Zobrazeno 1 - 10
of 79
pro vyhledávání: '"R, Matarazzo"'
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
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
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Externí odkaz:
https://doaj.org/article/14d09bb3245d44d78ec71946e957b216
Autor:
Varsha Poondi Krishnan, Barbara Morone, Shir Toubiana, Monika Krzak, Salvatore Fioriniello, Floriana Della Ragione, Maria Strazzullo, Claudia Angelini, Sara Selig, Maria R. Matarazzo
Publikováno v:
Genome Research. 33:169-183
Bi-allelic hypomorphic mutations inDNMT3Bdisrupt DNA methyltransferase activity and lead to immunodeficiency, centromeric instability, facial anomalies syndrome, type 1 (ICF1). Although several ICF1 phenotypes have been linked to abnormally hypomethy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24b5f2a775e178a279dac73095873117
https://doi.org/10.1101/gr.276986.122
https://doi.org/10.1101/gr.276986.122
Autor:
Shir Toubiana, Miriam Gagliardi, Mariarosaria Papa, Roberta Manco, Maty Tzukerman, Maria R Matarazzo, Sara Selig
Publikováno v:
eLife, Vol 8 (2019)
DNA methyltransferase 3B (DNMT3B) is the major DNMT that methylates mammalian genomes during early development. Mutations in human DNMT3B disrupt genome-wide DNA methylation patterns and result in ICF syndrome type 1 (ICF1). To study whether normal D
Externí odkaz:
https://doaj.org/article/f01eb2a545ed43209924dc93efd966ed
Autor:
Gabriella Minchiotti, Eduardo J. Patriarca, Giorgio Scita, Dario De Cesare, Maria R. Matarazzo, Laura Casalino, Francesca Varrone, Agnese Migliaccio, Miriam Gagliardi, Luca G. Wanderlingh, Andrea Palamidessi, Federica Cermola, Cristina D'Aniello
Supplementary data include Figure S1(Structural determinants of ESC inhibitors), Figure S2 (Validation and functional characterization of esMTi), Figure S3 (Generation and characterization of P4H deficient ESCs), Figure S4 (Budesonide activity on A54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f0fa1a7287ce2e8d63bb834d252f759
https://doi.org/10.1158/0008-5472.22421478.v1
https://doi.org/10.1158/0008-5472.22421478.v1
Autor:
Gabriella Minchiotti, Eduardo J. Patriarca, Giorgio Scita, Dario De Cesare, Maria R. Matarazzo, Laura Casalino, Francesca Varrone, Agnese Migliaccio, Miriam Gagliardi, Luca G. Wanderlingh, Andrea Palamidessi, Federica Cermola, Cristina D'Aniello
Collagen prolyl hydroxylation (CPH), which is catalyzed by prolyl 4-hydroxylase (P4H), is the most prevalent posttranslational modification in humans and requires vitamin C (VitC). Here, we demonstrate that CPH acts as an epigenetic modulator of cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29bb7ca65bd0c205e30591d523fb258a
https://doi.org/10.1158/0008-5472.c.6510942
https://doi.org/10.1158/0008-5472.c.6510942
Publikováno v:
Epigenomes, Vol 4, Iss 4, p 26 (2020)
The epigenome refers to the entirety of DNA methylations, histone modifications, nucleosome occupancy, and coding and non-coding RNAs (and their modifications) in different cell types [...]
Externí odkaz:
https://doaj.org/article/4ca4ff92edaf4cdbb40fcf2685122112
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 6 (2018)
DNA methylation plays important roles in gene expression regulation and chromatin structure. Its proper establishment and maintenance are essential for mammalian development and cellular differentiation. DNMT3B is the major de novo DNA methyltransfer
Externí odkaz:
https://doaj.org/article/18ef7be1e097423d886506ef15aea054
Autor:
Varsha Poondi Krishnan, Barbara Morone, Shir Toubiana, Monika Krzak, Maria Strazzullo, Claudia Angelini, Sara Selig, Maria R. Matarazzo
BackgroundBi-allelic hypomorphic mutations in DNMT3B disrupt DNA methyltransferase activity and lead to Immunodeficiency, Centromeric instability, Facial anomalies syndrome, type 1 (ICF1). While several ICF1 phenotypes have been linked to abnormally
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ac89b1b46d190aef182d942c0089da8
https://doi.org/10.1101/2022.05.07.491011
https://doi.org/10.1101/2022.05.07.491011