Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Antonella, Marucci"'
Autor:
Antonella Marucci, Tommaso Biagini, Rosa Di Paola, Claudia Menzaghi, Grazia Fini, Stefano Castellana, Giuliana Marcella Cardinale, Tommaso Mazza, Vincenzo Trischitta
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Homozygous inactivating GCK mutations have been repeatedly reported to cause severe hyperglycemia, presenting as permanent neonatal diabetes mellitus (PNDM). Conversely, only two cases of GCK homozygous mutations causing mild hype
Externí odkaz:
https://doaj.org/article/9a88f6f4d74d4048b374c381de7167b4
Autor:
Antonella Marucci, Rosa Di Paola, Irene Rutigliano, Grazia Fini, Serena Pezzilli, Claudia Menzaghi, Vincenzo Trischitta
Publikováno v:
Acta diabetologica. 60(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a9376a8b34dca909a817cc0bdeeb62
https://pubmed.ncbi.nlm.nih.gov/36227502
https://pubmed.ncbi.nlm.nih.gov/36227502
Publikováno v:
Acta diabetologica. 59(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fab995bafa0247c14f092dd9a39cfbb
https://pubmed.ncbi.nlm.nih.gov/35729356
https://pubmed.ncbi.nlm.nih.gov/35729356
Autor:
Antonella Marucci, Irene Rutigliano, Grazia Fini, Serena Pezzilli, Claudia Menzaghi, Rosa Di Paola, Vincenzo Trischitta
Publikováno v:
Genes
Genes, Vol 13, Iss 117, p 117 (2022)
Genes, Vol 13, Iss 117, p 117 (2022)
Monogenic diabetes is a genetic disorder caused by one or more variations in a single gene. It encompasses a broad spectrum of heterogeneous conditions, including neonatal diabetes, maturity onset diabetes of the young (MODY) and syndromic diabetes,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa76c64c873bc6c22074163e7466f387
http://hdl.handle.net/11573/1604737
http://hdl.handle.net/11573/1604737
Autor:
Rosa Di Paola, Antonella Marucci, Davide Mangiacotti, Alessandra Antonucci, Andrea Fontana, Xuan Wang, Lu Qi, Claudia Menzaghi, Vincenzo Trischitta
Publikováno v:
Advanced Biology. :2200319
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::099d1e6d22ef53c0e3e613c64e33c738
https://doi.org/10.1002/adbi.202200319
https://doi.org/10.1002/adbi.202200319
Autor:
Antonella Marucci, Rosa Di Paola, Irene Rutigliano, Grazia Fini, Serena Pezzilli, Claudia Menzaghi, Vincenzo Trischitta
Publikováno v:
Acta Diabetologica. 60:459-459
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d38ada11188a347f0ce2f1f657d31584
https://doi.org/10.1007/s00592-023-02035-w
https://doi.org/10.1007/s00592-023-02035-w
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 23, Iss 929, p 929 (2022)
International Journal of Molecular Sciences, Vol 23, Iss 929, p 929 (2022)
O-linked glycosylation, the greatest form of post-translational modifications, plays a key role in regulating the majority of physiological processes. It is, therefore, not surprising that abnormal O-linked glycosylation has been related to several h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ab14fa745bec47d0dd77e0e5d35c2d
https://pubmed.ncbi.nlm.nih.gov/35055114
https://pubmed.ncbi.nlm.nih.gov/35055114
Autor:
Ornella Ludovico, Luana Mercuri, Amélie Bonnefond, Federica Alberico, Zuroida Abubakar, Tommaso Mazza, Timothy Hastings, Prapaporn Jungtrakoon Thamtarana, Rosa Di Paola, Serena Pezzilli, Patinut Buranasupkajorn, Simone Martinelli, Elisabetta Flex, Philippe Froguel, Massimo Carella, Tommaso Biagini, Julián Cerón, Piero Marchetti, Vincenzo Trischitta, Montserrat Porta-de-la-Riva, Alessandro Doria, Antonella Marucci, Christine Mendonca, Lorella Marselli, Luca Pannone, Sabrina Prudente
Publikováno v:
J Clin Endocrinol Metab
Context Genes causing familial forms of diabetes mellitus are only partially known. Objective We set out to identify the genetic cause of hyperglycemia in multigenerational families with an apparent autosomal dominant form of adult-onset diabetes not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea856eb1031eb7c872a76fac5794b02e
https://pubmed.ncbi.nlm.nih.gov/34718610
https://pubmed.ncbi.nlm.nih.gov/34718610
Autor:
Alessandra Antonucci, Antonella Marucci, Maria Giovanna Scarale, Rosa Di Paola, Concetta De Bonis, Vincenzo Trischitta, Davide Mangiacotti
Publikováno v:
International Journal of Obesity. 43:2448-2457
Background/objectives: A better understanding of adipose tissue biology is crucial to tackle insulin resistance and eventually coronary heart disease and diabetes, leading causes of morbidity and mortality worldwide. GALNT2, a GalNAc-transferase, pos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::679f59b0791424b658365bea225ebf17
https://doi.org/10.1038/s41366-019-0367-3
https://doi.org/10.1038/s41366-019-0367-3