Malattie Rare e Infezione da COVID-19

Casa Sollievo della Sofferenza è vicina alle persone affette da malattie rare ed alle loro famiglie anche in questo periodo di maggiore difficoltà.

Se avete domande sulle possibili interazioni tra la malattia rara di cui siete affetti e l'infezione da COVID-19 o se, a causa del temporaneo blocco nell'erogazione delle visite ordinarie, necessitate di entrare in contatto con lo specialista di riferimento della malattia rara di cui siete affetti potete contattare il nostro Sportello Malattie Rare.

Lo Sportello Malattie Rare di Casa Sollievo della Sofferenza è contattabile tramite email (malattierare@operapadrepio.it) o telefonicamente al numero 0882416384 (dal lunedì al venerdì, dalle 9.00 alle 13.00).

Genetica Medica

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Telefono: 0882 416350
Fax: 0882 411616
E-Mail: m.carella@operapadrepio.it

Dirigente Biologo Responsabile: Dott. Massimo Carella

Augello Bartolomeo

studio di malattie genetiche rare (sindrome di Williams e sindrome Kabuki), cancro (glioblastoma), Biobanche, genomica funzionale, biologia molecolare

Informazioni aggiuntive

  • Pubblicazioni Scientifiche:

    Totale pubblicazioni a partire dal 2011: 38


    2020; :

    Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

    Fusco C., Nardella G., Augello B., Boccafoschi F., Palumbo O., Fusaro L., Notarangelo A., Barbano R., Parrella P., Annicchiarico G., De Meco C., Micale L., Graziano P., Castori M.


    2020; ():

    Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.

    Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C


    2020; ():

    Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

    Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervas


    2019; 10(12):

    Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

    Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M


    2019; 40(): 101547

    Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.

    Malerba N, Benzoni P, Squeo GM, Milanesi R, Giannetti F, Sadleir LG, Poke G, Augello B, Croce AI, Barbuti A, Merla G


    2019; 28(13): 2133-2142

    Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

    Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M


    2018; ():

    Dissecting KMT2D missense mutations in Kabuki syndrome patients.

    Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G


    2018; 1865(6): 908-919

    TRIM50 regulates Beclin 1 proautophagic activity.

    Fusco C, Mandriani B, Di Rienzo M, Micale L, Malerba N, Cocciadiferro D, Sjøttem E, Augello B, Squeo GM, Pellico MT, Jain A, Johansen T, Fimia GM, Merla G


    2018; ():

    MYC-containing amplicons in acute myeloid leukemia: Genomic structures, evolution, and transcriptional consequences.

    LAbbate A, Tolomeo D, Cifola I, Severgnini M, Turchiano A, Augello B, Squeo G, D Addabbo P, Traversa D, Daniele G, Lonoce A, Pafundi M, Carella M, Palumbo O, Dolnik A, Muehlematter D, Schoumans J, Van Roy N, De Bellis G, Martinelli G, Merla G, Bullinger L


    2017; 19(1):

    Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

    Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G


    Journal of pediatric genetics. 2017; 6(2): 98-102

    A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

    Fusco C, Nittis P, Alfaiz AA, Pellico MT, Augello B, Malerba N, Zelante L, Reymond A, Merla G


    2016; ():

    Clock-genes and mitochondrial respiratory activity: Evidence of a reciprocal interplay.

    Scrima R, Cela O, Merla G, Augello B, Rubino R, Quarato G, Fugetto S, Menga M, Fuhr L, Relógio A, Piccoli C, Mazzoccoli G, Capitanio N


    2016; ():

    Clock genes-dependent acetylation of complex I sets rhythmic activity of mitochondrial OxPhos.

    Cela O, Scrima R, Pazienza V, Merla G, Benegiamo G, Augello B, Fugetto S, Menga M, Rubino R, Fuhr L, Relógio A, Piccoli C, Mazzoccoli G, Capitanio N


    2016; :

    Deregulated expression of cryptochrome genes in human colorectal cancer

    Mazzoccoli G., Colangelo T., Panza A., Rubino A., De Cata A., Tiberio C., Valvano M.R., Pazienza V., Merla G., Augello B., Trombetta D., Storlazzi C.T., Macchia G., Gentile A., Tavano F., Vinciguerra M., Bisceglia G., Rosato V., Colantuoni V., sabatino L.


    2015; 15(): 470

    TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival.

    Micale L, Fusco C, Fontana A, Barbano R, Augello B, De Nittis P, Copetti M, Pellico MT, Mandriani B, Cocciadiferro D, Parrella P, Fazio VM, Dimitri LM, D'Angelo V, Novielli C, Larizza L, Daga A, Merla G


    2015; ():

    7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

    Adamo A, Atashpaz S, Germain PL, Zanella M, D'Agostino G, Albertin V, Chenoweth J, Micale L, Fusco C, Unger C, Augello B, Palumbo O, Hamilton B, Carella M, Donti E, Pruneri G, Selicorni A, Biamino E, Prontera P, McKay R, Merla G, Testa G


    2014; 15(4): 237-42

    DPP6 gene disruption in a family with Gilles de la Tourette syndrome.

    Prontera P, Napolioni V, Ottaviani V, Rogaia D, Fusco C, Augello B, Serino D, Parisi V, Bernardini L, Merla G, Cavanna AE, Donti E


    2014; ():

    Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

    Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G,


    2014; ():

    TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation and Celiac Disease.

    Alfaiz AA, Micale L, Mandriani B, Augello B, Pellico MT, Chrast J, Xenarios I, Zelante L, Merla G, Reymond A


    XVI Congresso Nazionale SIGU 2013; : 15

    MicroRNA-139-5p regulates human TIM expression in colon cancer cell lines

    Panza A., Gentile A., Valvano R., Augello B., Tavano F., Merla G., Guarnieri V., Andriulli A., Mazzoccoli G., Piepoli A.

    2013; 45(12): 1003-10

    Genetic variants of membrane metallopeptidase genes in inflammatory bowel diseases.

    Tavano F, Palmieri O, di Mola FF, Latiano A, Burbaci FP, Valvano MR, Corritore G, Augello B, Merla G, Annese V, Andriulli A, di Sebastiano P


    2013; 26(2): 363-9

    HDAC6 mediates the acetylation of TRIM50.

    Fusco C, Micale L, Augello B, Mandriani B, Pellico MT, De Nittis P, Calcagnì A, Monti M, Cozzolino F, Pucci P, Merla G


    2013; 22(1): 64-70

    Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

    Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G


    Molecular Syndromology 2013; 4(3): 152-6

    Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

    Ratbi I, Fejjal N, Micale L, Augello B, Fusco C, Lyahyai J, Merla G, Sefiani A


    Molecular Syndromology 2013; 4(3): 143-7

    A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.

    Delgado LM, Gutierrez M, Augello B, Fusco C, Micale L, Merla G, Pastene EA


    2013; 8(4): e62144

    Associations between Genetic Polymorphisms in IL-33, IL1R1 and Risk for Inflammatory Bowel Disease.

    Latiano A, Palmieri O, Pastorelli L, Vecchi M, Pizarro TT, Bossa F, Merla G, Augello B, Latiano T, Corritore G, Settesoldi A, Valvano MR, D'Incà R, Stronati L, Annese V, Andriulli A


    2013; 1833(8): 1853-65

    Interplay between SOX9, ?-catenin and PPAR? activation in colorectal cancer.

    Panza A, Pazienza V, Ripoli M, Benegiamo G, Gentile A, Valvano MR, Augello B, Merla G, Prattichizzo C, Tavano F, Ranieri E, Sebastiano PD, Vinciguerra M, Andriulli A, Mazzoccoli G, Piepoli A


    2012; 11(3): 511-23

    TRIM8 modulates p53 activity to dictate cell cycle arrest.

    Caratozzolo MF, Micale L, Turturo MG, Cornacchia S, Fusco C, Marzano F, Augello B, D'Erchia AM, Guerrini L, Pesole G, Sbisà E, Merla G, Tullo A


    2012; ():

    MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

    Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Louise Izatt, Flores R, Galán E


    2012; 7(10): e46642

    A Fish-Specific Transposable Element Shapes the Repertoire of p53 Target Genes in Zebrafish.

    Micale L, Loviglio MN, Manzoni M, Fusco C, Augello B, Migliavacca E, Cotugno G, Monti E, Borsani G, Reymond A, Merla G


    2012; 107(3): 627-9

    Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

    Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G


    2012; 7(7): e40440

    The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome.

    Fusco C, Micale L, Egorov M, Monti M, D'Addetta EV, Augello B, Cozzolino F, Calcagnì A, Fontana A, Polishchuk RS, Didelot G, Reymond A, Pucci P, Merla G


    2012; 6-p448: s187

    Polymorphism in IL-33, IL1RL1 genes and risk of inflammatory bowel disease

    Latiano A, Palmieri O, Pastorelli L, Vecchi M, Pizarro T, Bossa F, Merla G, Augello B, Valvano MR, D'Incà R, Cucchiara S, Annese V, Andriulli A,

    XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 370

    ENSPM-N6_DR DNA transposons shape a repertoire of p53 target genes in zebrafish

    Loviglio MN, Micale L, Fusco C, Augello B, D'Addetta EV, Merla G

    XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 369

    Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients

    Micale L, Fusco C, Augello B, Loviglio MN, D'Addetta EV, Calcagnì A, Zelante L, merla G

    2011; ():

    Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.

    Cozzolino M, Augello B, Carella M, Palumbo O, Tavazzi B, Amorini AM, Lazzarino G, Merla G, Brunetti-Pierri N


    2011; :

    Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?

    Micale L, Augello B, Daniele G, Macchia G, L'Abbate A et al.

    2011; 6(1): 38

    Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients.

    Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Cirillo Silengo M, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagni A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S,


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