http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleInterno/MATRICOLA22428
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- Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. (Articolo in rivista) (Prodotto della ricerca)
- A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells (Articolo in rivista) (Prodotto della ricerca)
- Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteopetrosis mimicking juvenile myelomonocytic leukemia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: A single-center experience (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- 2. Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Preclinical Safety and Efficacy of Human CD34(+) Cells Transduced With Lentiviral Vector for the Treatment of Wiskott-Aldrich Syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Lentiviral gene transfer of TCIRG1 into peripheral blood CD34+ cells restores osteoclast function in infantile malignant osteopetrosis. (Articolo in rivista) (Prodotto della ricerca)
- Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells. (Articolo in rivista) (Prodotto della ricerca)
- Correction of Murine Rag2 Severe Combined Immunodeficiency by Lentiviral Gene Therapy Using a Codon-optimized RAG2 Therapeutic Transgene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Omenn's syndrome occurring in patients without mutations in recombination activating genes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Rescue of ATPa3-deficient Murine Malignant Osteopetrosis by Hematopoietic Stem Cell Transplantation In Utero. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Damaging-agent sensitivity of Artemis-deficient cell lines. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. (Articolo in rivista) (Prodotto della ricerca)
- Genetically determined lymphopenia and autoimmune manifestations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Of Omenn and mice. Trends Immunol. 29:133-140, 2008. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A new familial sclerosing bone dysplasia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: Analysis of function and distribution in lymphoid organs. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts. (Articolo in rivista) (Prodotto della ricerca)
- Mutations of JAK3 gene in patients with autosomal severe combined immunodeficiency (SCID). (Articolo in rivista) (Prodotto della ricerca)
- RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells. (Articolo in rivista) (Prodotto della ricerca)
- Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Vacuolar H+-ATPase d2 Subunit: Molecular Characterization, Developmental Regulation, and Localization to Specialized Proton Pumps in Kidney and Bone. (Articolo in rivista) (Prodotto della ricerca)
- Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts. (Articolo in rivista) (Prodotto della ricerca)
- Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. (Articolo in rivista) (Prodotto della ricerca)
- In Vitro Differentiation of CD14 Cells From Osteopetrotic Subjects: Contrasting Phenotypes With TCIRG1, CLCN7, and Attachment Defects. (Articolo in rivista) (Prodotto della ricerca)
- Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Wiskott-Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity (Articolo in rivista) (Prodotto della ricerca)
- As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene (Articolo in rivista) (Prodotto della ricerca)
- Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome (Articolo in rivista) (Prodotto della ricerca)
- Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans (Articolo in rivista) (Prodotto della ricerca)
- Development of central nervous system autoimmunity is impaired in the absence of wiskott-aldrich syndrome protein (Articolo in rivista) (Prodotto della ricerca)
- Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta (OI), A New Target for OI Pharmacological Therapy. Stem Cells 30:1465-1476, 2012 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. (Articolo in rivista) (Prodotto della ricerca)
- The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL Deficiency. (Articolo in rivista) (Prodotto della ricerca)
- Osteopetrosis: genetics, treatment and new insights into osteoclast function. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (Articolo in rivista) (Prodotto della ricerca)
- Rag defects and thymic stroma: Lessons from animal models (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteopetroses and immunodeficiencies in humans. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Defect of regulatory T cells in patients with Omenn syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Omenn syndrome: Inflammation in leaky severe combined immunodeficiency. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY (Articolo in rivista) (Prodotto della ricerca)
- Severe combined immunodeficiency in Greek children over a 20-year period: rarity of ?c-chain deficiency (X-linked) type. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Partial V(D)J recombination activity leads to Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration. (Articolo in rivista) (Prodotto della ricerca)
- Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene therapy for primary immunodeficiencies: Part 2 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Anti-CD3e mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications (Articolo in rivista) (Prodotto della ricerca)
- Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. (Articolo in rivista) (Prodotto della ricerca)
- Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteopetrosis rescue upon RANKL administration to Rankl -/- mice: A new therapy for human RANKL-dependent ARO (Articolo in rivista) (Prodotto della ricerca)
- SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- AIRE deficiency in thymus of 2 patients with Omenn syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Diagnosi molecolare di malattie genetiche (Risultati di valorizzazione applicativa) (Prodotto della ricerca)
- Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. (Articolo in rivista) (Prodotto della ricerca)
- Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. (Articolo in rivista) (Prodotto della ricerca)
- Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W. (Articolo in rivista) (Prodotto della ricerca)
- Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome. (Articolo in rivista) (Prodotto della ricerca)
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- Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- AIRE deficiency in thymus of 2 patients with Omenn syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells (Articolo in rivista) (Prodotto della ricerca)
- A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. (Articolo in rivista) (Prodotto della ricerca)
- Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts. (Articolo in rivista) (Prodotto della ricerca)
- Vacuolar H+-ATPase d2 Subunit: Molecular Characterization, Developmental Regulation, and Localization to Specialized Proton Pumps in Kidney and Bone. (Articolo in rivista) (Prodotto della ricerca)
- Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. (Articolo in rivista) (Prodotto della ricerca)
- In Vitro Differentiation of CD14 Cells From Osteopetrotic Subjects: Contrasting Phenotypes With TCIRG1, CLCN7, and Attachment Defects. (Articolo in rivista) (Prodotto della ricerca)
- Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (Articolo in rivista) (Prodotto della ricerca)
- GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. (Articolo in rivista) (Prodotto della ricerca)
- The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL Deficiency. (Articolo in rivista) (Prodotto della ricerca)
- Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Omenn syndrome: Inflammation in leaky severe combined immunodeficiency. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Defect of regulatory T cells in patients with Omenn syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Damaging-agent sensitivity of Artemis-deficient cell lines. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Omenn's syndrome occurring in patients without mutations in recombination activating genes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Rescue of ATPa3-deficient Murine Malignant Osteopetrosis by Hematopoietic Stem Cell Transplantation In Utero. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Of Omenn and mice. Trends Immunol. 29:133-140, 2008. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetically determined lymphopenia and autoimmune manifestations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: Analysis of function and distribution in lymphoid organs. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A new familial sclerosing bone dysplasia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells. (Articolo in rivista) (Prodotto della ricerca)
- Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Diagnosi molecolare di malattie genetiche (Risultati di valorizzazione applicativa) (Prodotto della ricerca)
- Osteopetroses and immunodeficiencies in humans. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene therapy for primary immunodeficiencies: Part 2 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteopetrosis rescue upon RANKL administration to Rankl -/- mice: A new therapy for human RANKL-dependent ARO (Articolo in rivista) (Prodotto della ricerca)
- Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. (Articolo in rivista) (Prodotto della ricerca)
- Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W. (Articolo in rivista) (Prodotto della ricerca)
- Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. (Articolo in rivista) (Prodotto della ricerca)
- Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. (Articolo in rivista) (Prodotto della ricerca)
- Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta (OI), A New Target for OI Pharmacological Therapy. Stem Cells 30:1465-1476, 2012 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Severe combined immunodeficiency in Greek children over a 20-year period: rarity of ?c-chain deficiency (X-linked) type. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Anti-CD3e mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications (Articolo in rivista) (Prodotto della ricerca)
- RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Correction of Murine Rag2 Severe Combined Immunodeficiency by Lentiviral Gene Therapy Using a Codon-optimized RAG2 Therapeutic Transgene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. (Articolo in rivista) (Prodotto della ricerca)
- RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutations of JAK3 gene in patients with autosomal severe combined immunodeficiency (SCID). (Articolo in rivista) (Prodotto della ricerca)
- Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts. (Articolo in rivista) (Prodotto della ricerca)
- Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteopetrosis: genetics, treatment and new insights into osteoclast function. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Preclinical Safety and Efficacy of Human CD34(+) Cells Transduced With Lentiviral Vector for the Treatment of Wiskott-Aldrich Syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- 2. Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells. (Articolo in rivista) (Prodotto della ricerca)
- Lentiviral gene transfer of TCIRG1 into peripheral blood CD34+ cells restores osteoclast function in infantile malignant osteopetrosis. (Articolo in rivista) (Prodotto della ricerca)
- Partial V(D)J recombination activity leads to Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration. (Articolo in rivista) (Prodotto della ricerca)
- CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY (Articolo in rivista) (Prodotto della ricerca)
- Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteopetrosis mimicking juvenile myelomonocytic leukemia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Wiskott-Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity (Articolo in rivista) (Prodotto della ricerca)
- Development of central nervous system autoimmunity is impaired in the absence of wiskott-aldrich syndrome protein (Articolo in rivista) (Prodotto della ricerca)
- Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans (Articolo in rivista) (Prodotto della ricerca)
- Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome (Articolo in rivista) (Prodotto della ricerca)
- As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene (Articolo in rivista) (Prodotto della ricerca)
- Rag defects and thymic stroma: Lessons from animal models (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: A single-center experience (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
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