Lista de obras - Anna Villa - Dominio Público Uruguay

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

artículo científico publicado en 2012

A new familial sclerosing bone dysplasia.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 1994

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

article

Cardiac thrombus in Omenn syndrome

artículo científico publicado en 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

artículo científico publicado en 2003

Chromosome transplantation as a novel approach for correcting complex genomic disorders

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

article

Gene therapy for primary immunodeficiencies: Part 2.

artículo científico publicado en 2012

Genetically determined lymphopenia and autoimmune manifestations.

artículo científico publicado en 2008

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

artículo científico publicado en 1994

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.

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Human CD40L Gene Maps between DXS144E and DXS300 in Xq26

article

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

artículo científico publicado en 2008

Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2001

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

artículo científico publicado en 2011

Impaired gastric acidification negatively affects calcium homeostasis and bone mass.

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado el 1 de agosto de 1992

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2000

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

artículo científico publicado en 1995

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.

artículo científico publicado en 2000

Of Omenn and mice.

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Omenn syndrome with mutation in RAG1 gene.

artículo científico publicado en 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.

artículo científico publicado en 2007

Osteopetroses and immunodeficiencies in humans.

artículo científico publicado en 2006

Osteopetrosis mimicking juvenile myelomonocytic leukemia

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico

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

artículo científico publicado en 1998

Polymorphisms of the CLCN7 gene are associated with BMD in women

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

article

Prenatal diagnosis of JAK3 deficient SCID

artículo científico publicado en 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.

artículo científico publicado en 2008

RAG gene defects at the verge of immunodeficiency and immune dysregulation

artículo científico publicado en 2019

RAG-dependent primary immunodeficiencies.

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Rag defects and thymic stroma: lessons from animal models.

artículo científico publicado en 2014

Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Reply: To PMID 24332219.

artículo científico publicado en 2014

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

artículo científico publicado en 1999

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 1998

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 1996

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

artículo científico publicado en 2009

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

artículo científico publicado en 1996

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

artículo científico publicado en 1994

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 1993

Lista de obras de 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