F
Francesca Puppo
Researcher at University of California, San Diego
Publications - 48
Citations - 695
Francesca Puppo is an academic researcher from University of California, San Diego. The author has contributed to research in topics: Medicine & Nanowire. The author has an hindex of 14, co-authored 38 publications receiving 557 citations. Previous affiliations of Francesca Puppo include Aix-Marseille University & Boston University.
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Journal ArticleDOI
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy
Nathalie Caruso,Balazs Herberth,Marc Bartoli,Francesca Puppo,Julie Dumonceaux,Angela K. Zimmermann,Simon Denadai,Marie Lebossé,Stéphane Roche,Linda Geng,Frédérique Magdinier,Shahram Attarian,Rafaëlle Bernard,Flavio Maina,Nicolas Lévy,Françoise Helmbacher +15 more
TL;DR: FAT1 is identified as a critical determinant of muscle form, misregulation of which associates with FSHD, and CGH array-based studies identified deletion polymorphisms within a putative regulatory enhancer of FAT1, predictive of tissue-specific depletion offat1 expression, which preferentially segregate with F SHD.
Journal ArticleDOI
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
Marie-Cécile Gaillard,Stéphane Roche,Camille Dion,Armand Tasmadjian,Gwenaëlle Bouget,Emmanuelle Salort-Campana,Catherine Vovan,Charlene Chaix,Natacha Broucqsault,Julia Morere,Francesca Puppo,Marc Bartoli,Nicolas Lévy,Rafaëlle Bernard,Shahram Attarian,Karine Nguyen,Frédérique Magdinier +16 more
TL;DR: This study provides Class III evidence that assays for hypomethylation within the D4Z4 region accurately distinguish patients with FSHD from individuals with D4 Z4 contraction without F SHD, and suggests that local hypometHylations within D4z4 might serve as a modifier for clinical expression of FSHd phenotype.
Journal ArticleDOI
A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.
Paola Griseri,Tiziana Bachetti,Francesca Puppo,Francesca Lantieri,Roberto Ravazzolo,Marcella Devoto,Marcella Devoto,Isabella Ceccherini +7 more
TL;DR: It is proposed that a yet unidentified variant in linkage disequilibrium with the ACA haplotype, rather than the single characterizing SNPs, acts as a HSCR susceptibility allele by affecting the normal amount of RET receptor on the cell surface.
Journal ArticleDOI
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.
Paola Griseri,Francesca Lantieri,Francesca Puppo,Tiziana Bachetti,Marco Di Duca,Roberto Ravazzolo,Isabella Ceccherini +6 more
TL;DR: It is demonstrated that the protective effect of this “protective” RET haplotype is due to a variant located in the 3′ untranslated region (UTR) of the RET gene, which slows down the physiological mRNA decay of the gene transcripts.
Journal ArticleDOI
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.
Francesca Puppo,Francesca Puppo,Eugénie Dionnet,Eugénie Dionnet,Marie-Cécile Gaillard,Marie-Cécile Gaillard,Pascaline Gaildrat,Christel Castro,Christel Castro,Catherine Vovan,Karine Bertaux,Rafaëlle Bernard,Shahram Attarian,Shahram Attarian,Kanako Goto,Ichizo Nishino,Yukiko K. Hayashi,Frédérique Magdinier,Frédérique Magdinier,Martin Krahn,Martin Krahn,Françoise Helmbacher,Marc Bartoli,Marc Bartoli,Nicolas Lévy,Nicolas Lévy +25 more
TL;DR: The data suggest that defective FAT1 is associated with an FSHD‐like phenotype, and a minigene approach coupled to an antisense oligonucleotide (AON) assay suggests that altered transcripts may affect FAT1 protein interactions or stability.