Lista de obras - Yu Nee Lee - Dominio Público Uruguay

A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis

scientific article published on 14 December 2019

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

artículo científico publicado en 2014

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

artículo científico publicado en 2012

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

artículo científico publicado en 2013

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation

artículo científico publicado en 2012

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

artículo científico publicado en 2015

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

artículo científico publicado en 2016

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

scientific article published on 01 October 2019

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

artículo científico

Differential utilization of T cell receptor TCR alpha/TCR delta locus variable region gene segments is mediated by accessibility

artículo científico publicado en 2009

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

artículo científico publicado en 2017

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium

artículo científico publicado en 2016

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

artículo científico publicado en 2013

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

artículo científico publicado en 2015

Human RAG mutations: biochemistry and clinical implications

artículo científico publicado en 2016

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

artículo científico publicado en 2010

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders

artículo científico publicado en 2014

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis

artículo científico publicado en 2014

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

artículo científico publicado en 2021

Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection

artículo científico publicado en 2015

Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells

artículo científico publicado en 2014

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

artículo científico publicado en 2016

Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.

artículo científico publicado en 2016

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome

artículo científico publicado en 2014

Next-Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic Arthritis

artículo científico publicado en 2016

Nonconventional involvement of LysRS in the molecular mechanism of USF2 transcriptional activity in FcepsilonRI-activated mast cells

artículo científico publicado en 2005

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

scientific article published on 29 April 2019

RAG1 reversion mosaicism in a patient with Omenn syndrome

artículo científico publicado en 2014

Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes

artículo científico publicado en 2016

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

artículo científico publicado en 2019

The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells

artículo científico publicado en 2004

Timely and spatially regulated maturation of B and T cell repertoire during human fetal development

artículo científico publicado en 2015

c-Fos as a regulator of degranulation and cytokine production in FcepsilonRI-activated mast cells

artículo científico publicado en 2004

Lista de obras de Yu Nee Lee

A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

Differential utilization of T cell receptor TCR alpha/TCR delta locus variable region gene segments is mediated by accessibility

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Human RAG mutations: biochemistry and clinical implications

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection

Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome

Next-Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic Arthritis

Nonconventional involvement of LysRS in the molecular mechanism of USF2 transcriptional activity in FcepsilonRI-activated mast cells

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

RAG1 reversion mosaicism in a patient with Omenn syndrome

Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells

Timely and spatially regulated maturation of B and T cell repertoire during human fetal development

c-Fos as a regulator of degranulation and cytokine production in FcepsilonRI-activated mast cells