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» Authors » Federica Gibellini

Federica Gibellini

Explore the profile of Federica Gibellini including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 25
Citations 2155
Followers 0
Related Specialties
Hematology
Genetics
Oncology
Top 10 Co-Authors
Adrian Wiestner
William N Hunter
Terry K Smith
Ndegwa Njuguna
Kyle Retterer
Wyndham H Wilson
Elinor Lee
Valeria Visconte
Sherri Bale
Karen McLuskey
Published In
Blood
Genet Med
Leuk Lymphoma
Mol Microbiol
Oncotarget
Affiliations
Soon will be listed here.
Recent Articles
1.
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Cao Y, Tokita M, Chen E, Ghosh R, Chen T, Feng Y, et al.
Genome Med . 2019 Jul; 11(1):48. PMID: 31349857
Background: Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently detect variants at reduced allelic fractions have only recently...
2.
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
Susswein L, Marshall M, Nusbaum R, Postula K, Weissman S, Yackowski L, et al.
Genet Med . 2015 Dec; 18(8):823-32. PMID: 26681312
Purpose: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a clinical laboratory testing both well-established, high-risk...
3.
Clinical application of whole-exome sequencing across clinical indications
Retterer K, Juusola J, Cho M, Vitazka P, Millan F, Gibellini F, et al.
Genet Med . 2015 Dec; 18(7):696-704. PMID: 26633542
Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory. Methods: WES was performed for many different clinical indications and included...
4.
Reversal of the glycolytic phenotype of primary effusion lymphoma cells by combined targeting of cellular metabolism and PI3K/Akt/ mTOR signaling
Mediani L, Gibellini F, Bertacchini J, Frasson C, Bosco R, Accordi B, et al.
Oncotarget . 2015 Nov; 7(5):5521-37. PMID: 26575168
PEL is a B-cell non-Hodgkin lymphoma, occurring predominantly as a lymphomatous effusion in body cavities, characterized by aggressive clinical course, with no standard therapy. Based on previous reports that PEL...
5.
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing
Zarate Y, Perry H, Ben-Omran T, Sellars E, Stein Q, AlMureikhi M, et al.
Am J Med Genet A . 2015 Apr; 167A(5):1026-32. PMID: 25885067
The SATB2-associated syndrome (SAS) was recently proposed as a clinically recognizable syndrome that results from deleterious alterations of the SATB2 gene in humans. Although interstitial deletions at 2q33 encompassing SATB2,...
6.
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort
Retterer K, Scuffins J, Schmidt D, Lewis R, Pineda-Alvarez D, Stafford A, et al.
Genet Med . 2014 Oct; 17(8):623-9. PMID: 25356966
Purpose: Detection of copy-number variation (CNV) is important for investigating many genetic disorders. Testing a large clinical cohort by array comparative genomic hybridization provides a deep perspective on the spectrum...
7.
The protein kinase Akt/PKB regulates both prelamin A degradation and Lmna gene expression
Bertacchini J, Beretti F, Cenni V, Guida M, Gibellini F, Mediani L, et al.
FASEB J . 2013 Feb; 27(6):2145-55. PMID: 23430973
The serine/threonine kinase Akt/PKB is a major signaling hub integrating metabolic, survival, growth, and cell cycle regulatory signals. The definition of the phospho-motif cipher driving phosphorylation by Akt led to...
8.
Structure-based selectivity optimization of piperidine-pteridine derivatives as potent Leishmania pteridine reductase inhibitors
Corona P, Gibellini F, Cavalli A, Saxena P, Carta A, Loriga M, et al.
J Med Chem . 2012 Sep; 55(19):8318-29. PMID: 22946585
The upregulation of pteridine reductase (PTR1) is a major contributor to antifolate drug resistance in Leishmania spp., as it provides a salvage pathway that bypasses dihydrofolate reductase (DHFR) inhibition. The...
9.
ON 01910.Na is selectively cytotoxic for chronic lymphocytic leukemia cells through a dual mechanism of action involving PI3K/AKT inhibition and induction of oxidative stress
Chapman C, Sun X, Roschewski M, Aue G, Farooqui M, Stennett L, et al.
Clin Cancer Res . 2012 Feb; 18(7):1979-91. PMID: 22351695
Purpose: Chronic lymphocytic leukemia (CLL), a malignancy of mature B cells, is incurable with chemotherapy. Signals from the microenvironment support leukemic cell survival and proliferation and may confer chemotherapy resistance....
10.
Activation of CD44, a receptor for extracellular matrix components, protects chronic lymphocytic leukemia cells from spontaneous and drug induced apoptosis through MCL-1
Herishanu Y, Gibellini F, Njuguna N, Hazan-Halevy I, Farooqui M, Bern S, et al.
Leuk Lymphoma . 2011 Jun; 52(9):1758-69. PMID: 21649540
Survival of chronic lymphocytic leukemia (CLL) cells in vivo is supported by the tissue microenvironment, which includes components of the extracellular matrix. Interactions between tumor cells and the extracellular matrix...