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Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and boneHuman osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutationsZNF75: isolation of a cDNA clone of the KRAB zinc finger gene subfamily mapped in YACs 1 Mb telomeric of HPRTPartial V(D)J recombination activity leads to Omenn syndromeInvolvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humansAtaxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage.Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcsDefects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosisChloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosisTCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNAPolymorphisms of the CLCN7 gene are associated with BMD in womenMutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and humanTargeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional OsteoclastsMolecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models.Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome.Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs.Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome.Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome.Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cellsAnalysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficienciesRag defects and thymic stroma: lessons from animal models.Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndromeLentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type IRANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutationsN-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.Dendritic cell functional improvement in a preclinical model of lentiviral-mediated gene therapy for Wiskott-Aldrich syndromeLentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCIDCorrection of murine Rag2 severe combined immunodeficiency by lentiviral gene therapy using a codon-optimized RAG2 therapeutic transgene.Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutationsChromosome transplantation as a novel approach for correcting complex genomic disordersRAG-dependent primary immunodeficiencies.Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells.
P50
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
@hy
name
Anna Villa
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Anna Villa
@en
Anna Villa
@es
Anna Villa
@nl
type
label
Anna Villa
@ast
Anna Villa
@en
Anna Villa
@es
Anna Villa
@nl
prefLabel
Anna Villa
@ast
Anna Villa
@en
Anna Villa
@es
Anna Villa
@nl
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P21
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P496
0000-0003-4428-9013