Zobrazeno 1 - 10 of 27 pro vyhledávání: '"Francesco Cecere"'
1
Akademický článek
A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency
Autor: Vincenzo Lullo, Francesco Cecere, Saveria Batti, Sara Allegretti, Barbara Morone, Salvatore Fioriniello, Laura Pisapia, Rita Genesio, Floriana Della Ragione, Giuliana Giardino, Claudio Pignata, Andrea Riccio, Maria R. Matarazzo, Maria Strazzullo
Publikováno v: Frontiers in Immunology, Vol 15 (2024)
Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome is a rare genetic disorder characterized by variable immunodeficiency. More than half of the affected individuals show mild to severe intellectual disability at early onset
Externí odkaz: https://doaj.org/article/06bcb3c13e8947dca29250e08ac5928d
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2
Akademický článek
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Autor: Laura Pignata, Francesco Cecere, Fabio Acquaviva, Emilia D’Angelo, Daniela Cioffi, Valeria Pellino, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Angela Sparago, Daniele De Brasi, Flavia Cerrato, Andrea Riccio
Publikováno v: Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of disea
Externí odkaz: https://doaj.org/article/e9967b43ef824f1aad5e0516a7eb96e9
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3
Akademický článek
The mismatch-repair proteins MSH2 and MSH6 interact with the imprinting control regions through the ZFP57-KAP1 complex
Autor: Basilia Acurzio, Francesco Cecere, Carlo Giaccari, Ankit Verma, Rosita Russo, Mariangela Valletta, Bruno Hay Mele, Claudia Angelini, Angela Chambery, Andrea Riccio
Publikováno v: Epigenetics & Chromatin, Vol 15, Iss 1, Pp 1-13 (2022)
Abstract Background Imprinting Control Regions (ICRs) are CpG-rich sequences acquiring differential methylation in the female and male germline and maintaining it in a parental origin-specific manner in somatic cells. Despite their expected high muta
Externí odkaz: https://doaj.org/article/2085eb33bc934ff1a983e8a3a6b76346
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4
Akademický článek
ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming
Autor: Ankit Verma, Varsha Poondi Krishnan, Francesco Cecere, Emilia D’Angelo, Vincenzo Lullo, Maria Strazzullo, Sara Selig, Claudia Angelini, Maria R. Matarazzo, Andrea Riccio
Publikováno v: Biomolecules, Vol 13, Iss 12, p 1717 (2023)
Parent-of-origin-dependent gene expression of a few hundred human genes is achieved by differential DNA methylation of both parental alleles. This imprinting is required for normal development, and defects in this process lead to human disease. Induc
Externí odkaz: https://doaj.org/article/6febba4f70fb41b5aed9810d8089762f
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5
Akademický článek
Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs
Autor: Basilia Acurzio, Ankit Verma, Alessia Polito, Carlo Giaccari, Francesco Cecere, Salvatore Fioriniello, Floriana Della Ragione, Annalisa Fico, Flavia Cerrato, Claudia Angelini, Robert Feil, Andrea Riccio
Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
Abstract ZFP57 is required to maintain the germline-marked differential methylation at imprinting control regions (ICRs) in mouse embryonic stem cells (ESCs). Although DNA methylation has a key role in genomic imprinting, several imprinted genes are
Externí odkaz: https://doaj.org/article/6c8c1651a3bf4c37b51d4600ee824ba6
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6
Akademický článek
Micromammals in the diet of the Long-eared Owl (Asio otus) at the W.W.F.'s Oasi San Giuliano (Matera, South Italy)
Autor: Francesco Cecere, Gianluca Vicini
Publikováno v: Hystrix, the Italian Journal of Mammalogy, Vol 11, Iss 2 (2000)
Abstract The presence of small mammals in the winter diet of a dormitory made up of 5 specimens living at the WWF's Oasi San Giuliano (province of Matera) is analysed in the following study. The data confirm the presence of small mammals, Microtinae
Externí odkaz: https://doaj.org/article/1d32bc99393f4eccb3ee99bbe0d397b9
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8
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum
Autor: Francesco Passaretti, Laura Pignata, Giuseppina Vitiello, Viola Alesi, Gemma D’Elia, Francesco Cecere, Fabio Acquaviva, Daniele De Brasi, Antonio Novelli, Andrea Riccio, Achille Iolascon, Flavia Cerrato
Publikováno v: Genes; Volume 13; Issue 10; Pages: 1875
Silver–Russell syndrome is an imprinting disorder characterised by pre- and post-natal growth retardation and several heterogeneous molecular defects affecting different human genomic loci. In the majority of cases, the molecular defect is the loss
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f74814c0492d04074695c6d005cb7fcf
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9
Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs
Autor: Claudia Angelini, Ankit Verma, Basilia Acurzio, Carlo Giaccari, Floriana Della Ragione, Francesco Cecere, Andrea Riccio, Robert Feil, Flavia Cerrato, Annalisa Fico, Alessia Polito, Salvatore Fioriniello
Publikováno v: Scientific reports (Nature Publishing Group) 11 (2021). doi:10.1038/s41598-021-93297-3
info:cnr-pdr/source/autori:Acurzio B.; Verma A.; Polito A.; Giaccari C.; Cecere F.; Fioriniello S.; Della Ragione F.; Fico A.; Cerrato F.; Angelini C.; Feil R.; Riccio A./titolo:Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs/doi:10.1038%2Fs41598-021-93297-3/rivista:Scientific reports (Nature Publishing Group)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:11
Scientific Reports
Scientific Reports, Nature Publishing Group, 2021, 11 (1), ⟨10.1038/s41598-021-93297-3⟩
Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
ZFP57 is required to maintain the germline-marked differential methylation at imprinting control regions (ICRs) in mouse embryonic stem cells (ESCs). Although DNA methylation has a key role in genomic imprinting, several imprinted genes are controlle
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04bb9c4281c514697366597f30862f67
https://doi.org/10.1038/s41598-021-93297-3
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10
The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model
Autor: Francesco Cecere, Gilda Cobellis, Francesco Manfrevola, Monica Mattia, Flavia Cerrato, Laura Pignata, Andrea Riccio, Marisa S. Bartolomei, Andrea Freschi, Angela Sparago, Rosita Del Prete
Publikováno v: Human Molecular Genetics
The reciprocal parent of origin-specific expression of H19 and IGF2 is controlled by the H19/IGF2:IG-DMR (IC1), whose maternal allele is unmethylated and acts as a CTCF-dependent insulator. In humans, internal IC1 deletions are associated with Beckwi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bb080039a5832a20776c152d4a11b27
http://hdl.handle.net/11591/460632
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