Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Marchesa Bilio"'
Autor:
Gabriella Lania, Monica Franzese, Noritaka Adachi, Marchesa Bilio, Gemma Flore, Annalaura Russo, Erika D'Agostino, Claudia Angelini, Robert G. Kelly, Antonio Baldini
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 9 (2022)
Externí odkaz:
https://doaj.org/article/e14444d7bc5a479dafb4d2f3e60dd9c8
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 3 (2021)
The Ezh2 gene encodes a histone methyltransferase of the polycomb repressive complex 2 that methylates histone H3 lysine 27. In this study, we investigated whether EZH2 has a role in the development of the pharyngeal apparatus and whether it regulate
Externí odkaz:
https://doaj.org/article/4e159f1d26604f0b81f536acabbf3fdb
Autor:
Gioia Mastromoro, Giulio Calcagni, Paolo Versacci, Carolina Putotto, Marcello Chinali, Caterina Lambiase, Marta Unolt, Elena Pelliccione, Silvia Anaclerio, Cinzia Caprio, Sara Cioffi, Marchesa Bilio, Anwar Baban, Fabrizio Drago, Maria Cristina Digilio, Bruno Marino, Antonio Baldini
Publikováno v:
PLoS ONE, Vol 14, Iss 4, p e0211170 (2019)
INTRODUCTION AND HYPOTHESIS:Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns of cardiac defects, with a particular involvement on the ventricular outflow tract and great arteries. However, in this gen
Externí odkaz:
https://doaj.org/article/b11194a58e96490993baa88b1b30daeb
Autor:
Luna Simona Pane, Filomena Gabriella Fulcoli, Andrea Cirino, Alessandra Altomonte, Rosa Ferrentino, Marchesa Bilio, Antonio Baldini
Publikováno v:
Disease Models & Mechanisms, Vol 11, Iss 9 (2018)
The TBX1 gene is haploinsufficient in 22q11.2 deletion syndrome (22q11.2DS), and genetic evidence from human patients and mouse models points to a major role of this gene in the pathogenesis of this syndrome. Tbx1 can activate and repress transcripti
Externí odkaz:
https://doaj.org/article/e27f6255fce94fab87deb35d721f3b0a
Autor:
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R Davidson, Pascal Dollé, Stylianos E Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A Baldock, Gregor Eichele, Andrea Ballabio
Publikováno v:
PLoS Biology, Vol 9, Iss 1, p e1000582 (2011)
Ascertaining when and where genes are expressed is of crucial importance to understanding or predicting the physiological role of genes and proteins and how they interact to form the complex networks that underlie organ development and function. It i
Externí odkaz:
https://doaj.org/article/53f4f9a3fc1a40e48974380ea4a8229d
Autor:
Sara Cioffi, Gemma Flore, Stefania Martucciello, Marchesa Bilio, Maria Giuseppina Turturo, Elizabeth Illingworth
The loss of a single copy of TBX1 accounts for most of the clinical signs and symptoms of 22q11.2 deletion syndrome (22q11.2DS), a common genetic disorder that is characterized by multiple congenital anomalies and brain-related clinical problems, som
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3018000b62a6090661eb6491c88afd0b
https://doi.org/10.1101/2022.03.16.484566
https://doi.org/10.1101/2022.03.16.484566
Autor:
Gabriella Lania, Monica Franzese, Adachi Noritaka, Marchesa Bilio, Annalaura Russo, Erika D’Agostino, Claudia Angelini, Robert G. Kelly, Antonio Baldini
TBX1 is a key regulator of pharyngeal apparatus (PhAp) development. Vitamin B12 treatment partially rescues aortic arch patterning defects of Tbx1+/- embryos. Here we show that it also improves cardiac outflow tract septation and branchiomeric muscle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e66ad641581c224c0b8fc0b437aa8109
https://doi.org/10.1101/2021.12.07.471208
https://doi.org/10.1101/2021.12.07.471208
Autor:
Karali, Marianthi, Peluso, Ivana, Gennarino, Vincenzo A, Marchesa Bilio, Verde, Roberta, Lago, Giampiero, Dollé, Pascal, Banfi, Sandro
Additional file 3:Gene Ontology analysis of the predicted targets of selected sub-clusters of miRNAs with comparable expression profiles. Schematic representation of selected GO/KEGG categories relevant to eye development and function that were enric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5657a8fe1fba35216363e0823fb30e2d
Autor:
Maria Giuseppina Turturo, Stefania Martucciello, Marchesa Bilio, Elizabeth Illingworth, Antonio Baldini, Li Chen, Sara Cioffi
Publikováno v:
The FASEB journal 34 (2020): 15062–15079. doi:10.1096/fj.201902202R
info:cnr-pdr/source/autori:Martucciello S.; Turturo M.G.; Bilio M.; Cioffi S.; Chen L.; Baldini A.; Illingworth E./titolo:A dual role for Tbx1 in cardiac lymphangiogenesis through genetic interaction with Vegfr3/doi:10.1096%2Ffj.201902202R/rivista:The FASEB journal/anno:2020/pagina_da:15062/pagina_a:15079/intervallo_pagine:15062–15079/volume:34
info:cnr-pdr/source/autori:Martucciello S.; Turturo M.G.; Bilio M.; Cioffi S.; Chen L.; Baldini A.; Illingworth E./titolo:A dual role for Tbx1 in cardiac lymphangiogenesis through genetic interaction with Vegfr3/doi:10.1096%2Ffj.201902202R/rivista:The FASEB journal/anno:2020/pagina_da:15062/pagina_a:15079/intervallo_pagine:15062–15079/volume:34
The transcription factor TBX1 is the major gene implicated in 22q11.2 deletion syndrome (22q11.2DS). The complex clinical phenotype includes vascular anomalies and a recent report presented new cases of primary lymphedema in 22q11.2DS patients. We ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0132a42bb2fe14e6ec084774f4e75b
http://hdl.handle.net/11588/841611
http://hdl.handle.net/11588/841611
Autor:
Marchesa Bilio, Cinzia Caprio, Gennaro Ilardi, Daniela Alfano, Stefania Staibano, Antonio Baldini, Federica Feo, Rosa Ferrentino, Daniela Russo, Silvia Varricchio, Caterina Missero
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 2, p 607 (2020)
International journal of molecular sciences (Online) 21 (2020). doi:10.3390/ijms21020607
info:cnr-pdr/source/autori:Caprio C.; Varricchio S.; Bilio M.; Feo F.; Ferrentino R.; Russo D.; Staibano S.; Alfano D.; Missero C.; Ilardi G.; Baldini A./titolo:Tbx1 and basal cell carcinoma: Expression and interactions with gli2 and dvl2 signaling/doi:10.3390%2Fijms21020607/rivista:International journal of molecular sciences (Online)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:21
International Journal of Molecular Sciences
Volume 21
Issue 2
International journal of molecular sciences (Online) 21 (2020). doi:10.3390/ijms21020607
info:cnr-pdr/source/autori:Caprio C.; Varricchio S.; Bilio M.; Feo F.; Ferrentino R.; Russo D.; Staibano S.; Alfano D.; Missero C.; Ilardi G.; Baldini A./titolo:Tbx1 and basal cell carcinoma: Expression and interactions with gli2 and dvl2 signaling/doi:10.3390%2Fijms21020607/rivista:International journal of molecular sciences (Online)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:21
International Journal of Molecular Sciences
Volume 21
Issue 2
Early events of basal cell carcinoma (BCC) tumorigenesis are triggered by inappropriate activation of SHH signaling, via the loss of Patched1 (Ptch1) or by activating mutations of Smoothened (Smo). TBX1 is a key regulator of pharyngeal development, m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0ad998bc9733f64b8e5e43a99fc76a
https://www.mdpi.com/1422-0067/21/2/607
https://www.mdpi.com/1422-0067/21/2/607