List of works - Anna Villa

A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient

scientific article published on 31 July 2012

A new familial sclerosing bone dysplasia.

scientific article published in March 2010

A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis

article

A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells.

scientific article published on 24 July 2015

A response unit in the first exon of the beta-amyloid precursor protein gene containing thyroid hormone receptor and Sp1 binding sites mediates negative regulation by 3,5,3'-triiodothyronine

scientific article published on 8 January 2004

A single-center experience in 20 patients with infantile malignant osteopetrosis

scientific article published in August 2009

ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency

scientific article

Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID

scientific article

An analysis in human lymphomas of a Jα region involved in a C-MYCJα translocation; Relationship with TCR alpha, beta, and gamma rearrangements

scientific article published on 01 July 1988

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.

scientific article

Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications

scientific article published on 21 June 2012

Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs

scientific article

As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.

scientific article

Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women

scientific article published on 6 October 2003

Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage.

scientific article

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.

scientific article published on 10 January 2012

B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.

scientific article published on 16 March 2015

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

scientific article published on 21 May 2015

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome

scientific article published on 01 January 1994

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

article

Cardiac thrombus in Omenn syndrome

scientific article published in September 2005

Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in theTCIRG1Gene in Five Osteopetrotic Patients

article

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

scientific article (publication date: October 2003)

Chromosome transplantation as a novel approach for correcting complex genomic disorders

scientific article published on 17 October 2015

Correction of murine Rag2 severe combined immunodeficiency by lentiviral gene therapy using a codon-optimized RAG2 therapeutic transgene

scientific article

Corrigendum to "Evidence for Long-term Efficacy and Safety of Gene Therapy for Wiskott-Aldrich Syndrome in Preclinical Models".

scientific article published on July 2009

Defect of regulatory T cells in patients with Omenn syndrome

scientific article published on 01 January 2010

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

scientific article (publication date: July 2000)

Dendritic cell functional improvement in a preclinical model of lentiviral-mediated gene therapy for Wiskott-Aldrich syndrome

scientific article

Development of central nervous system autoimmunity is impaired in the absence of Wiskott-Aldrich syndrome protein

scientific article published on 23 January 2014

Early and multifocal tumors in breast, salivary, Harderian and epididymal tissues developed in MMTY-Neu transgenic mice

scientific article published in July 1992

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

scientific article published on 04 May 2009

Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models

scientific article

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

scientific article

Fidelity of a YAC clone in the region of human MCF-2 gene

article

Gene therapy for primary immunodeficiencies: Part 2.

scientific article published on 18 August 2012

Genetically determined lymphopenia and autoimmune manifestations.

scientific article published on 09 April 2008

Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28

scientific article

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

scientific journal article

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

scientific article

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

scientific article

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

scientific article

Human CD40L Gene Maps between DXS144E and DXS300 in Xq26

article

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

scientific article

Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells

scientific article

Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration.

scientific article published on 19 September 2013

IL-10 critically modulates B cell responsiveness in Rankl-/- mice.

scientific article published on 30 March 2015

Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency

scientific article published in September 2001

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I

scientific article

Impaired gastric acidification negatively affects calcium homeostasis and bone mass.

scientific article published in June 2009

In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects

scientific article

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

scientific article

Isolation of a zinc finger motif (ZNF75) mapping on chromosome Xq26

scientific article published on August 1, 1992

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

scientific article

Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis

scientific article published on 29 July 2013

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

scientific article

Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome

scientific article

Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients

scientific article

Long-term molecular and cellular stability of human neural stem cell lines.

scientific article published on April 2004

Molecular Modeling of the Jak3 Kinase Domains and Structural Basis for Severe Combined Immunodeficiency

article

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

scientific article published in January 2010

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

scientific article

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies

scientific article published in August 2000

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

scientific article

N-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.

scientific article published in December 2000

Of Omenn and mice.

scientific article published on 05 February 2008

Omenn syndrome does not live by V(D)J recombination alone.

scientific article published on December 2011

Omenn syndrome with mutation in RAG1 gene.

scientific article published on September 2008

Omenn's syndrome occurring in patients without mutations in recombination activating genes

article

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

scientific article published on 15 July 2007

Osteopetroses and immunodeficiencies in humans.

scientific article published on December 2006

Osteopetrosis mimicking juvenile myelomonocytic leukemia

scientific article published on 01 October 2014

Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO.

scientific article

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

scientific article published on 23 July 2013

Partial V(D)J recombination activity leads to Omenn syndrome

scientific article

Polymorphisms of the CLCN7 gene are associated with BMD in women

scientific article

PrP(C) regulates epidermal growth factor receptor function and cell shape dynamics in Neuro2a cells.

scientific article published on 28 May 2013

Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1.

scientific article published in October 2017

Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome

scientific article

Preimplantation embryo sexing by polymerase chain reaction amplification of the sry gene on single mouse blastomeres

article

Prenatal diagnosis of JAK3 deficient SCID

scientific article published in July 1999

Prenatal diagnosis of RAG-deficient Omenn syndrome

scientific article published on 01 January 2000

Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation.

scientific article

RAG gene defects at the verge of immunodeficiency and immune dysregulation

scientific article published on 01 January 2019

RAG-dependent primary immunodeficiencies.

scientific article published on December 2006

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations

scientific article published in February 2012

Rag defects and thymic stroma: lessons from animal models.

scientific article

Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome

scientific article

Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome

scientific article published on 9 December 2013

Reply: To PMID 24332219.

scientific article published on 26 June 2014

Retrovirus-mediated IL-4 gene therapy in spontaneous adenocarcinomas from MMTV-neu transgenic mice.

scientific article published in November 1999

Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs.

scientific article

Severe Combined Immunodeficiency in Greek Children over a 20-Year Period

scientific article published on 06 July 2011

Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway

scientific article published in January 1998

Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience

scientific article published in February 2014

Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis.

scientific article published on 26 March 2014

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

scientific article

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

scientific article

The Chromosome Localization and the HCF Repeats of the Human Host Cell Factor Gene (HCFC1) Are Conserved in the Mouse Homologue

scientific article published on 01 March 1996

The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function.

scientific article published on 23 March 2009

The ZNF75 zinc finger gene subfamily: isolation and mapping of the four members in humans and great apes.

scientific article published in July 1996

The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280.

scientific article published in May 1994

Tissue-specific sensitivity to AID expression in transgenic mouse models.

scientific article published on 3 May 2006

Type 2 vasopressin receptor gene, the gene responsible nephrogenic diabetes insipidus, maps to Xq28 close to the LICAM gene

scientific article published on June 1993

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

scientific article published on 01 January 2001

Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone

scientific article

WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells

scientific article published on 12 February 2007

Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

scientific article

Wiskott-Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity

scientific article published on 13 January 2014

Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells

scientific article published on 21 January 2013

ZNF75: isolation of a cDNA clone of the KRAB zinc finger gene subfamily mapped in YACs 1 Mb telomeric of HPRT

scientific article

List of works by Anna Villa

A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient

A new familial sclerosing bone dysplasia.

A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis

A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells.

A response unit in the first exon of the beta-amyloid precursor protein gene containing thyroid hormone receptor and Sp1 binding sites mediates negative regulation by 3,5,3'-triiodothyronine

A single-center experience in 20 patients with infantile malignant osteopetrosis

ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency

Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID

An analysis in human lymphomas of a Jα region involved in a C-MYCJα translocation; Relationship with TCR alpha, beta, and gamma rearrangements

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.

Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications

Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs

As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.

Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women

Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage.

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.

B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

Cardiac thrombus in Omenn syndrome

Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in theTCIRG1Gene in Five Osteopetrotic Patients

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

Chromosome transplantation as a novel approach for correcting complex genomic disorders

Correction of murine Rag2 severe combined immunodeficiency by lentiviral gene therapy using a codon-optimized RAG2 therapeutic transgene

Corrigendum to "Evidence for Long-term Efficacy and Safety of Gene Therapy for Wiskott-Aldrich Syndrome in Preclinical Models".

Defect of regulatory T cells in patients with Omenn syndrome

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Dendritic cell functional improvement in a preclinical model of lentiviral-mediated gene therapy for Wiskott-Aldrich syndrome

Development of central nervous system autoimmunity is impaired in the absence of Wiskott-Aldrich syndrome protein

Early and multifocal tumors in breast, salivary, Harderian and epididymal tissues developed in MMTY-Neu transgenic mice

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

Fidelity of a YAC clone in the region of human MCF-2 gene

Gene therapy for primary immunodeficiencies: Part 2.

Genetically determined lymphopenia and autoimmune manifestations.

Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

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

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

Human CD40L Gene Maps between DXS144E and DXS300 in Xq26

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells

Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration.

IL-10 critically modulates B cell responsiveness in Rankl-/- mice.

Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I

Impaired gastric acidification negatively affects calcium homeostasis and bone mass.

In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

Isolation of a zinc finger motif (ZNF75) mapping on chromosome Xq26

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome

Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients

Long-term molecular and cellular stability of human neural stem cell lines.

Molecular Modeling of the Jak3 Kinase Domains and Structural Basis for Severe Combined Immunodeficiency

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

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

N-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.

Of Omenn and mice.

Omenn syndrome does not live by V(D)J recombination alone.

Omenn syndrome with mutation in RAG1 gene.

Omenn's syndrome occurring in patients without mutations in recombination activating genes

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

Osteopetroses and immunodeficiencies in humans.

Osteopetrosis mimicking juvenile myelomonocytic leukemia

Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO.

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Partial V(D)J recombination activity leads to Omenn syndrome

Polymorphisms of the CLCN7 gene are associated with BMD in women

PrP(C) regulates epidermal growth factor receptor function and cell shape dynamics in Neuro2a cells.

Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1.

Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome