Zobrazeno 1 - 10 of 26 pro vyhledávání: '"Dori Huertas"'
1
Akademický článek
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice
Autor: Olga C. Jorge-Torres, Karolina Szczesna, Laura Roa, Carme Casal, Louisa Gonzalez-Somermeyer, Marta Soler, Cecilia D. Velasco, Pablo Martínez-San Segundo, Paolo Petazzi, Mauricio A. Sáez, Raúl Delgado-Morales, Stephane Fourcade, Aurora Pujol, Dori Huertas, Artur Llobet, Sonia Guil, Manel Esteller
Publikováno v: Cell Reports, Vol 23, Iss 6, Pp 1665-1677 (2018)
Summary: Rett syndrome (RTT) is the second leading cause of mental impairment in girls and is currently untreatable. RTT is caused, in more than 95% of cases, by loss-of-function mutations in the methyl CpG-binding protein 2 gene (MeCP2). We propose
Externí odkaz: https://doaj.org/article/bc1437b5be294926aba3171df569a526
Zobrazit plný text záznamu
2
Akademický článek
An increase in MECP2 dosage impairs neural tube formation
Autor: Paolo Petazzi, Naiara Akizu, Alejandra García, Conchi Estarás, Alexia Martínez de Paz, Manuel Rodríguez-Paredes, Marian A. Martínez-Balbás, Dori Huertas, Manel Esteller
Publikováno v: Neurobiology of Disease, Vol 67, Iss , Pp 49-56 (2014)
Epigenetic mechanisms are fundamental for shaping the activity of the central nervous system (CNS). Methyl-CpG binding protein 2 (MECP2) acts as a bridge between methylated DNA and transcriptional effectors responsible for differentiation programs in
Externí odkaz: https://doaj.org/article/d8fec48b6a984d6b89809987a37ee53e
Zobrazit plný text záznamu
3
Akademický článek
Circadian cycle-dependent MeCP2 and brain chromatin changes.
Autor: Alexia Martínez de Paz, Jose Vicente Sanchez-Mut, Mireia Samitier-Martí, Paolo Petazzi, Mauricio Sáez, Karolina Szczesna, Dori Huertas, Manel Esteller, Juan Ausió
Publikováno v: PLoS ONE, Vol 10, Iss 4, p e0123693 (2015)
Methyl CpG binding protein 2 (MeCP2) is a chromosomal protein of the brain, very abundant especially in neurons, where it plays an important role in the regulation of gene expression. Hence it has the potential to be affected by the mammalian circadi
Externí odkaz: https://doaj.org/article/c5d7ada75f8047a5a4adb019d982a626
Zobrazit plný text záznamu
4
Akademický článek
Generation and characterization of rat and mouse monoclonal antibodies specific for MeCP2 and their use in X-inactivation studies.
Autor: K Laurence Jost, Andrea Rottach, Manuela Milden, Bianca Bertulat, Annette Becker, Patricia Wolf, Juan Sandoval, Paolo Petazzi, Dori Huertas, Manel Esteller, Elisabeth Kremmer, Heinrich Leonhardt, M Cristina Cardoso
Publikováno v: PLoS ONE, Vol 6, Iss 11, p e26499 (2011)
Methyl CpG binding protein 2 (MeCP2) binds DNA, and has a preference for methylated CpGs and, hence, in cells, it accumulates in heterochromatin. Even though it is expressed ubiquitously MeCP2 is particularly important during neuronal maturation. Thi
Externí odkaz: https://doaj.org/article/2084851c2a064e75b019d2029608cf9f
Zobrazit plný text záznamu
8
Comparative genome-wide DNA methylation analysis of colorectal tumor and matched normal tissues
Autor: Yassen Assenov, Hendrik G. Stunnenberg, Lucia Altucci, Vittorio Colantuoni, Alberto Villanueva, Dori Huertas, Femke Simmer, Filomena Matarese, Thomas Lengauer, Christoph Bock, Lina Sabatino, Anita Kaan, Manel Esteller, Arie B. Brinkman
Publikováno v: Epigenetics 7(12) (2012): 1355–1367.
info:cnr-pdr/source/autori:Simmer F, Brinkman AB, Assenov Y, Matarese F, Kaan A, Sabatino L, Villanueva A, Huertas D, Esteller M, Lengauer T, Bock C, Colantuoni V, Altucci L, Stunnenberg HG./titolo:Comparative genome-wide DNA methylation analysis of colorectal tumor and matched normal tissues./doi:/rivista:Epigenetics/anno:2012/pagina_da:1355/pagina_a:1367/intervallo_pagine:1355–1367/volume:7(12)
Epigenetics
Scopus-Elsevier
Epigenetics, 7, 12, pp. 1355-1367
Epigenetics, 7, 1355-1367
Aberrant DNA methylation often occurs in colorectal cancer (CRC). In our study we applied a genome-wide DNA methylation analysis approach, MethylCap-seq, to map the differentially methylated regions (DMRs) in 24 tumors and matched normal colon sample
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb16d9cff0b0df01f7a8af8219021bdc
https://doi.org/10.4161/epi.22562
Zobrazit plný text záznamu
10
Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient
Autor: Maria R. Matarazzo, Juan Sandoval, Dori Huertas, Sebastian Moran, Joaquín Dopazo, Laia Simó-Riudalbas, Sergi Sayols, Karolina Szczesna, Sole Gatto, Manel Esteller, Ignacio Medina, Holger Heyn, Jose V. Sanchez-Mut, Enrique Vidal
Publikováno v: Epigenetics
Epigenetics; Vol 7
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
EPIGENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Epigenetics 7 (2012): 542–550. doi:10.4161/epi.20523
info:cnr-pdr/source/autori:Heyn H.; Vidal E.; Sayols S.; Sanchez-Mut J.V.; Moran S.; Medina I.; Sandoval J.; Simo-Riudalbas L.; Szczesna K.; Huertas D.; Gatto S.; Matarazzo M.R.; Dopazo J.; Esteller M./titolo:Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient/doi:10.4161%2Fepi.20523/rivista:Epigenetics/anno:2012/pagina_da:542/pagina_a:550/intervallo_pagine:542–550/volume:7
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
The immunodeficiency, centromere instability and facial anomalies (ICF) syndrome is associated to mutations of the DNA methyl-transferase DNMT3B, resulting in a reduction of enzyme activity. Aberrant expression of immune system genes and hypomethylat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a62752fdef3e9a83c9a4b79bb74f987
https://doi.org/10.4161/epi.20523
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje