Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Maria, Rigau"'
Autor:
Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of divers
Externí odkaz:
https://doaj.org/article/da340b3b30af42679f99a2df69ba8241
Autor:
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, Egon L. Willighagen, Alfonso Valencia, Marco Roos, Salvador Capella-Gutierrez, Leopold M. G. Curfs, Chris T. Evelo
Publikováno v:
Scientific Data, Vol 8, Iss 1, Pp 1-12 (2021)
Measurement(s) Rett syndrome • phenotype • MECP2 Gene Technology Type(s) digital curation • network analysis Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9
Externí odkaz:
https://doaj.org/article/f28a264039884f95805584f78054c327
Publikováno v:
PLoS Genetics, Vol 15, Iss 1, p e1007902 (2019)
Introns can be extraordinarily large and they account for the majority of the DNA sequence in human genes. However, little is known about their population patterns of structural variation and their functional implication. By combining the most extens
Externí odkaz:
https://doaj.org/article/0c12178ebb15478f934fac0775916326
Publikováno v:
Current Opinion in Cell Biology. 74:37-46
The genome of an early embryo undergoes significant remodelling at the epigenetic, transcriptional, and structural levels. New technological developments have made it possible to study 3D genome organisation in the zygote and early embryo of many dif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::460be0c23a0aede39d8d3a541147f5d2
https://doi.org/10.1016/j.ceb.2021.12.004
https://doi.org/10.1016/j.ceb.2021.12.004
Autor:
Karolina Jodkowska, Vera Pancaldi, Maria Rigau, Ricardo Almeida, José M Fernández-Justel, Osvaldo Graña-Castro, Sara Rodríguez-Acebes, Miriam Rubio-Camarillo, Enrique Carrillo-de Santa Pau, David Pisano, Fátima Al-Shahrour, Alfonso Valencia, María Gómez, Juan Méndez
Publikováno v:
Nucleic acids research. 50(21)
In mammalian cells, chromosomal replication starts at thousands of origins at which replisomes are assembled. Replicative stress triggers additional initiation events from ‘dormant’ origins whose genomic distribution and regulation are not well u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770fabffe6954bc70003fd6e82599e07
https://pubmed.ncbi.nlm.nih.gov/36453993
https://pubmed.ncbi.nlm.nih.gov/36453993
Autor:
Ricky S. Joshi, Maria Rigau, Carlos A. García-Prieto, Manuel Castro de Moura, David Piñeyro, Sebastian Moran, Veronica Davalos, Pablo Carrión, Manuel Ferrando-Bernal, Iñigo Olalde, Carles Lalueza-Fox, Arcadi Navarro, Carles Fernández-Tena, Decky Aspandi, Federico M. Sukno, Xavier Binefa, Alfonso Valencia, Manel Esteller
Publikováno v:
Cell Reports. 40:111257
The human face is one of the most visible features of our unique identity as individuals. Interestingly, monozygotic twins share almost identical facial traits and the same DNA sequence but could exhibit differences in other biometrical parameters. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2ae3e5fac8fc47ee6a64d0199b2ad7
https://doi.org/10.1016/j.celrep.2022.111257
https://doi.org/10.1016/j.celrep.2022.111257
Autor:
Graña-Castro O, Juan Méndez, Fatima Al-Shahrour, Carrillo-de Santa Pau E, Maria Rigau, Pancaldi, Manuel Gómez, Alfonso Valencia, David G. Pisano, Rodríguez-Acebes S, Jodkowska K, Ricardo Almeida, Rubio-Camarillo M, José Miguel Fernández-Justel
In mammalian cells, chromosomal replication starts at thousands of origins at which replisomes are assembled and bidirectional DNA synthesis is established. The slowdown of DNA polymerases at endogenous or exogenous obstacles triggers the activation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69fd29f77e94291badcab0f76848aab7
https://doi.org/10.1101/644971
https://doi.org/10.1101/644971
Publikováno v:
PLoS Genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS Genetics, Vol 15, Iss 1, p e1007902 (2019)
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS Genetics, Vol 15, Iss 1, p e1007902 (2019)
Introns can be extraordinarily large and they account for the majority of the DNA sequence in human genes. However, little is known about their population patterns of structural variation and their functional implication. By combining the most extens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::78b3841daa862fb2321fbab45edc053e
https://pubmed.ncbi.nlm.nih.gov/30677042
https://pubmed.ncbi.nlm.nih.gov/30677042
Autor:
Gbenga Olawale, Eleni Oberbauer, Ian Teasdale, Aitziber Iturmendi, Sandra Rothemund, Maria Rigau, Tamara Aigner, Martina Prambauer, Reinhard Forstner, Oliver Brüggemann, Florian Hildner, Klaus R. Schröder, Robert Liska, Branislav Husár
Publikováno v:
Macromolecular Bioscience. 15:351-363
Photo-polymerizable scaffolds are designed and prepared via short chain poly(organo)phosphazene building blocks bearing glycine allylester moieties. The polyphosphazene was combined with a trifunctional thiol and divinylester in various ratios, follo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95eebc6d0705b67de06aa38aef21e893
https://doi.org/10.1002/mabi.201400390
https://doi.org/10.1002/mabi.201400390
Autor:
Laura Martinez, Manolis Kellis, Maria Rigau, Jesús Vázquez, David Juan, Federico Abascal, Jose Manuel Rodriguez, Irwin Jungreis, Michael L. Tress
Publikováno v:
Nucleic Acids Research
Repisalud
Instituto de Salud Carlos III (ISCIII)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Seventeen years after the sequencing of the human genome, the human proteome is still under revision. One in eight of the 22 210 coding genes listed by the Ensembl/GENCODE, RefSeq and UniProtKB reference databases are annotated differently across the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e4ed4f76c681f06d769d665cd13da5
http://europepmc.org/articles/PMC6294512
http://europepmc.org/articles/PMC6294512