Zobrazeno 1 - 10 of 22 pro vyhledávání: '"Tiziana Fioretti"'
1
Akademický článek
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
Autor: Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito
Publikováno v: Biomedicines, Vol 12, Iss 5, p 1112 (2024)
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the
Externí odkaz: https://doaj.org/article/cf770a14d73143508ed72d9485ac9251
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2
Akademický článek
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily
Autor: Fabiana D’Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D’Alcamo
Publikováno v: Medicina, Vol 60, Iss 2, p 254 (2024)
Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts f
Externí odkaz: https://doaj.org/article/83b2da28abdc4e8788f1ab43b53ceb6c
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3
Akademický článek
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
Autor: Carmine Pecoraro, Tiziana Fioretti, Assunta Perruno, Antonella Klain, Daniela Cioffi, Adelaide Ambrosio, Diego Passaro, Luigi Annicchiarico Petruzzelli, Carmela Di Domenico, Domenico de Girolamo, Sabrina Vallone, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito
Publikováno v: Diagnostics, Vol 13, Iss 15, p 2552 (2023)
Pathogenic variants in the PHEX gene cause rare and severe X-linked dominant hypophosphataemia (XLH), a form of heritable hypophosphatemic rickets (HR) characterized by renal phosphate wasting and elevated fibroblast growth factor 23 (FGF23) levels.
Externí odkaz: https://doaj.org/article/9ad8804ee6eb4fa9a281b03d24995dea
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4
Akademický článek
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient
Autor: Tiziana Fioretti, Silvana Ungari, Maria Savarese, Fabio Cattaneo, Enza Pirozzi, Gabriella Esposito
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic dis
Externí odkaz: https://doaj.org/article/d4fe08388fa9448fbc198d452ff8a9b0
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5
Akademický článek
Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells
Autor: Tiziana Fioretti, Armando Cevenini, Mariateresa Zanobio, Maddalena Raia, Daniela Sarnataro, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito
Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 9, p 4623 (2021)
The chromosomal translocation t(4;11) marks an infant acute lymphoblastic leukemia associated with dismal prognosis. This rearrangement leads to the synthesis of the MLL-AF4 chimera, which exerts its oncogenic activity by upregulating transcription o
Externí odkaz: https://doaj.org/article/8c93ffc5c078499eb520d1ffb314dd5a
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6
Akademický článek
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients
Autor: Tiziana Fioretti, Luigi Auricchio, Angelo Piccirillo, Giuseppina Vitiello, Adelaide Ambrosio, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito
Publikováno v: Diagnostics, Vol 10, Iss 12, p 995 (2020)
Autosomal recessive congenital ichthyoses (ARCI) are rare genodermatosis disorders characterized by phenotypic and genetic heterogeneity. At least fourteen genes so far have been related to ARCI; however, despite genetic heterogeneity, phenotypes ass
Externí odkaz: https://doaj.org/article/26d0d8c3fff749afa4a4bc544a354f92
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8
MiR‐27a downregulates 14‐3‐3θ, RUNX1, AF4, and MLL‐AF4, crucial drivers of blast transformation in t(4;11) leukemia cells
Autor: Tiziana Fioretti, Mariateresa Zanobio, Maddalena Raia, Santa Errichiello, Barbara Izzo, Fabio Cattaneo, Rosario Ammendola, Armando Cevenini, Gabriella Esposito
The chromosomal translocation t(4;11)(q21;q23), a hallmark of an aggressive form of acute lymphoblastic leukemia (ALL), encodes mixed-lineage leukemia (MLL)-AF4 oncogenic chimera that triggers aberrant transcription of genes involved in lymphocyte di
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85fe2deda095c964cee076593597d8c9
http://hdl.handle.net/11588/896036
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9
Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription
Autor: Gabriella Esposito, Fabio Cattaneo, Valentina Di Iorio, Armando Cevenini, Tiziana Fioretti, Francesca Simonelli, Lucio Pastore, Barbara Lombardo, Francesca De Falco, Francesco Testa
Publikováno v: Genes
Genes, Vol 12, Iss 1111, p 1111 (2021)
Volume 12
Issue 8
Choroideremia (CHM) is a X-linked recessive chorioretinal dystrophy due to deficiency of the CHM gene product, i.e., Rab escort protein isoform 1 (REP1). To date, gene therapy for CHM has shown variable effectiveness, likely because the underlying pa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a94631e2d004dbf45d65308e0dc01579
http://europepmc.org/articles/PMC8392058
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10
Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells
Autor: Daniela Sarnataro, Fabio Cattaneo, Gabriella Esposito, Tiziana Fioretti, Mariateresa Zanobio, Maddalena Raia, Armando Cevenini, Rosario Ammendola
Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 4623, p 4623 (2021)
The chromosomal translocation t(4;11) marks an infant acute lymphoblastic leukemia associated with dismal prognosis. This rearrangement leads to the synthesis of the MLL-AF4 chimera, which exerts its oncogenic activity by upregulating transcription o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::565ff1d520271432133df191b391958c
https://www.mdpi.com/1422-0067/22/9/4623
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