Annalisa Frattini


Area of interest:

My research activity began, at ITBA-CNR, with my involvement in the CNR finalized projects which had, as main objective, the isolation and characterization of genes located in the long arm (Xq24-qter) of the human X chromosome.

Then, my scientific activity, at IRGB-CNR, has been focused on the research of the causative genes of rare human diseases mainly of bone and of the immune system and on the study of the related molecular pathways in vitro and in vivo in mouse models.

Currently, my research activity takes place at the Department of Clinical Medicine (DMC) of the University of Insubria in Varese, in collaboration with the Human Genetics group. The collaboration in addition to research in the field of human genetics and stem cell biology has involved teaching activities with lessons dedicated to topics in the field of General Biology, Developmental Biology and Medical Genetics.

In collaboration with Dr. R. Valli (DMC, University of Insubria), and Dr. I. Villa (Bone Metabolism Unit, San Raffaele Scientific Institute, Milan) we are defining the molecular pathways of the bone defects in patients affected by Schwachman-Diamond syndrome (SDS, OMIM: 260400), a rare monogenic inherited multisystemic disorder principally characterized by exocrine pancreatic dysfunction, skeletal defects characterized by metaphyseal and thoracic dysplasia, early onset of low bone turnover osteoporosis, and bone marrow failure, with the predisposition toward myelodysplasia syndrome or acute myeloid leukaemia.

At the same time, we are evaluating the effect of drugs able to bypass nonsense mutations (carried by about 90% of SDS patients) in lymphoblastic cell lines and in primary cultures of osteoblasts derived from bone biopsies of SDS patients.

Most significant publications:


Marcozzi, C; Frattini, A; Borgese, M; Rossi, F; Barone, L; Solari, E; Valli, R; Gornati, R

Paracrine effect of human adipose-derived stem cells on lymphatic endothelial cells Journal Article

In: Regen Med, 15 (9), pp. 2085–2098, 2020.


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

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 Journal Article

In: Mol Cytogenet, 13 , pp. 1, 2020.



Valli, Roberto; Paoli, Elena De; Nacci, Lucia; Frattini, Annalisa; Pasquali, Francesco; Maserati, Emanuela

Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome Journal Article

In: Pediatric Blood & Cancer, 2017, ISSN: 1545-5017.

Abstract | Links | BibTeX


Frattini, Annalisa; Fabbri, Marco; Valli, Roberto; Paoli, Elena De; Montalbano, Giuseppe; Gribaldo, Laura; Pasquali, Francesco; Maserati, Emanuela

High variability of genomic instability and gene expression profiling in different HeLa clones Journal Article

In: Scientific Reports, 5 , pp. 15377, 2015, ISSN: 2045-2322.

Abstract | Links | BibTeX


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

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations Journal Article

In: Hum Mutat, 31 (1), pp. E1071–1080, 2010.



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

Ħuman osteoclast-poor osteopetrosis with hypogammaglobulinemia due to ŦNFRSF11A (RANK) mutations Journal Article

In: 83 (1), pp. 64–76, 2008.



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

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL Journal Article

In: Nat Genet, 39 (8), pp. 960–962, 2007.



Pangrazio, A; Poliani, P L; Megarbane, A; Lefranc, G; Lanino, E; Rocco, M Di; Rucci, F; Lucchini, F; Ravanini, M; Facchetti, F; Abinun, M; Vezzoni, P; Villa, A; Frattini, A

Mutations in OSŦM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement Journal Article

In: J Bone Miner Res, 21 (7), pp. 1098–1105, 2006.



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

Rescue of AŦPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero Journal Article

In: Proc Natl Acad Sci U S A, 102 (41), pp. 14629–14634, 2005.



Frattini, A; Orchard, P J; Sobacchi, C; Giliani, S; Abinun, M; Mattsson, J P; Keeling, D J; Andersson, A K; Wallbrandt, P; Zecca, L; Notarangelo, L D; Vezzoni, P; Villa, A

Đefects in ŦCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis Journal Article

In: Nat Genet, 25 (3), pp. 343–346, 2000.