Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Caterina, Marconi"'
Autor:
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D. Halazonetis, Omar Zgheib, Simone Sabbioneda
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract DNA polymerase eta (Polη) is the only translesion synthesis polymerase capable of error-free bypass of UV-induced cyclobutane pyrimidine dimers. A deficiency in Polη function is associated with the human disease Xeroderma pigmentosum varia
Externí odkaz:
https://doaj.org/article/98bb223a95e14e1fac273cbabf508600
Autor:
Omar Zgheib, Lina Quteineh, Paloma Parvex, Caterina Marconi, Valerie Schwitzgebel, Massimiliano Bertacchi
Publikováno v:
Pediatric Discovery, Vol 2, Iss 1, Pp n/a-n/a (2024)
Abstract Nephrocalcinosis is a complex disease with a multitude of triggering factors. An association with congenital hypothyroidism has been described in the literature, but the mechanisms leading to its development remain unclear. A 7‐month‐old
Externí odkaz:
https://doaj.org/article/2283c18b07c14cb9ae4f402a2577c6bc
Autor:
Caterina Marconi, Alessandro Pecci, Flavia Palombo, Federica Melazzini, Roberta Bottega, Elena Nardi, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Tania Giangregorio, Pamela Magini, Carlo L. Balduini, Anna Savoia, Marco Seri, Patrizia Noris, Tommaso Pippucci
Publikováno v:
Haematologica, Vol 108, Iss 7 (2022)
Inherited thrombocytopenias (IT) are genetic diseases characterized by low platelet count, sometimes associated with congenital defects or a predisposition to develop additional conditions. Next-generation sequencing has substantially improved our kn
Externí odkaz:
https://doaj.org/article/1cc5ece1395d48538027f20c78325163
Autor:
Michela Faleschini, Nicole Papa, Marie-Christine Morel-Kopp, Caterina Marconi, Tania Giangregorio, Federica Melazzini, Valeria Bozzi, Marco Seri, Patrizia Noris, Alessandro Pecci, Anna Savoia, Roberta Bottega
Publikováno v:
Haematologica, Vol 107, Iss 1 (2021)
GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing, we id
Externí odkaz:
https://doaj.org/article/e909f17b60f74b0da29f7c331178c087
Autor:
Serena Barozzi, Christian A. Di Buduo, Caterina Marconi, Valeria Bozzi, Marco Seri, Francesca Romano, Alessandra Balduini, Alessandro Pecci
Publikováno v:
Haematologica, Vol 106, Iss 3 (2020)
Externí odkaz:
https://doaj.org/article/4bc3d7c85b94493483005ff6c2a09880
Autor:
Caterina Marconi, Ilaria Canobbio, Valeria Bozzi, Tommaso Pippucci, Giorgia Simonetti, Federica Melazzini, Silvia Angori, Giovanni Martinelli, Giuseppe Saglio, Mauro Torti, Ira Pastan, Marco Seri, Alessandro Pecci
Publikováno v:
Journal of Hematology & Oncology, Vol 10, Iss 1, Pp 1-4 (2017)
Abstract Thrombocytopenia 2 (THC2) is an inherited disorder caused by monoallelic single nucleotide substitutions in the 5’UTR of the ANKRD26 gene. Patients have thrombocytopenia and increased risk of myeloid malignancies, in particular, acute myel
Externí odkaz:
https://doaj.org/article/ad159ac6f59d40fba9b321792669966f
Autor:
Luca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, Albert Ian Mackintosh, Laura Licchetta, Emanuela Iovino, Yu Chi Liu, Caitlin A Bennett, Mark F Bennett, John A Damiano, Gábor Zsurka, Caterina Marconi, Tania Giangregorio, Pamela Magini, Marijn Kuijpers, Tanja Maritzen, Giuseppe Danilo Norata, Stéphanie Baulac, Laura Canafoglia, Marco Seri, Paolo Tinuper, Ingrid E Scheffer, Melanie Bahlo, Samuel F Berkovic, Michael S Hildebrand, Wolfram S Kunz, Lucio Giordano, Francesca Bisulli, Miriam Martini, Volker Haucke, Emilio Hirsch, Tommaso Pippucci
Epilepsy is one of the most frequent neurological diseases, with focal epilepsy accounting for the largest number of cases. The genetic alterations involved in focal epilepsy are far from being fully elucidated.Here, we show that defective lipid sign
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9587291da24e2aa9d2fa08dfdd6ec29b
https://hdl.handle.net/2434/935471
https://hdl.handle.net/2434/935471
Autor:
Siv Fokstuen, Frédérique Sloan-Béna, Elissavet Stathaki, Frédéric Masclaux, Francesca Mattioli, Caterina Marconi, Konstantinos Varvagiannis, Russia Ha-Vinh Leuchter, Michel Guipponi, Anne Vannier, Jean-Louis Blouin, Philippe Extermann, Laure Lemmens, Sacha Laurent, Purificacion Mendez, Joel Victor Fluss, Marc Abramowicz, Eva Hammar
Publikováno v:
Clinical Genetics
Clinical genetics, Vol. 100, No 3 (2021) pp. 329-333
Clinical genetics, Vol. 100, No 3 (2021) pp. 329-333
Arthrogryposis describes the presence of multiple joint‐contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative tr
Autor:
Patrizia Noris, Marco Seri, Marie-Christine Morel-Kopp, Anna Savoia, Roberta Bottega, Caterina Marconi, Alessandro Pecci, Federica Melazzini, Tania Giangregorio, Nicole Papa, Michela Faleschini, Valeria Bozzi
Publikováno v:
Haematologica. 107:260-267
GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing, we id
Autor:
Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Patrizia Noris, Chiara Gnan, Tommaso Pippucci, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Michael Doubek, Christian A. Di Buduo, Katerina Stano Kozubik, Lenka Radova, Giuseppe Loffredo, Sarka Pospisilova, Caterina Alfano, Marco Seri, Carlo L. Balduini, Alessandro Pecci, Anna Savoia
Publikováno v:
Haematologica, Vol 101, Iss 11 (2016)
ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematologic malignancies. To gain further information on this disorder, we searched fo
Externí odkaz:
https://doaj.org/article/6b19971dee8c490e89c338cc808590ce