F
Francesco Salvatore
Researcher at University of Naples Federico II
Publications - 444
Citations - 11778
Francesco Salvatore is an academic researcher from University of Naples Federico II. The author has contributed to research in topics: Gene & Aldolase A. The author has an hindex of 48, co-authored 433 publications receiving 10347 citations. Previous affiliations of Francesco Salvatore include University of Bologna & Argonne National Laboratory.
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Journal ArticleDOI
Characterization of the transcription-initiation site and of the promoter region within the 5' flanking region of the human aldolase C gene.
TL;DR: Preliminary functional assays of the promoter by transfection into rat glioma cells have indicated that promoter elements lie between positions -161 and -416 from the start point of transcription.
Journal ArticleDOI
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.
Rita Santamaria,Gabriella Esposito,Luigi Vitagliano,Vincenza Race,Immacolata Paglionico,Lucia Zancan,Adriana Zagari,Francesco Salvatore +7 more
TL;DR: The results show that theArg(303)-->Gln substitution is a novel mutation causing hereditary fructose intolerance and provide a functional demonstration that Arg(303), a conserved residue in all vertebrate aldolases, has a dominant role in substrate binding during enzyme catalysis.
Clinical Report Holt-Oram Syndrome Associated With Anomalies of the Feet
Livia Garavelli,D. De Brasi,R. Verri,E. Guareschi,F. Cariola,Daniela Melis,Giuseppe Calcagno,Francesco Salvatore,Sheila Unger,Gianfranco Sebastio,Giuseppe Albertini,Francesca Rivieri,F. Soli,Andrea Superti-Furga,Mattia Gentile,S. Maria,Asl Bari +16 more
TL;DR: In this article, the authors discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis.
Journal ArticleDOI
A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.
Marcella Nunziato,Maria Valeria Esposito,Flavio Starnone,Maria Angela Diroma,Alessandra Calabrese,Valentina Del Monaco,Pasqualina Buono,Giuseppe Frasci,Gerardo Botti,Massimiliano D’Aiuto,Francesco Salvatore,Valeria D'Argenio +11 more
TL;DR: The results show that this molecular screening will increase diagnostic sensitivity leading to a better risk assessment in breast cancer patients and their families and could also reveal genes that have a higher penetrance for breast and ovarian cancers by matching gene mutation with familial and clinical data.