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Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts

Autor: Neri T, Muggeo S, Paulis M, Caldana ME, Crisafulli L, Strina D, Focarelli ML, Faggioli F, Recordati C, Scaramuzza S, Scanziani E, Mantero S, Buracchi C, Sobacchi C, Vezzoni P, Villa A, Ficara F., LOMBARDO, ANGELO LEONE, NALDINI , LUIGI

Publikováno v: Stem Cell Reports, Vol 5, Iss 4, Pp 558-568 (2015)
Stem Cell Reports

Summary Autosomal recessive osteopetrosis is a human bone disease mainly caused by TCIRG1 gene mutations that prevent osteoclasts resorbing activity, recapitulated by the oc/oc mouse model. Bone marrow transplantation is the only available treatment,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f904ab7c95f5f5f047f4afbde2bed3e
http://www.sciencedirect.com/science/article/pii/S2213671115002398

Homeostatic expansion of autoreactive immunoglobulin secreting cells in the Rag2 mouse model of Omenn syndrome

Autor: Cassani, B, Poliani, Pg, Marrella, V, Schena, F, Sauer, Av, Ravanini, M, Strina, D, Busse, Ce, Regenass, S, Wardemann, H, Martini, Alberto, Facchetti, F, van der Burg, M, Rolink, Ag, Vezzoni, P, Grassi, F, Traggiai, E, Villa, A.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3710::14996d014e171d39815d1f6dd34a55fb
http://hdl.handle.net/11567/276780

CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY

Autor: MACCHI, P, VILLA, A, STRINA, D, SACCO, MG, MORALI, F, BRUGNONI, D, GILIANI, S, MANTUANO, E, FASTH, A, ANDERSSON, B, ZEGERS, BJM, CAVAGNI, G, REZNICK, I, LEVY, J, ZANBAR, I, PORAT, Y, AIRO, P, PLEBANI, A, VEZZONI, P, NOTARANGELO, LD

Publikováno v: American journal of human genetics 56 (1995): 898–906.
info:cnr-pdr/source/autori:MACCHI, P; VILLA, A; STRINA, D; SACCO, MG; MORALI, F; BRUGNONI, D; GILIANI, S; MANTUANO, E; FASTH, A; ANDERSSON, B; ZEGERS, BJM; CAVAGNI, G; REZNICK, I; LEVY, J; ZANBAR, I; PORAT, Y; AIRO, P; PLEBANI, A; VEZZONI, P; NOTARANGELO, LD/titolo:CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY/doi:/rivista:American journal of human genetics/anno:1995/pagina_da:898/pagina_a:906/intervallo_pagine:898–906/volume:56

X-linked immunodeficiency with hyper-IgM (HIGMX-1) is a rare disorder caused by defective expression of the CD40 ligand (CD40L) by activated T lymphocytes, resulting in inefficient T-B cell cooperation and failure of B cells to undergo immunoglobulin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::c5edec8c13b21299b4ff8e935d79e331
https://publications.cnr.it/doc/281403

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hiper IgM syndrome of various ancestry

Autor: Macchi, P., Villa, A., Strina, D., Sacco, M. G., Morali, F., Brugnoni, D., Mantuano, E., Fasth, A., Andersson, B., Zegers, B. J. M., Cavagni, G., Reznick, I., Levy, J., Zan Bar, I., Porat, Y., Airò, P., Plebani, Alessandro, Vezzoni, P., Notarangelo, Luigi Daniele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3662::21ab999b5ac57d82bd499b2c6a986702
http://hdl.handle.net/11379/456937