Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Elisabetta, Flex"'
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
Autor:
Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Heterotopic ossification is a disorder caused by abnormal mineralization of soft tissues in which signaling pathways such as BMP, TGFβ and WNT are known key players in driving ectopic bone formation. Identifying novel genes and pathways rel
Externí odkaz:
https://doaj.org/article/4848e7ed684e495f8ace27fcba8b8f77
Autor:
Chloé Arfeuille, Yoann Vial, Margaux Cadenet, Aurélie Caye-Eude, Odile Fenneteau, Quentin Neven, Adeline A Bonnard, Simone Pizzi, Giovanna Carpentieri, Yline Capri, Katia Girardi, Lucia Pedace, Marina Macchiaiolo, Kamel Boudhar, Monia ben Khaled, Wadih Abou Chahla, Anne Lutun, Mony Fahd, Séverine Drunat, Elisabetta Flex, Jean-Hugues Dalle, Marion Strullu, Franco Locatelli, Marco Tartaglia, Hélène Cavé
Publikováno v:
Haematologica, Vol 999, Iss 1 (2023)
Juvenile myelomonocytic leukemia (JMML) is a rare, generally aggressive myeloproliferative neoplasm affecting young children. It is characterized by granulomonocytic expansion, with monocytosis infiltrating peripheral tissues. JMML is initiated by mu
Externí odkaz:
https://doaj.org/article/65e8c5154d52490e9ade2007b367450e
Autor:
Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/81fd3b11d7934ebcb13c04401024e74d
Autor:
Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenot
Externí odkaz:
https://doaj.org/article/00d3519f53554870842d7266f4fbf9a4
Autor:
Maria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, Giovanna Carpentieri, Barbara Torres, Anca Daniela Deac, Serena Cecchetti, Anna Martinelli, Alessandro Vaisfeld, Elisabetta Flex, Laura Bernardini
Publikováno v:
Diagnostics, Vol 12, Iss 10, p 2354 (2022)
NONO (Non-Pou Domain-Containing Octamer-Binding Protein) gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), c
Externí odkaz:
https://doaj.org/article/566bf27df2ff401b80fe9b0f7f2ca8dd
Autor:
Simona Camero, Giulia Vitali, Paola Pontecorvi, Simona Ceccarelli, Eleni Anastasiadou, Francesca Cicchetti, Elisabetta Flex, Silvia Pomella, Matteo Cassandri, Rossella Rota, Francesco Marampon, Cinzia Marchese, Amalia Schiavetti, Francesca Megiorni
Publikováno v:
Cells, Vol 10, Iss 11, p 2956 (2021)
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in childhood. Recently, we demonstrated the overexpression of both DNA methyltransferase 3A (DNMT3A) and 3B (DNMT3B) in RMS tumour biopsies and cell lines compared to normal skeletal muscl
Externí odkaz:
https://doaj.org/article/664cd9295ee447589ec4efc14f072f15
Autor:
Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L Welch, Paolo C Colombo, Stephanie M Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K Chung, Filippo Del Bene, Marco Tartaglia
Publikováno v:
Human Molecular Genetics. 32:473-488
Kinesins are motor proteins involved in microtubule (MT)-mediated intracellular transport. They contribute to key cellular processes, including intracellular trafficking, organelle dynamics and cell division. Pathogenic variants in kinesin-encoding g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce735168d1071ffa9c3db6983965726
https://doi.org/10.1093/hmg/ddac213
https://doi.org/10.1093/hmg/ddac213
Autor:
Valentina Muto, Federica Benigni, Valentina Magliocca, Rossella Borghi, Elisabetta Flex, Valentina Pallottini, Alessandro Rosa, Claudia Compagnucci, Marco Tartaglia
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 9; Pages: 7988
Induced pluripotent stem cells (iPSCs) have been established as a reliable in vitro disease model system and represent a particularly informative tool when animal models are not available or do not recapitulate the human pathophenotype. The recognize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5c145977b0c215105e9794373902cd
Autor:
Chiara Leoni, Cristian Bisanti, Germana Viscogliosi, Roberta Onesimo, Miriam Massese, Valentina Giorgio, Fabio Corbo, Anna Acampora, Clelia Cipolla, Elisabetta Flex, Claudia Dell'Atti, Donato Rigante, Marco Tartaglia, Giuseppe Zampino
Publikováno v:
American Journal of Medical Genetics Part A. 188:422-430
Costello syndrome (CS) is a neurodevelopmental disorder with a distinctive musculoskeletal phenotype and reduced bone mineral density (BMD) caused by activating de novo mutations in the HRAS gene. Herein, we report the results of a prospective study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45f3c9b42192a587ec93932cb1c7610
https://doi.org/10.1002/ajmg.a.62615
https://doi.org/10.1002/ajmg.a.62615
Autor:
Laura Mercurio, Francesca Megiorni, Chiara Leoni, Daniele Pietrucci, Teresa Rizza, Egidio Iorio, Giuseppe Zampino, Giovanna Carpentieri, Massimo Tatti, Simona Camero, Serena Cecchetti, Elisabetta Flex, Roberta Onesimo, Giovanni Chillemi, Cinzia Marchese, Valentina Tirelli, Donatella Pietraforte, Rosalba Carrozzo, Sara Rinalducci, Michela Di Nottia, Deborah Pajalunga, Antonio Belardo, Marco Tartaglia
Publikováno v:
Human Molecular Genetics. 31:561-575
Germline-activating mutations in HRAS cause Costello syndrome (CS), a cancer prone multisystem disorder characterized by reduced postnatal growth. In CS, poor weight gain and growth are not caused by low caloric intake. Here, we show that constitutiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39d78c26b3094248ad82925be380ac68
https://doi.org/10.1093/hmg/ddab270
https://doi.org/10.1093/hmg/ddab270