基本信息
views: 323
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
Bio
He started his research activity in the field of Genetic and Biochemistry in 1980. His primary focus was the mapping, identification and characterization of human-disease genes (Laron dwarfism, cystic fibrosis, DiGeorge syndrome, Mandibuloacral dysplasia, Friedrich ataxia vitamin-Edeficiency, spinal muscular atrophy, hypoplastic glomerulocystic kidney disease, myotonic dystrophy, psoriasis, galactosemia, hereditary nonspherocytic haemolytic anemia, atherosclerosis and myocardial infarction, vacuolar neuromyopathy, patella aplasia hypoplasia). The Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study (J. Med. Genet. : 34 Issue: 10 Pages: 798-804, 1997) provided the scientific evidence showing that patients with 22q11 deletion provide a large spectrum of symptoms and phenotypes. This landmark study (cited more 398 times) provided the first of the complexity of the phenotype associated to this syndrome and suggest the involvement of different genes mapping in the 22q11 region.
In the same year, Giuseppe Novelli started in searching for genes mapping in the region and isolate and characterized a novel one, UFD1L, a developmentally expressed ubiquitination gene, which is deleted in 22q11 syndrome (Hum Mol Genet., 6, 259-265, 1997). After the isolation, Novelli studied the structure, the expression, the conservation during evolution and its role in the syndrome. For these studies (in total 24 peer-reviewed articles), Novelli wrote two editorials (Trends Genet. 1999 Jul;15(7):251-4 and Mol. Med.
Today, 2000 Jan;6(1):10-1). The results obtained during this period, have allowed his participation to a EU consortium (chaired by P. Scambler) and facilitated collaboration with basic researchers and geneticists, trying to find the pathophysiological pathways and molecular mechanisms underlying some of the observations that Novelli had made in his first studies.
Research Interests
Papers共 1059 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
International Immunopharmacology (2024): 112239-112239
EPIGENOMICSno. 2 (2024): 85-91
Ludovico Graziani,Chiara Minotti, Miriam Lucia Carriero,Mario Bengala,Silvia Lai,Alessandra Terracciano,Antonio Novelli,Giuseppe Novelli
GENESno. 5 (2024): 597
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 203-203
Cited0Views0Bibtex
0
0
ULTRASOUND IN OBSTETRICS & GYNECOLOGYno. 2 (2024): 198-205
FRONTIERS IN GENETICS (2024): 1315291-1315291
Andrea Latini,Paola Borgiani,Giada De Benedittis,Cinzia Ciccacci,Lucia Novelli,Gerardo Pepe,Manuela Helmer-Citterich, Isabella Baldini,Carlo Perricone,Fulvia Ceccarelli,Fabrizio Conti, Generoso Ianniciello,
GENE (2024): 148279-148279
MOLECULAR SYNDROMOLOGYpp.1-8, (2024)
Load More
Author Statistics
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn