Výsledky vyhledávání - "Patrizia Calandra"

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Publikováno v: EUROPEAN JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
European Journal of Neurology, 27, 12, pp. 2604-2615
European Journal of Neurology, 27, 2604-2615
European journal of neurology
27 (2020): 2604–2615. doi:10.1111/ene.14446
info:cnr-pdr/source/autori:Giacomucci G.; Monforte M.; Diaz-Manera J.; Mul K.; Fernandez Torron R.; Maggi L.; Marini Bettolo C.; Dahlqvist J.R.; Haberlova J.; Camano P.; Gros M.; Tartaglione T.; Cristiano L.; Gerevini S.; Calandra P.; Deidda G.; Giardina E.; Sacconi S.; Straub V.; Vissing J.; Van Engelen B.; Ricci E.; Tasca G./titolo:Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging/doi:10.1111%2Fene.14446/rivista:European journal of neurology (Print)/anno:2020/pagina_da:2604/pagina_a:2615/intervallo_pagine:2604–2615/volume:27
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)

Contains fulltext : 229735.pdf (Publisher’s version ) (Closed access) BACKGROUND AND PURPOSE: The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd3c2e3f2b11e46918d5d5dca3e6a399
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1395

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Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity

Autor: Fabiola Moretti, Roberta Morosetti, Sabrina Sacconi, Enzo Ricci, Isabella Cascino, Marsha Pellegrino, Giancarlo Deidda, Giorgio Tasca, Giuliana Galluzzi, Marco Crescenzi, Alfredo Pontecorvi, Emanuela Teveroni, Angela Puma, Matteo Garibaldi, Carlo P. Trevisan, Stefano Farioli-Vecchioli, Patrizia Calandra

Publikováno v: The Journal of clinical investigation (2017). doi:10.1172/JCI89401
info:cnr-pdr/source/autori:Teveroni, Emanuela; Pellegrino, Marsha; Sacconi, Sabrina; Calandra, Patrizia; Cascino, Isabella; Farioli-Vecchioli, Stefano; Puma, Angela; Garibaldi, Matteo; Morosetti, Roberta; Tasca, Giorgio; Ricci, Enzo; Trevisan, Carlo Pietro; Galluzzi, Giuliana; Pontecorvi, Alfredo; Crescenzi, Marco; Deidda, Giancarlo; Moretti, Fabiola/titolo:Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity./doi:10.1172%2FJCI89401/rivista:The Journal of clinical investigation/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is characterized by extreme variability in symptoms, with females being less severely affected than males and presenting a higher proportion of asympto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a616d11d1f1597c389f2467506c1d7da
https://pubmed.ncbi.nlm.nih.gov/28263188

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Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2

Autor: Patrizia Calandra, Mauro Monforte, Enzo Ricci, Fabiola Moretti, Silvère M. van der Maarel, Isabella Cascino, Giuliana Galluzzi, Richard J.L.F. Lemmers, Emanuela Teveroni, Giorgio Tasca, Giancarlo Deidda

Publikováno v: Journal of medical genetics
(2016). doi:10.1136/jmedgenet-2015-103436
info:cnr-pdr/source/autori:Calandra P, Cascino I, Lemmers RJ, Galluzzi G, Teveroni E, Monforte M, Tasca G, Ricci E, Moretti F, van der Maarel SM, Deidda G./titolo:Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2/doi:10.1136%2Fjmedgenet-2015-103436/rivista:Journal of medical genetics (Print)/anno:2016/pagina_da:/pagina_a:/intervallo_pagine:/volume
Journal of Medical Genetics, 53(5), 348-355

Background Facioscapulohumeral muscular dystrophy is associated with an epigenetic defect on 4q subtelomere. This dystrophy is caused by contraction of the D4Z4 macrosatellite array on chromosome 4qter in FSHD1, or by functional impairment of SMCHD1,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f82dee8c3c0e79b4232756feeca8666
https://hdl.handle.net/1887/113795

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Highly efficient, in vivo optimized, archaeal endonuclease for controlled RNA splicing in mammalian cells

Autor: Daniela Scarabino, Patrizia Calandra, Glauco P. Tocchini-Valentini, Nicoletta Rossi, Giancarlo Deidda, Sabrina Putti

Publikováno v: The FASEB journal 27 (2013): 3466–3477. doi:10.1096/fj.13-231993
info:cnr-pdr/source/autori:Putti S.1; Calandra P.; Rossi N.; Scarabino D.; Deidda G.; Tocchini-Valentini G.P./titolo:Highly efficient, in vivo optimized, archaeal endonuclease for controlled RNA splicing in mammalian cells/doi:10.1096%2Ffj.13-231993/rivista:The FASEB journal/anno:2013/pagina_da:3466/pagina_a:3477/intervallo_pagine:3466–3477/volume:27

ARCHAEA-ExPRESs is an mRNA modification technology that makes use of components derived from the Archaeon Methanocaldococcus jannaschii, namely the tRNA splicing endonuclease (MJ-EndA) and its natural substrate, the bulge-helix-bulge (BHB) structure

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8056894fb01f7ed5149e71f115057775
http://www.cnr.it/prodotto/i/279706

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Two helices plus a linker: a small model substrate for eukaryotic RNase P

Autor: Glauco P. Tocchini-Valentini, Paolo Fruscoloni, Gioia Carrara, Patrizia Calandra

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 92(7)

Using precursor tRNA molecules to study RNA-protein interactions, we have identified an RNA motif recognized by eukaryotic RNase P (EC 3.1.26.5). Analysis of circularly permuted precursors indicates that interruptions in the sugar-phosphate backbone

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::448db5a5fc44dcc225bf6728a801b363
https://pubmed.ncbi.nlm.nih.gov/7708695

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An RNA molecule copurifies with RNase P activity from Xenopus laevis oocytes

Autor: Gioia Carrara, Patrizia Calandra, Margherita Doria, Glauco P. Tocchini-Valentini

Publikováno v: Nucleic acids research. 19(9)

Utilizing a procedure for the purification of RNase P from Xenopus laevis germinal vesicle (GV) extracts, according to which the contamination by a large, cytoplasmic, cylindrical structure (1) is avoided, we demonstrate that the X.laevis enzyme, lik

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::071fbdec62baad560998be5d633cda7a
https://pubmed.ncbi.nlm.nih.gov/1710353

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Site selection by Xenopus laevis RNAase P

Autor: Gioia Carrara, Glauco P. Tocchini-Valentini, Patrizia Calandra, Paolo Fruscoloni, Margherita Doria

Publikováno v: Cell. 58:37-45

Investigation of the mechanism of cleavage site selection by Xenopus RNAase P reveals that the acceptor stem, a 7 bp helix common to all tRNA precursors, is required for cleavage. We propose that Xenopus RNAase P recognizes conserved features of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2441d73cb504fd04b971230bf7c2b62f
https://doi.org/10.1016/0092-8674(89)90400-5

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