Zobrazeno 1 - 10 of 27 pro vyhledávání: '"Isabella Cascino"'
1
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
Zobrazit plný text záznamu
2
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
Zobrazit plný text záznamu
3
Identification of previously unrecognized predisposing factors for ankylosing spondylitis from analysis of HLA–B27 extended haplotypes in sardinia
Autor: Rosa Sorrentino, Alberto Cauli, Maria Teresa Fiorillo, Francesca Belfiore, Claudia Angelini, Isabella Cascino, Fabiana Paladini, Alessandro Mathieu
Publikováno v: Arthritis and rheumatism 56(8) (2007): 2640–2651. doi:10.1002/art.22820
info:cnr-pdr/source/autori:Cascino I., Paladini F., Belfiore F., Cauli A., Angelini C., Fiorillo M.T., Mathieu A. and Sorrentino R./titolo:Identification of Previously Unrecognized Predisposing Factors for Ankylosing Spondylitis From Analysis of HLA-B27 Extended Haplotypes in Sardinia./doi:10.1002%2Fart.22820/rivista:Arthritis and rheumatism/anno:2007/pagina_da:2640/pagina_a:2651/intervallo_pagine:2640–2651/volume:56(8)
Objective To define the contribution of HLA genes other than HLA–B27 in conferring susceptibility to ankylosing spondylitis (AS), through analysis of HLA–B27 haplotypes in Sardinian subjects. Methods Ninety-eight patients with AS, 133 HLA–B27
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce634aaecfe121fef04fabdcdb990491
https://doi.org/10.1002/art.22820
Zobrazit plný text záznamu
4
The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region)
Autor: Teodorica L. Bugawan, Isabella Cascino, C.A. Mesturino, Henry A. Erlich, Raffaella Buzzetti, Gabriele Giorgi, Andrea Galgani, Antonio Petrone, Lorenza Nisticò, U. Di Mario
Publikováno v: Tissue Antigens. 58:385-394
HLA class II is the primary susceptibility gene to type 1 diabetes and the analysis of HLA class II association could help to clarify the relative weight of genetic contribution to the incidence of the disease. Here we present an extensive typing for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::589be08e3264b25a5d791b95e594f699
https://doi.org/10.1034/j.1399-0039.2001.580607.x
Zobrazit plný text záznamu
5
Association of DRB1*04-DQB1*0301 Haplotype and Lack of Association of Two Polymorphic Sites at CTLA-4 Gene with Hashimoto's Thyroiditis in an Italian Population
Autor: Isabella Cascino, John Osborn, Marco Capizzi, Antonio Petrone, Gabriele Giorgi, Chiara A. Mesturino, Raffaella Buzzetti, Umberto Di Mario, Lorenza Nisticò
Publikováno v: Scopus-Elsevier
Hashimoto's thyroiditis (HT) is an autoimmune disease resulting from a complex interaction between genetic and environmental factors. The genetic loci conferring susceptibility need to be still defined. The aim of the present study was to determine w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::140fc685c447e9151f84a80d05345189
https://doi.org/10.1089/105072501300042901
Zobrazit plný text záznamu
6
Gender-dependent association of type 2 diabetes with the vasoactive intestinal peptide receptor 1
Autor: Isabella Cascino, Valerio Adinolfi, Susanna Morano, Rosa Sorrentino, Elisa Cocco, Federica Lucantoni, Giulia Tamburrano, Ester Ciociola, Fabiana Paladini
Publikováno v: Gene (Amst.) 493 (2012): 278–281. doi:10.1016/j.gene.2011.11.055
info:cnr-pdr/source/autori:Paladini Fabiana a; Adinolfi Valerio b; Cocco Elisa a; Ciociola Ester b; Tamburrano Giulia b; Cascino Isabella c; Lucantoni Federica b; Morano Susanna b; Sorrentino Rosa a/titolo:Gender-dependent association of type 2 diabetes with the vasoactive intestinal peptide receptor 1/doi:10.1016%2Fj.gene.2011.11.055/rivista:Gene (Amst.)/anno:2012/pagina_da:278/pagina_a:281/intervallo_pagine:278–281/volume:493
Type 2 diabetes is characterized by an inadequate pancreatic beta-cell response to the progressive insulin resistance. Its pathogenesis is complex and has been connected with a state of preclinical chronic inflammation. Vasoactive intestinal peptide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48d3ecc28cce4a0890e4c2967d3dd75
https://pubmed.ncbi.nlm.nih.gov/22166542
Zobrazit plný text záznamu
7
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes
Autor: Zuheir L. Awdeh, Isabella Cascino, Chester A. Alper, Mara Giordano, Nazario Cappello, Alberto Pugliese, P. Momigliano Richiardi, Sandra D'Alfonso
Publikováno v: Tissue Antigens. 42:62-66
Gametic associations of a three-allele polymorphism of the HSP70-1 promoter region were analyzed in a random North Italian population, in 69 HLA homozygous cell lines and in 29 families in Boston, all typed for HLA class I, class II and complement al
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc02375b235107107d4f1dc7b223fe5
https://doi.org/10.1111/j.1399-0039.1993.tb02238.x
Zobrazit plný text záznamu
8
HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia
Autor: Alessandra Vacca, Alberto Cauli, Elisa Cocco, Rosa Sorrentino, Francesca Belfiore, Isabella Cascino, Carlo Carcassi, Alessandro Mathieu, Fabiana Paladini, Maria Teresa Fiorillo
Publikováno v: Arthritis Research and Therapy
Arthritis Research and Therapy, BioMed Central, 2009, pp.2009, 11:R171. ⟨10.1186/ar2860⟩
Arthritis Research & Therapy
Arthritis research & therapy
11 (2009). doi:10.1186/ar2860
info:cnr-pdr/source/autori:Paladini F., Belfiore F., Cocco E., Carcassi C., Cauli A., Vacca A., Fiorillo M.T., Mathieu A., Cascino I., Sorrentino R./titolo:HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia/doi:10.1186%2Far2860/rivista:Arthritis research & therapy (Print)/anno:2009/pagina_da:/pagina_a:/intervallo_pagine:/volume:11
International audience; INTRODUCTION: Ankylosing spondylitis (AS) is a severe, chronic inflammatory disease strongly associated with HLA-B27. The presence of additional HLA risk factors has been suggested by several studies. The aim of the current st
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c6ba7b5e8b8e80697698f0a76980c9b
https://hal.archives-ouvertes.fr/hal-00543811/file/ar2860.pdf
Zobrazit plný text záznamu
10
Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene
Autor: Isabella Cascino, Rosa Sorrentino, Danilo Badiali, Luca Piretta, Francesca Belfiore, Elisa Cocco, Fabiana Paladini, F. Alghisi, F. Anzini, Maria Teresa Fiorillo, Enrico Corazziari
Publikováno v: Neurogastroenterology and motility
21 (2009): 597–602. doi:10.1111/j.1365-2982.2009.01284.x
info:cnr-pdr/source/autori:Paladini F., Cocco E., Cascino I., Belfiore F., Badiali D., Piretta L., Alghisi F., Anzini F., Fiorillo M.T., Corazziari E. and Sorrentino R./titolo:Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene./doi:10.1111%2Fj.1365-2982.2009.01284.x/rivista:Neurogastroenterology and motility (Print)/anno:2009/pagina_da:597/pagina_a:602/intervallo_pagine:597–602/volume:21
Idiopathic achalasia is a rare disorder of the oesophagus of unknown aetio-pathogenesis characterized by a myenteric inflammation, aperistalsis and insufficient lower oesophageal sphincter relaxation. Vasoactive intestinal peptide (VIP), present in t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c1401ab1ca5f22596c7ce9b6bbb829c
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje