E
Elisa Taschin
Researcher at University of Padua
Publications - 18
Citations - 1363
Elisa Taschin is an academic researcher from University of Padua. The author has contributed to research in topics: Germline mutation & Paraganglioma. The author has an hindex of 10, co-authored 16 publications receiving 1189 citations.
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Journal ArticleDOI
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
Iñaki Comino-Méndez,Francisco Javier Gracia-Aznarez,Francesca Schiavi,Iñigo Landa,Luis J Leandro-García,Rocío Letón,Emiliano Honrado,Rocío Ramos-Medina,Daniela Caronia,Guillermo Pita,Álvaro Gómez-Graña,Aguirre A. de Cubas,Lucía Inglada-Pérez,Agnieszka Maliszewska,Elisa Taschin,Sara Bobisse,Giuseppe Pica,Paola Loli,Rafael Hernández-Lavado,José Ángel Díaz,Mercedes Gómez-Morales,Anna González-Neira,Giovanna Roncador,Cristina Rodríguez-Antona,Javier Benitez,Massimo Mannelli,Giuseppe Opocher,Mercedes Robledo,Alberto Cascón +28 more
TL;DR: The involvement of the MYC-MAX-MXD1 network in the development and progression of neural crest cell tumors is supported and the lack of functional MAX in rat PCC (PC12) cells is supported, which suggests that loss of MAX function is correlated with metastatic potential.
Journal ArticleDOI
MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Nelly Burnichon,Alberto Cascón,Francesca Schiavi,Nicole Paes Morales,Iñaki Comino-Méndez,N. Abermil,Lucía Inglada-Pérez,Aguirre A. de Cubas,Laurence Amar,Marta Barontini,Sandra Bernaldo de Quirós,Jérôme Bertherat,Yves-Jean Bignon,Marinus J. Blok,Sara Bobisse,Salud Borrego,Maurizio Castellano,Philippe Chanson,María-Dolores Chiara,Eleonora P M Corssmit,M. Giacchè,Ronald R. de Krijger,Tonino Ercolino,Xavier Girerd,Encarna B. Gomez-Garcia,Álvaro Gómez-Graña,Isabelle Guilhem,Frederik J. Hes,Emiliano Honrado,Esther Korpershoek,Jacques W.M. Lenders,Rocío Letón,Arjen R. Mensenkamp,Anna Merlo,Luigi Mori,Arnaud Murat,Peggy Pierre,Pierre-François Plouin,Tamara Prodanov,Miguel Quesada-Charneco,Nan Qin,Elena Rapizzi,Victoria M. Raymond,Nicole Reisch,Giovanna Roncador,Macarena Ruiz-Ferrer,F Schillo,Alexander P.A. Stegmann,Carlos Suárez,Elisa Taschin,Henri J L M Timmers,Carli M. J. Tops,Miguel Urioste,Felix Beuschlein,Karel Pacak,Massimo Mannelli,Patricia L. M. Dahia,Giuseppe Opocher,Graeme Eisenhofer,Anne-Paule Gimenez-Roqueplo,Mercedes Robledo +60 more
TL;DR: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients.
Journal ArticleDOI
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas
Li Yao,F. Schiavi,Alberto Cascón,Yuejuan Qin,Lucía Inglada-Pérez,Elizabeth E. King,Rodrigo A. Toledo,Tonino Ercolino,Elena Rapizzi,Christopher J. Ricketts,Luigi Mori,M. Giacchè,Antonella Mendola,Elisa Taschin,Francesca Boaretto,Paola Loli,Maurizio Iacobone,Gian Paolo Rossi,Bernadette Biondi,José Viana Lima-Junior,Claudio E. Kater,Marie Bex,Miikka Vikkula,Ashley B. Grossman,Stephen B. Gruber,Marta Barontini,Alexandre Persu,Maurizio Castellano,Sergio P. A. Toledo,Eamonn R. Maher,Massimo Mannelli,Giuseppe Opocher,Mercedes Robledo,Patricia L. M. Dahia +33 more
TL;DR: Germline mutations of FP/ TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms, and disease-associated mutations disrupt intracellular distribution of the FP/TMEM127 protein.
Journal ArticleDOI
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention
Birke Bausch,Francesca Schiavi,Ying Ni,Jenny Welander,Attila Patócs,Attila Patócs,Joanne Ngeow,Ulrich F. Wellner,Angelica Malinoc,Elisa Taschin,Giovanni Barbon,Virginia Lanza,Peter Söderkvist,Adam Stenman,Catharina Larsson,Fredrika Svahn,Jinlian Chen,Jessica Marquard,Merav Fraenkel,Martin A. Walter,Mariola Pęczkowska,Aleksander Prejbisz,Barbara Jarzab,Kornelia Hasse-Lazar,Stephan Petersenn,Lars C. Moeller,Almuth Meyer,Nicole Reisch,Arnold Trupka,Christoph Brase,Matthias Galiano,Simon F. Preuss,Pingling Kwok,Nikoletta Lendvai,Gani Berisha,Özer Makay,Carsten Christof Boedeker,Georges Weryha,Károly Rácz,Andrzej Januszewicz,Martin K. Walz,Oliver Gimm,Giuseppe Opocher,Charis Eng,Hartmut P. H. Neumann +44 more
TL;DR: The SDHA, TMEM127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma and Gene-specific prevention and/or early detection requires regular, systematic whole-body investigation.
Journal ArticleDOI
Amniotic fluid stem cells restore the muscle cell niche in a HSA-Cre, Smn(F7/F7) mouse model.
Martina Piccoli,Chiara Franzin,Enrica Bertin,Luca Urbani,Bert Blaauw,Andrea Repele,Elisa Taschin,Angelo Cenedese,Giovanni Franco Zanon,Isabelle André-Schmutz,Antonio Rosato,Judith Melki,Marina Cavazzana-Calvo,Marina Cavazzana-Calvo,Marina Cavazzana-Calvo,Michela Pozzobon,Paolo De Coppi,Paolo De Coppi +17 more
TL;DR: It is demonstrated that tail vein transplantation of mouse amniotic fluid stem (AFS) cells enhances the muscle strength and improves the survival rate of the affected animals and secondary transplants of satellite cells derived from treated mice show that AFS cells integrate into the muscle stem cell compartment and have long‐term muscle regeneration capacity indistinguishable from that of wild‐type‐derived SC.