Annalisa Frattini

@article{pmid33201769,

title = {Paracrine effect of human adipose-derived stem cells on lymphatic endothelial cells},

author = {C Marcozzi and A Frattini and M Borgese and F Rossi and L Barone and E Solari and R Valli and R Gornati},

year  = {2020},

date = {2020-09-01},

journal = {Regen Med},

volume = {15},

number = {9},

pages = {2085--2098},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31908654,

title = {Microarray expression studies on bone marrow of patients with Shwachman-Điamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype},

author = {A W Khan and A Minelli and A Frattini and G Montalbano and A Bogni and M Fabbri and G Porta and F Acquati and R M Pinto and E Bergami and R Mura and A Pegoraro and S Cesaro and M Cipolli and M Zecca and C Danesino and F Locatelli and E Maserati and F Pasquali and R Valli},

year  = {2020},

date = {2020-01-01},

journal = {Mol Cytogenet},

volume = {13},

pages = {1},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{valli_novel_2017,

title = {Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome},

author = {Roberto Valli and Elena {De Paoli} and Lucia Nacci and Annalisa Frattini and Francesco Pasquali and Emanuela Maserati},

doi = {10.1002/pbc.26454},

issn = {1545-5017},

year  = {2017},

date = {2017-01-01},

journal = {Pediatric Blood & Cancer},

abstract = {BACKGROUND: Two chromosome anomalies are frequent in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS): an isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q). These anomalies are associated with a lower risk of developing myelodysplasia (MDS) and/or acute myeloid leukemia. The chromosome anomalies may be due to an SDS-specific karyotype instability, reflected also by anomalies that are not clonal, but found in single cells in the BM or in peripheral blood (PB). 

PROCEDURE: Starting in 1999, we have monitored the cytogenetic picture of a cohort of 91 Italian patients with SDS by all suitable cytogenetic and molecular methods. 

RESULTS: Here, we report clonal chromosome anomalies that are different from the aforementioned, as well as changes found in single cells in BM/PB of the same patients. 

CONCLUSIONS: Some of the newly recognized clonal anomalies in BM reported here are recurrent, especially unbalanced structural anomalies of chromosome 7, a further complex rearrangement of the del(20)(q) with duplicated and deleted portions, and an unbalanced translocation t(3;6), with partial trisomy of the long arm of chromosome 3 and partial monosomy of the long arm of chromosome 6. Firm conclusions on the possible prognostic relevance of these anomalies would require further study with larger patient cohorts, but our data are sufficient to suggest that these patients necessitate more frequent cytogenetic monitoring. The results on anomalies found in single cells confirm the presence of an SDS-specific karyotype instability.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{frattini_high_2015,

title = {High variability of genomic instability and gene expression profiling in different HeLa clones},

author = {Annalisa Frattini and Marco Fabbri and Roberto Valli and Elena {De Paoli} and Giuseppe Montalbano and Laura Gribaldo and Francesco Pasquali and Emanuela Maserati},

doi = {10.1038/srep15377},

issn = {2045-2322},

year  = {2015},

date = {2015-10-01},

journal = {Scientific Reports},

volume = {5},

pages = {15377},

abstract = {The HeLa cell line is one of the most popular cell lines in biomedical research, despite its well-known chromosomal instability. We compared the genomic and transcriptomic profiles of 4 different HeLa batches and showed that the gain and loss of genomic material varies widely between batches, drastically affecting basal gene expression. Moreover, different pathways were activated in response to a hypoxic stimulus. Our study emphasizes the large genomic and transcriptomic variability among different batches, to the point that the same experiment performed with different batches can lead to distinct conclusions and irreproducible results. The HeLa cell line is thought to be a unique cell line but it is clear that substantial differences between the primary tumour and the human genome exist and that an indeterminate number of HeLa cell lines may exist, each with a unique genomic profile.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid19953639,

title = {Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations},

author = {A Pangrazio and M Pusch and E Caldana and A Frattini and E Lanino and P M Tamhankar and S Phadke and A G Lopez and P Orchard and E Mihci and M Abinun and M Wright and K Vettenranta and I Bariae and D Melis and I Tezcan and C Baumann and F Locatelli and M Zecca and E Horwitz and L S Mansour and M Van Roij and P Vezzoni and A Villa and C Sobacchi},

year  = {2010},

date = {2010-01-01},

journal = {Hum Mutat},

volume = {31},

number = {1},

pages = {E1071--1080},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid18606301,

title = {Ħuman osteoclast-poor osteopetrosis with hypogammaglobulinemia due to ŦNFRSF11A (RANK) mutations},

author = {M M Guerrini and C Sobacchi and B Cassani and M Abinun and S S Kilic and A Pangrazio and D Moratto and E Mazzolari and J Clayton-Smith and P Orchard and F P Coxon and M H Helfrich and J C Crockett and D Mellis and A Vellodi and I Tezcan and L D Notarangelo and M J Rogers and P Vezzoni and A Villa and A Frattini},

year  = {2008},

date = {2008-07-01},

volume = {83},

number = {1},

pages = {64--76},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid17632511,

title = {Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL},

author = {C Sobacchi and A Frattini and M M Guerrini and M Abinun and A Pangrazio and L Susani and R Bredius and G Mancini and A Cant and N Bishop and P Grabowski and A Del Fattore and C Messina and G Errigo and F P Coxon and D I Scott and A Teti and M J Rogers and P Vezzoni and A Villa and M H Helfrich},

year  = {2007},

date = {2007-01-01},

journal = {Nat Genet},

volume = {39},

number = {8},

pages = {960--962},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid16813530,

title = {Mutations in OSŦM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement},

author = {A Pangrazio and P L Poliani and A Megarbane and G Lefranc and E Lanino and M Di Rocco and F Rucci and F Lucchini and M Ravanini and F Facchetti and M Abinun and P Vezzoni and A Villa and A Frattini},

year  = {2006},

date = {2006-07-01},

journal = {J Bone Miner Res},

volume = {21},

number = {7},

pages = {1098--1105},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid16195375,

title = {Rescue of AŦPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero},

author = {A Frattini and H C Blair and M G Sacco and F Cerisoli and F Faggioli and E M Catò and A Pangrazio and A Musio and F Rucci and C Sobacchi and A C Sharrow and S E Kalla and M G Bruzzone and R Colombo and M C Magli and P Vezzoni and A Villa},

year  = {2005},

date = {2005-01-01},

journal = {Proc Natl Acad Sci U S A},

volume = {102},

number = {41},

pages = {14629--14634},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid10888887,

title = {Đefects in ŦCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis},

author = {A Frattini and P J Orchard and C Sobacchi and S Giliani and M Abinun and J P Mattsson and D J Keeling and A K Andersson and P Wallbrandt and L Zecca and L D Notarangelo and P Vezzoni and A Villa},

year  = {2000},

date = {2000-07-01},

journal = {Nat Genet},

volume = {25},

number = {3},

pages = {343--346},

keywords = {},

pubstate = {published},

tppubtype = {article}

}