining both mRNA s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36a2620028081e048d56cbcd53bf2cd5
https://pubmed.ncbi.nlm.nih.gov/36418294
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