Manuela Lanzafame
University Hospital of Basel
25 Papers
30 Citations
Manuela Lanzafame is an academic researcher from University Hospital of Basel. The author has contributed to research in topics: Cockayne syndrome & Medicine. The author has an hindex of 11, co-authored 23 publications. Previous affiliations of Manuela Lanzafame include University of Catania.
Chat about Author
Papers
Trichothiodystrophy: from basic mechanisms to clinical implications
TL;DR: Investigations on TTD are elucidating not only the pathogenesis of the disease, which appears to be mainly related to transcriptional impairment, but also the modalities of NER and transcription in human cells and how TFIIH operates in these two fundamental cellular processes.
119
The Role of Long Non-Coding RNAs in Hepatocarcinogenesis.
Manuela Lanzafame,Gaia Bianco,Luigi Terracciano,Charlotte K.Y. Ng,Charlotte K.Y. Ng,Salvatore Piscuoglio +5 more
TL;DR: A better understanding of the molecular mechanisms and the complex network of interactions in which lncRNAs are involved could reveal novel diagnostic and prognostic biomarkers that may provide novel therapeutic opportunities for HCC patients.
85
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome
Nadège Calmels,Elena Botta,Nan Jia,Heather Fawcett,Tiziana Nardo,Yuka Nakazawa,Manuela Lanzafame,Shinichi Moriwaki,Katsuo Sugita,Masaya Kubota,Cathy Obringer,Marie-Aude Spitz,Miria Stefanini,Vincent Laugel,Donata Orioli,Tomoo Ogi,Alan R. Lehmann +16 more
TL;DR: This study improves the definition of the puzzling genotype-phenotype relationships in patients with CS by identifying >70 novel homozygous or compound heterozygous genetic variants in 124 patients with different disease severity and ethnic backgrounds.
70
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
Christiane Kuschal,Elena Botta,Donata Orioli,John J. DiGiovanna,Sara Seneca,Kathelijn Keymolen,Deborah Tamura,E. Heller,Sikandar G. Khan,Giuseppina Caligiuri,Manuela Lanzafame,Tiziana Nardo,Roberta Ricotti,Fiorenzo A. Peverali,Robert M. Stephens,Yongmei Zhao,Alan R. Lehmann,Laura Baranello,David Levens,Kenneth H. Kraemer,Miria Stefanini +20 more
TL;DR: Two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 are reported, supporting the theory that TTD is caused by transcriptional impairments that are distinct from the NER disorder XP.
55
High expression of HOXA13 correlates with poorly differentiated hepatocellular carcinomas and modulates sorafenib response in in vitro models.
Luca Quagliata,Cristina Quintavalle,Manuela Lanzafame,Matthias S. Matter,Chiara Novello,Luca Di Tommaso,Tiziana Pressiani,Lorenza Rimassa,Luigi Tornillo,Massimo Roncalli,Clemente Cillo,Pierlorenzo Pallante,Salvatore Piscuoglio,Charlotte K.Y. Ng,Luigi Terracciano +14 more
TL;DR: Stable overexpression of HOXA13 in liver cancer cell lines resulted in increased colony formation on soft agar and migration potential as well as reduced sensitivity to sorafenib in vitro.
54