Zobrazeno 1 - 10
of 47
pro vyhledávání: '"PAOLA FORABOSCO"'
Autor:
Paola Forabosco, Mauro Pala, Francesca Crobu, Maria Antonietta Diana, Mara Marongiu, Roberto Cusano, Andrea Angius, Maristella Steri, Valeria Orrù, David Schlessinger, Edoardo Fiorillo, Marcella Devoto, Francesco Cucca
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Gene co-expression network analysis enables identification of biologically meaningful clusters of co-regulated genes (modules) in an unsupervised manner. We present here the largest study conducted thus far of co-expression networks in white blood ce
Externí odkaz:
https://doaj.org/article/3199be89b03f4f1bac21ab97e924be4c
Autor:
Conceição Bettencourt, Paola Forabosco, Sarah Wiethoff, Moones Heidari, Daniel M. Johnstone, Juan A. Botía, Joanna F. Collingwood, John Hardy, Elizabeth A. Milward, Mina Ryten, Henry Houlden
Publikováno v:
Neurobiology of Disease, Vol 87, Iss , Pp 59-68 (2016)
Aberrant brain iron deposition is observed in both common and rare neurodegenerative disorders, including those categorized as Neurodegeneration with Brain Iron Accumulation (NBIA), which are characterized by focal iron accumulation in the basal gang
Externí odkaz:
https://doaj.org/article/6d9e25d017274482947134e71bc82242
Autor:
Ian C. Scott, Seth D. Seegobin, Sophia Steer, Rachael Tan, Paola Forabosco, Anne Hinks, Stephen Eyre, Ann W. Morgan, Anthony G. Wilson, Lynne J. Hocking, Paul Wordsworth, Anne Barton, Jane Worthington, Andrew P. Cope, Cathryn M. Lewis
Publikováno v:
PLoS Genetics, Vol 9, Iss 10 (2013)
Externí odkaz:
https://doaj.org/article/dea36ebbb53f4fdab84e7fb35c8ce65a
Autor:
Ian C Scott, Seth D Seegobin, Sophia Steer, Rachael Tan, Paola Forabosco, Anne Hinks, Stephen Eyre, Ann W Morgan, Anthony G Wilson, Lynne J Hocking, Paul Wordsworth, Anne Barton, Jane Worthington, Andrew P Cope, Cathryn M Lewis
Publikováno v:
PLoS Genetics, Vol 9, Iss 9, p e1003808 (2013)
The improved characterisation of risk factors for rheumatoid arthritis (RA) suggests they could be combined to identify individuals at increased disease risks in whom preventive strategies may be evaluated. We aimed to develop an RA prediction model
Externí odkaz:
https://doaj.org/article/3993128f7c024764988b842cfe98dea4
Association of the IL-10 gene family locus on chromosome 1 with juvenile idiopathic arthritis (JIA).
Autor:
Ebun Omoyinmi, Paola Forabosco, Raja Hamaoui, Annette Bryant, Anne Hinks, Simona Ursu, Childhood Arthritis Prospective Study (CAPS), BSPAR study group, Childhood Arthritis Response to Medication Study (CHARMS), Lucy R Wedderburn, Wendy Thomson, Cathryn M Lewis, Patricia Woo
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e47673 (2012)
BackgroundThe cytokine IL-10 and its family members have been implicated in autoimmune diseases and we have previously reported that genetic variants in IL-10 were associated with a rare group of diseases called juvenile idiopathic arthritis (JIA). T
Externí odkaz:
https://doaj.org/article/68848ac2dda2488597842d2648905178
Autor:
Silvia Tore, Stefania Casula, Giuseppina Casu, Maria Pina Concas, Paola Pistidda, Ivana Persico, Alessandro Sassu, Giovanni Battista Maestrale, Caterina Mele, Maria Rosa Caruso, Bibiana Bonerba, Paolo Usai, Ivo Deiana, Timothy Thornton, Mario Pirastu, Paola Forabosco
Publikováno v:
PLoS Genetics, Vol 7, Iss 1, p e1001281 (2011)
In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a smal
Externí odkaz:
https://doaj.org/article/a71184c3484143e1a5dd9399a5170e56
Autor:
Fabio Busonero, Marco Masala, Gabriella Sole, Serena Sanna, Valeria Orrù, Cristian Antonio Caria, Michele Marongiu, Magdalena Zoledziewska, Isadora Asunis, Carlo Sidore, Paola Forabosco, Mauro Pala, Gonçalo R. Abecasis, Edoardo Fiorillo, Maristella Pitzalis, Sandra Lai, Francesca Deidda, Antonella Mulas, Matteo Floris, Maristella Steri, Andrea Maschio, Susanna Barella, David Schlessinger, Stefania Olla, Francesco Cucca
Publikováno v:
British Journal of Haematology, e124-e128. Wiley
ISSUE=5;STARTPAGE=e124;ENDPAGE=e128;ISSN=0007-1048;TITLE=British Journal of Haematology
Br J Haematol
ISSUE=5;STARTPAGE=e124;ENDPAGE=e128;ISSN=0007-1048;TITLE=British Journal of Haematology
Br J Haematol
Autor:
Gabriella Sole, Marco Masala, Sandra Lai, Valeria Orrù, Francesca Deidda, Mauro Pala, Magdalena Zoledziewska, Antonella Mulas, Matteo Floris, Andrea Maschio, Edoardo Fiorillo, Serena Sanna, Gonçalo R. Abecasis, Michele Marongiu, Isadora Asunis, Carlo Sidore, Maristella Steri, Cristian Antonio Caria, Francesco Cucca, Paola Forabosco, Fabio Busonero, Susanna Barella, Maristella Pitzalis, David Schlessinger, Stefania Olla
To investigate the genetic regulation of platelet (PLT) levels we carried out a whole-genome association analysis in 6,528 Sardinians from the general population of the Lanusei valley. We found 6 variants significantly influencing PLT levels, includi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7324594a1b1d71bc5a4d3eae6402a826
https://doi.org/10.1101/2020.07.06.20143263
https://doi.org/10.1101/2020.07.06.20143263
Autor:
Leonardo Collado-Torres, Oluwadamilola Ojo, Huw Morris, Andy Thomason, Isabel Gonzalez-Aramburu, Mie Rizig, Sara Bandrés Ciga, Patrick Lewis, María Teresa Periñán, Pau Pastor, Nicholas Wood, Kerrin Small, John Quinn, PAOLA FORABOSCO, Rubén Fernández-Santiago, Astrid Daniela Adarmes Gómez, Juan Carlos Martinez Castrillo, Sonja Scholz, Victoria Alvarez, Niccolò Emanuele Mencacci, Michael Weale, Thomas Gasser, Kari Majamaa, Adolfo Mínguez-Castellanos, Jose Bras, J. Raphael Gibbs, Monica Diez-Fairen, Ruth Lovering, Jon Infante, Juan A. Botía, Rita Guerreiro, John Hardy, Mario Ezquerra, Valentina Escott-Price, Arianna Tucci, Kin Ying Mok, Kerri J Kinghorn, Manuel Menéndez González, Janet Hoenicka, Njideka Okubadejo, Regina Reynolds, Alexis Brice, Ignacio Alvarez, Adaikalavan Ramasamy, Pille Taba, David Zhang, Lydia Vela-Desojo
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Guelfi, S, D’sa, K, Botía, J A, Vandrovcova, J, Reynolds, R H, Zhang, D, Trabzuni, D, Collado-torres, L, Thomason, A, Quijada Leyton, P, Gagliano Taliun, S A, Nalls, M A, Small, K S, Smith, C, Ramasamy, A, Hardy, J, Weale, M E & Ryten, M 2020, ' Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-14483-x
Nature communications, vol 11, iss 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications 11, 1041 (2020).
UCrea Repositorio Abierto de la Universidad de Cantabria
Nature communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Guelfi, S, D’sa, K, Botía, J A, Vandrovcova, J, Reynolds, R H, Zhang, D, Trabzuni, D, Collado-torres, L, Thomason, A, Quijada Leyton, P, Gagliano Taliun, S A, Nalls, M A, Small, K S, Smith, C, Ramasamy, A, Hardy, J, Weale, M E & Ryten, M 2020, ' Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-14483-x
Nature communications, vol 11, iss 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications 11, 1041 (2020).
UCrea Repositorio Abierto de la Universidad de Cantabria
Nature communications
International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC).
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric
Autor:
Niccolo E. Mencacci, Paola Forabosco, Juan A. Botía, John Hardy, Michael E. Weale, Kailash P. Bhatia, Regina H. Reynolds, Jana Vandrovcova, Mina Ryten, Sonia Garcia Ruiz
Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, including anxiety,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2764e3639867485d2c4154aebc9969
https://doi.org/10.1101/2020.01.31.928978
https://doi.org/10.1101/2020.01.31.928978