Výsledky vyhledávání - "Francesca Del Vecchio Blanco"

Akademický článek

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

Abstract Heterozygous mutations in the gene encoding RagD GTPase were shown to cause a novel autosomal dominant condition characterized by kidney tubulopathy and cardiomyopathy. We previously demonstrated that RagD, and its paralogue RagC, mediate a

Externí odkaz: https://doaj.org/article/c0d4353e26904abf8698a54fb8a9d373

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Akademický článek

Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells

Autor: Emanuela Marchese, Marianna Caterino, Davide Viggiano, Armando Cevenini, Salvatore Tolone, Ludovico Docimo, Valentina Di Iorio, Francesca Del Vecchio Blanco, Roberta Fedele, Francesca Simonelli, Alessandra Perna, Vincenzo Nigro, Giovambattista Capasso, Margherita Ruoppolo, Miriam Zacchia

Publikováno v: iScience, Vol 25, Iss 11, Pp 105230- (2022)

Summary: Chronic kidney disease (CKD) is a major clinical sign of patients with Bardet-Biedl syndrome (BBS), especially in those carrying BBS10 mutations. Twenty-nine patients with BBS and 30 controls underwent a serum-targeted metabolomic analysis.

Externí odkaz: https://doaj.org/article/1da7ce450eea4c19b9c36a083be8d1fa

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Akademický článek

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

Autor: Claudia Santoro, Teresa Giugliano, Pia Bernardo, Federica Palladino, Annalaura Torella, Francesca del Vecchio Blanco, Maria Elena Onore, Marco Carotenuto, Vincenzo Nigro, Giulio Piluso

Publikováno v: BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)

Abstract Background Mutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson’s disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in about 50% of cases,

Externí odkaz: https://doaj.org/article/ba3fdb08416c48afb6f264b6ad67f487

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Akademický článek

Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency

Autor: Fabiola Di Dato, Donatella Capalbo, Rita Mirra, Francesca Del Vecchio Blanco, Mariacarolina Salerno, Raffaele Iorio

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Neonatal cholestasis (NC) may be due to multiple surgical and non-surgical causes, some of which are potentially fatal. The list of potential causes of NC is long, and the systematic search for each of them is challenging in infants, especially when

Externí odkaz: https://doaj.org/article/02e38417cc2f4d5083a6607124b47c9e

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Akademický článek

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Autor: Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca Del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro

Publikováno v: PLoS ONE, Vol 15, Iss 8, p e0237803 (2020)

A nonsense mutation adds a premature stop signal that hinders any further translation of a protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions, we used the DMD gene as an ideal model. First, because dystrop

Externí odkaz: https://doaj.org/article/dd4e40db90834c1f95e7d94240ed2a19

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Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically

Autor: Annalaura Torella, Alberto Budillon, Mariateresa Zanobio, Francesca Del Vecchio Blanco, Esther Picillo, Luisa Politano, Vincenzo Nigro, Giulio Piluso

Publikováno v: International Journal of Molecular Sciences; Volume 24; Issue 11; Pages: 9241

Disrupting variants in the DMD gene are associated with Duchenne or Becker muscular dystrophy (DMD/BMD) or with hyperCKemia, all of which present very different degrees of clinical severity. The clinical phenotypes of these disorders could not be dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767e2533e854d7b59edb274df63a57d2
https://hdl.handle.net/11591/499192

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Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies

Autor: Miriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco, Floriana Secondulfo, Neha Gupta, Giancarlo Blasio, Rosa Maria Pollastro, Angela Cervesato, Giulio Piluso, Giuseppe Gigliotti, Annalaura Torella, Vincenzo Nigro, Alessandra F. Perna, Giovambattista Capasso, Francesco Trepiccione

Publikováno v: Genes; Volume 14; Issue 3; Pages: 764

Mutations in COL4A3-A5 cause a spectrum of glomerular disorders, including thin basement membrane nephropathy (TBMN) and Alport syndrome (AS). The wide application of next-generation sequencing (NGS) in the last few years has revealed that mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfa13b92426ed1b517fe93e47931f29
https://doi.org/10.3390/genes14030764

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MO045THE APPLICATION OF A NGS KIDNEY PANEL REVEALED KEY CHALLENGES OF PKD1-2 ANALYSIS: INTERPRETATION OF MISSENSE VARIANTS, SIGNIFICANCE OF VARIANTS IN DUPLICATED REGIONS AND HIGH ALLELIC HETEROGENEITY

Autor: Francesca Del Vecchio Blanco, Giovambattista Capasso, Vincenzo Nigro, Giovanna Capolongo, Giancarlo Blasio, Alessandra F. Perna, Miriam Zacchia

Publikováno v: Nephrology Dialysis Transplantation. 36

Background and Aims Genetic testing has changed the clinical management of inherited kidney diseases patients, improving prognosis, surveillance and therapy. On the other hand, it has put geneticists and clinicians in front of new challenges, as the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f72df3ed7d50922b131abe9407e12dae
https://doi.org/10.1093/ndt/gfab080.0017

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Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients

Autor: Giancarlo Blasio, Francesco Trepiccione, Raffaele Raucci, Perna Alessandra, Vincenzo Nigro, Francesca Simonelli, Maria Elena Onore, Giovambattista Capasso, Valentina Di Iorio, Miriam Zacchia, Davide Viggiano, Emanuela Marchese, Caterina Vitagliano, Annalaura Torella, Francesca Del Vecchio Blanco

Publikováno v: Clinical Kidney Journal

BackgroundUrine concentrating defect is a common dysfunction in ciliopathies, even though its underlying mechanism and its prognostic meaning are largely unknown. This study assesses renal function in a cohort of 54 Bardet–Biedl syndrome (BBS) indi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c2ca195db58d8a553db0b12dd4d7765
http://hdl.handle.net/11591/455184

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Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Autor: Giulio Piluso, Francesco Musacchia, Maria Elena Onore, Annalaura Torella, Francesca Del Vecchio Blanco, Vincenzo Nigro, Mariateresa Zanobio, Paola D'Ambrosio

Publikováno v: Genes, Vol 12, Iss 133, p 133 (2021)
Genes
Volume 12
Issue 2

Next generation sequencing (NGS) has changed our approach to diagnosis of genetic disorders. Nowadays, the most comprehensive application of NGS is whole genome sequencing (WGS) that is able to detect virtually all DNA variations. However, even after

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a7fe8e6925007359e02632a1a07b1e6
https://www.mdpi.com/2073-4425/12/2/133

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