F
Francesca Clementina Radio
Researcher at Boston Children's Hospital
Publications - 70
Citations - 820
Francesca Clementina Radio is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 13, co-authored 50 publications receiving 456 citations. Previous affiliations of Francesca Clementina Radio include Sapienza University of Rome & Casa Sollievo della Sofferenza.
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Journal ArticleDOI
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
Christiane K. Bauer,Paolo Calligari,Francesca Clementina Radio,Viviana Caputo,Maria Lisa Dentici,Nadia Falah,Frances A. High,Francesca Pantaleoni,Sabina Barresi,Andrea Ciolfi,Simone Pizzi,Alessandro Bruselles,Richard E. Person,Sarah Richards,Megan T. Cho,Daniela J. Claps Sepulveda,S. Pro,Roberta Battini,Giuseppe Zampino,Maria Cristina Digilio,Gianfranco Bocchinfuso,Bruno Dallapiccola,Lorenzo Stella,Marco Tartaglia +23 more
TL;DR: It is reported that de novo missense mutations in KCNK4 cause a recognizable syndrome with a distinctive facial gestalt, for which the acronym FHEIG is proposed (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth).
Journal ArticleDOI
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Laura M Bryant,Dong Li,Samuel G. Cox,Dylan M. Marchione,Evan F. Joiner,Khadija Wilson,Kevin A. Janssen,Pearl Lee,Michael E. March,Divya Nair,Elliott H. Sherr,Brieana Fregeau,Klaas J. Wierenga,Alexandrea Wadley,Grazia M.S. Mancini,Nina Powell-Hamilton,Jiddeke M. van de Kamp,Theresa A. Grebe,John Dean,Alison Ross,Heather P. Crawford,Zöe Powis,Megan T. Cho,Marcia C. Willing,Linda Manwaring,Rachel Schot,Caroline Nava,Alexandra Afenjar,Davor Lessel,Matias Wagner,Thomas Klopstock,Thomas Klopstock,Juliane Winkelmann,Claudia B. Catarino,Kyle Retterer,Jane L. Schuette,Jeffrey W. Innis,Amy Pizzino,Amy Pizzino,Sabine Lüttgen,Jonas Denecke,Tim M. Strom,Kristin G. Monaghan,Ddd Study,Zuo-Fei Yuan,Holly Dubbs,Holly Dubbs,Renee Bend,Jennifer A. Lee,Michael J. Lyons,Julia Hoefele,Roman Günthner,Heiko Reutter,Boris Keren,Kelly Radtke,Omar Sherbini,Omar Sherbini,Cameron Mrokse,Katherine L. Helbig,Sylvie Odent,Benjamin Cogné,Sandra Mercier,Stéphane Bézieau,Thomas Besnard,Sébastien Küry,Richard Redon,Karit Reinson,Karit Reinson,Monica H. Wojcik,Monica H. Wojcik,Katrin Õunap,Katrin Õunap,Pilvi Ilves,A. Micheil Innes,Kristin D. Kernohan,Gregory Costain,M. Stephen Meyn,M. Stephen Meyn,David Chitayat,David Chitayat,Elaine H. Zackai,Anna Lehman,Hilary F Kitson,Causes Study,Martin G. Martin,Martin G. Martin,Julian A. Martinez-Agosto,Stan F. Nelson,Christina G.S. Palmer,Jeanette C. Papp,Neil H. Parker,Janet S. Sinsheimer,Eric Vilain,Jijun Wan,Amanda J. Yoon,Allison Zheng,Elise Brimble,Giovanni Battista Ferrero,Francesca Clementina Radio,Diana Carli,Sabina Barresi,Alfredo Brusco,Marco Tartaglia,Jennifer Muncy Thomas,Luis A. Umaña,Marjan M. Weiss,Garrett Gotway,K. E. Stuurman,Michelle L. Thompson,Kirsty McWalter,Constance T. R. M. Stumpel,Servi J. C. Stevens,Alexander P.A. Stegmann,Kristian Tveten,Arve Vøllo,Trine Prescott,Christina Fagerberg,Lone W. Laulund,Martin Jakob Larsen,Melissa Byler,Robert Roger Lebel,Anna C.E. Hurst,Joy Dean,Samantha A. Schrier Vergano,Jennifer Norman,Saadet Mercimek-Andrews,Juanita Neira,Margot I. Van Allen,Nicola Longo,Elizabeth A. Sellars,Raymond J. Louie,Sara S. Cathey,Elly Brokamp,Delphine Héron,Molly Snyder,Adeline Vanderver,Adeline Vanderver,Celeste Simon,Xavier de la Cruz,Xavier de la Cruz,Natalia Padilla,J. Gage Crump,Wendy K. Chung,Benjamin Garcia,Benjamin Garcia,Hakon Hakonarson,Elizabeth J. Bhoj +146 more
TL;DR: Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation, suggesting that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation.
Journal ArticleDOI
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Elisabetta Flex,Elisabetta Flex,Simone Martinelli,Anke Van Dijck,Andrea Ciolfi,Serena Cecchetti,Elisa Coluzzi,Luca Pannone,Cristina Andreoli,Francesca Clementina Radio,Simone Pizzi,Giovanna Carpentieri,Alessandro Bruselles,Giuseppina Catanzaro,Lucia Pedace,Evelina Miele,Elena Carcarino,Xiaoyan Ge,Xiaoyan Ge,Chieko Chijiwa,M. E. Suzanne Lewis,Marije Meuwissen,Sandra Kenis,Nathalie Van der Aa,Austin Larson,Kathleen Brown,Melissa P. Wasserstein,Brian G. Skotko,Amber Begtrup,Richard E. Person,Maria Karayiorgou,J. Louw Roos,Koen L.I. van Gassen,Marije Koopmans,Emilia K. Bijlsma,Gijs W. E. Santen,Daniela Q.C.M. Barge-Schaapveld,Claudia A. L. Ruivenkamp,Mariëtte J.V. Hoffer,Seema R. Lalani,Haley Streff,William J. Craigen,Brett H. Graham,Brett H. Graham,Annette P.M. van den Elzen,Daan J. Kamphuis,Katrin Õunap,Katrin Õunap,Karit Reinson,Karit Reinson,Sander Pajusalu,Sander Pajusalu,Sander Pajusalu,Monica H. Wojcik,Clara Viberti,Cornelia Di Gaetano,Enrico Bertini,Simona Petrucci,Simona Petrucci,Alessandro De Luca,Rossella Rota,Elisabetta Ferretti,Giuseppe Matullo,Bruno Dallapiccola,Antonella Sgura,Magdalena Walkiewicz,Magdalena Walkiewicz,R. Frank Kooy,Marco Tartaglia +68 more
TL;DR: This work identifies a direct link between aberrant chromatin remodeling, cellular senescence, and accelerated aging in germline frameshift mutations involving the C-terminal tail of HIST1H1E.
Journal ArticleDOI
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases
Emilie Letocart,Gérald Le Gac,Silvia Majore,Chandran Ka,Francesca Clementina Radio,Isabelle Gourlaouen,Carmelilia De Bernardo,Claude Férec,Paola Grammatico +8 more
TL;DR: Findings confirm that certain ferroportin mutations compromise the activity of hepcidin in iron homeostasis, mimicking hePCidin deficiency as described in all types of hemochromatosis.
Journal ArticleDOI
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Marialetizia Motta,Luca Pannone,Francesca Pantaleoni,Gianfranco Bocchinfuso,Francesca Clementina Radio,Serena Cecchetti,Andrea Ciolfi,Martina Di Rocco,Martina Di Rocco,Mariet W. Elting,Eva H. Brilstra,Stefania Boni,Laura Mazzanti,Federica Tamburrino,Larry Walsh,Katelyn Payne,Alberto Fernández-Jaén,Mythily Ganapathi,Wendy K. Chung,Dorothy K. Grange,Ashita Dave-Wala,Shalini C. Reshmi,Dennis Bartholomew,Danielle Mouhlas,Giovanna Carpentieri,Alessandro Bruselles,Simone Pizzi,Emanuele Bellacchio,Francesca Piceci-Sparascio,Christina Lißewski,Julia Brinkmann,Ronald R. Waclaw,Quinten Waisfisz,Koen L.I. van Gassen,Ingrid M. Wentzensen,Michelle M. Morrow,Sara Álvarez,Mónica Martínez-García,Alessandro De Luca,Luigi Memo,Giuseppe Zampino,Cesare Rossi,Marco Seri,Bruce D. Gelb,Martin Zenker,Bruno Dallapiccola,Lorenzo Stella,Carlos E. Prada,Carlos E. Prada,Simone Martinelli,Elisabetta Flex,Marco Tartaglia +51 more
TL;DR: The data support a model in which the identified pathogenic variants operate with counteracting effects on MAPK1 function by differentially impacting the ability of the kinase to interact with regulators and substrates, which likely explains the minor role of these variants as driver events contributing to oncogenesis.