MIANO, MARIA GIUSEPPINA
MIANO, MARIA GIUSEPPINA
Istituto di genetica e biofisica "Adriano Buzzati Traverso"- IGB - Sede Napoli
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
2023 Leonardi, Emanuela; Cristina Aspromonte, Maria; Drongitis, Denise; Bettella, Elisa; Verrillo, Lucia; Polli, Roberta; Mcentagart, Meriel; Licchetta, Laura; Dilena, Robertino; D'Arrigo, Stefano; Ciaccio, Claudia; Esposito, Silvia; Leuzzi, Vincenzo; Torella, Annalaura; Baldo, Demetrio; Lonardo, Fortunato; Bonato, Giulia; Pellegrin, Serena; Stanzial, Franco; Posmyk, Renata; Kaczorowska, Ewa; Carecchio, Miryam; Gos, Monika; Rzocaniewczas, Sylwia; Miano, MARIA GIUSEPPINA; Murgia, Alessandra
Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases
2023 Verrillo, Lucia; Di Palma, Rosita; de Bellis, Alberto; Drongitis, Denise; Miano, MARIA GIUSEPPINA
A novel splicing SCN2A mutation in an adolescent with low functioning autism, acute dystonic movement disorder and late-onset generalized epilepsy
2022 Alagia, Marianna; Fecarotta, Simona; Romano, Alfonso; Parrini, Elena; Auricchio, Gianfranca; Miano, MARIA GIUSEPPINA; Terrone, Gaetano
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy
2022 Drongitis, D; Caterino, M; Verrillo, L; Santonicola, P; Costanzo, M; Poeta, L; Attianese, B; Barra, A; Terrone, G; Lioi, Mb; Paladino, S; Di Schiavi, E; Costa, V; Ruoppolo, M; Miano, Mg
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
2022 Poeta, L; Malacarne, M; Padula, A; Drongitis, D; Verrillo, L; Lioi, Mb; Chiariello, Am; Bianco, S; Nicodemi, M; Piccione, M; Salzano, E; Coviello, D; Miano, Mg
The Chromatin-Oxygen Sensor Gene KDM5C Associates with Novel Hypoxia-Related Signatures in Glioblastoma Multiforme.
2022 Drongitis, D; Verrillo, L; De Marinis, P; Orabona, P; Caiola, A; Turitto, G; Alfieri, A; Bruscella, S; Gentile, M; Moriello, V; Sannino, E; Di Muccio, I; Costa, V; Miano, Mg; de Bellis, A.
A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells
2021 Verrillo, L; Mangano, E; Drongitis, D; Merelli, I; Pischedda, F; Piccoli, G; Consolandi, C; Bordoni, R; Miano, Mg
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures
2021 Poeta, L; Padula, A; Lioi, Mb; van Bokhoven, H; Miano, Mg
DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms
2020 Poeta, Loredana; Drongitis, Denise; Verrillo, Lucia; Miano, MARIA GIUSEPPINA
Preservation of neurons in an AD 79 vitrified human brain
2020 Petrone, P; Giordano, G; Vezzoli, E; Pensa, A; Castaldo, G; Graziano, V; Sirano, F; Capasso, E; Quaremba, G; Vona, A; Miano, Mg; Savino, S; Niola, M
Analysis of cortical gene expression variability in a mouse model of X-linked Infantile spsms syndrome
2019 Verrillo L; Tuccillo M; Drongitis D; Mangano E; Franco C; Terrone G; Canzoniero MT; Del Giudice E; Bordoni R; Poeta L; Miano MG.
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
2019 Poeta, L; Padula, A; Attianese, B; Valentino, M; Verrillo, L; Filosa, S; Shoubridge, C; Barra, A; Schwartz, Ce; Christensen, J; van Bokhoven, H; Helin, K; Lioi, Mb; Collombat, P; Gecz, J; Altucci, L; Di Schiavi, E; Miano, Mg
A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays
2018 Frost, S; Padula, A; Pedersen, I S; Le, V Q; Ernst, A; Nielsen, I K; Miano, M G; Petersen, M B
Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model"
2018 Padula, A.; Poeta, L.; Shoubridge, C.; Valentino, M.; Attianese, B.; vanBokhoven, H.; Filosa, S.; Gecz, J.; Altucci, L.; Miano, M.
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease
2014 Conte MI; Pescatore A; Paciolla M; Esposito E; Miano MG; Lioi MB; McAleer MA; Giardino G; Pignata C; Irvine AD; Scheuerle AE; Royer G; HadjRabia S; Bodemer C; Bonnefont JP; Munnich A; Smahi A; Steffann J; Fusco F;Ursini MV
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
2013 Poeta, L; Fusco, F; Drongitis, D; Shoubridge, C; Manganelli, G; Filosa, S; Paciolla, M; Courtney, M; Collombat, P; Lioi, Mb; Gecz, J; Ursini, Mv; Miano, Mg
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
2012 Fusco, F; Paciolla, M; Napolitano, F; Pescatore, A; D'Addario, I; Bal, E; Lioi, Mb; Smahi, A; Miano, Mg; Ursini, Mv
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.
2011 Fusco, F; Paciolla, M; Chen, E; Li, X; Genesio, R; Conti, A; Jones, J; Poeta, L; Lioi, Mb; Ursini, Mv; Miano, Mg
Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-kappa B/p65 activation during in vitro oocyte maturation and early embryogenesis
2011 Paciolla, M.; Boni, R.; Fusco, F.; Pescatore, A.; Poeta, L.; Ursini, M. V.; Lioi, M. B.; Miano, M. G.
The LCR at the IKBKG locus is prone to recombine
2010 Fusco, F; D'Urso, M; Miano, Mg; Ursini, Mv
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants | 1-gen-2023 | Leonardi, Emanuela; Cristina Aspromonte, Maria; Drongitis, Denise; Bettella, Elisa; Verrillo, Lucia; Polli, Roberta; Mcentagart, Meriel; Licchetta, Laura; Dilena, Robertino; D'Arrigo, Stefano; Ciaccio, Claudia; Esposito, Silvia; Leuzzi, Vincenzo; Torella, Annalaura; Baldo, Demetrio; Lonardo, Fortunato; Bonato, Giulia; Pellegrin, Serena; Stanzial, Franco; Posmyk, Renata; Kaczorowska, Ewa; Carecchio, Miryam; Gos, Monika; Rzocaniewczas, Sylwia; Miano, MARIA GIUSEPPINA; Murgia, Alessandra | |
| Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases | 1-gen-2023 | Verrillo, Lucia; Di Palma, Rosita; de Bellis, Alberto; Drongitis, Denise; Miano, MARIA GIUSEPPINA | |
| A novel splicing SCN2A mutation in an adolescent with low functioning autism, acute dystonic movement disorder and late-onset generalized epilepsy | 1-gen-2022 | Alagia, Marianna; Fecarotta, Simona; Romano, Alfonso; Parrini, Elena; Auricchio, Gianfranca; Miano, MARIA GIUSEPPINA; Terrone, Gaetano | |
| Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy | 1-gen-2022 | Drongitis, D; Caterino, M; Verrillo, L; Santonicola, P; Costanzo, M; Poeta, L; Attianese, B; Barra, A; Terrone, G; Lioi, Mb; Paladino, S; Di Schiavi, E; Costa, V; Ruoppolo, M; Miano, Mg | |
| Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. | 1-gen-2022 | Poeta, L; Malacarne, M; Padula, A; Drongitis, D; Verrillo, L; Lioi, Mb; Chiariello, Am; Bianco, S; Nicodemi, M; Piccione, M; Salzano, E; Coviello, D; Miano, Mg | |
| The Chromatin-Oxygen Sensor Gene KDM5C Associates with Novel Hypoxia-Related Signatures in Glioblastoma Multiforme. | 1-gen-2022 | Drongitis, D; Verrillo, L; De Marinis, P; Orabona, P; Caiola, A; Turitto, G; Alfieri, A; Bruscella, S; Gentile, M; Moriello, V; Sannino, E; Di Muccio, I; Costa, V; Miano, Mg; de Bellis, A. | |
| A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells | 1-gen-2021 | Verrillo, L; Mangano, E; Drongitis, D; Merelli, I; Pischedda, F; Piccoli, G; Consolandi, C; Bordoni, R; Miano, Mg | |
| Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures | 1-gen-2021 | Poeta, L; Padula, A; Lioi, Mb; van Bokhoven, H; Miano, Mg | |
| DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms | 1-gen-2020 | Poeta, Loredana; Drongitis, Denise; Verrillo, Lucia; Miano, MARIA GIUSEPPINA | |
| Preservation of neurons in an AD 79 vitrified human brain | 1-gen-2020 | Petrone, P; Giordano, G; Vezzoli, E; Pensa, A; Castaldo, G; Graziano, V; Sirano, F; Capasso, E; Quaremba, G; Vona, A; Miano, Mg; Savino, S; Niola, M | |
| Analysis of cortical gene expression variability in a mouse model of X-linked Infantile spsms syndrome | 1-gen-2019 | Verrillo L; Tuccillo M; Drongitis D; Mangano E; Franco C; Terrone G; Canzoniero MT; Del Giudice E; Bordoni R; Poeta L; Miano MG. | |
| Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. | 1-gen-2019 | Poeta, L; Padula, A; Attianese, B; Valentino, M; Verrillo, L; Filosa, S; Shoubridge, C; Barra, A; Schwartz, Ce; Christensen, J; van Bokhoven, H; Helin, K; Lioi, Mb; Collombat, P; Gecz, J; Altucci, L; Di Schiavi, E; Miano, Mg | |
| A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays | 1-gen-2018 | Frost, S; Padula, A; Pedersen, I S; Le, V Q; Ernst, A; Nielsen, I K; Miano, M G; Petersen, M B | |
| Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model" | 1-gen-2018 | Padula, A.; Poeta, L.; Shoubridge, C.; Valentino, M.; Attianese, B.; vanBokhoven, H.; Filosa, S.; Gecz, J.; Altucci, L.; Miano, M. | |
| Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease | 1-gen-2014 | Conte MI; Pescatore A; Paciolla M; Esposito E; Miano MG; Lioi MB; McAleer MA; Giardino G; Pignata C; Irvine AD; Scheuerle AE; Royer G; HadjRabia S; Bodemer C; Bonnefont JP; Munnich A; Smahi A; Steffann J; Fusco F;Ursini MV | |
| A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. | 1-gen-2013 | Poeta, L; Fusco, F; Drongitis, D; Shoubridge, C; Manganelli, G; Filosa, S; Paciolla, M; Courtney, M; Collombat, P; Lioi, Mb; Gecz, J; Ursini, Mv; Miano, Mg | |
| Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms | 1-gen-2012 | Fusco, F; Paciolla, M; Napolitano, F; Pescatore, A; D'Addario, I; Bal, E; Lioi, Mb; Smahi, A; Miano, Mg; Ursini, Mv | |
| Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. | 1-gen-2011 | Fusco, F; Paciolla, M; Chen, E; Li, X; Genesio, R; Conti, A; Jones, J; Poeta, L; Lioi, Mb; Ursini, Mv; Miano, Mg | |
| Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-kappa B/p65 activation during in vitro oocyte maturation and early embryogenesis | 1-gen-2011 | Paciolla, M.; Boni, R.; Fusco, F.; Pescatore, A.; Poeta, L.; Ursini, M. V.; Lioi, M. B.; Miano, M. G. | |
| The LCR at the IKBKG locus is prone to recombine | 1-gen-2010 | Fusco, F; D'Urso, M; Miano, Mg; Ursini, Mv |