G
Gianfranco Sebastio
Researcher at University of Naples Federico II
Publications - 85
Citations - 4172
Gianfranco Sebastio is an academic researcher from University of Naples Federico II. The author has contributed to research in topics: Lysinuric protein intolerance & Cystathionine beta synthase. The author has an hindex of 32, co-authored 85 publications receiving 4013 citations. Previous affiliations of Gianfranco Sebastio include International Institute of Minnesota.
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Journal ArticleDOI
Localization of the X inactivation centre on the human X chromosome in Xq13
Carolyn J. Brown,Ronald G. Lafreniere,Vicki E. Powers,Gianfranco Sebastio,Andrea Ballabio,Anjana L. Pettigrew,David H. Ledbetter,Elaine R. Levy,Ian W. Craig,Huntington F. Willard +9 more
TL;DR: An analysis of several rearranged human X chromosomes is reported and a minimal region of overlap is defined that is consistent with models invoking a single XIC and provide a molecular foothold for cloning and analysing the XIC region.
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Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
Wendy N. Cooper,Anita Luharia,Gail A Evans,Hussain Raza,Antonita C Haire,Richard Grundy,Sarah Bowdin,Andrea Riccio,Gianfranco Sebastio,Jet Bliek,Paul N. Schofield,Wolf Reik,Fiona Macdonald,Eamonn R. Maher +13 more
TL;DR: Identification of the molecular subtype allows more accurate prognostic predictions and enhances the management and surveillance of BWS children such that screening for Wilms’ tumour and hepatoblastoma can be focused on those at highest risk.
Journal ArticleDOI
Cystathionine β‐synthase mutations in homocystinuria
Jan P. Kraus,Miroslav Janosik,Viktor Kožich,Roseann Mandell,Vivian E. Shih,Maria Pia Sperandeo,Gianfranco Sebastio,Raffaella de Franchis,Generoso Andria,Leo A. J. Kluijtmans,Henk J. Blom,Godfried H.J. Boers,Ross B. Gordon,Pierre Kamoun,Michael Y. Tsai,Warren D. Kruger,Hans G. Koch,Toshihiro Ohura,Mette Gaustadnes +18 more
TL;DR: Ninety‐two different disease‐associated mutations have been identified in the CBS gene in 310 examined homocystinuric alleles in more than a dozen laboratories around the world, and most of these mutations are missense, and the vast majority of these are private mutations.
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SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
Giuseppe Borsani,Maria Teresa Bassi,Maria Pia Sperandeo,Alessandro De Grandi,Anna Buoninconti,Mirko Riboni,Marta Manzoni,Barbara Incerti,Antonio Pepe,Generoso Andria,Andrea Ballabio,Gianfranco Sebastio +11 more
TL;DR: Two new transcripts homologous to amino acid transporters, highly expressed in kidney and mapping in the LPI critical region are identified and Mutational analysis of both transcripts revealed that SLC7A7 (for solute carrier family 7, member 7) is mutated in LPI.
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The human urokinase-plasminogen activator gene and its promoter
Andrea Riccio,Giovanna Grimaldi,Pasquale Verde,Gianfranco Sebastio,Sharon Boast,Francesco Blasi +5 more
TL;DR: The urokinase type of plasminogen activator (uPA) is subject to regulation by hormones, phorbol esters and oncogenic transformation, and has been suggested to play a key role in processes involving cell migration and tissue remodeling, and to be essential for tumor metastasis.