A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
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Molecular Mechanism of V(D)J Recombination from Synaptic RAG1-RAG2 Complex Structures.Human RAG mutations: biochemistry and clinical implicationsCompound heterozygous mutation of Rag1 leading to Omenn syndromeA hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.Crystal structure of the V(D)J recombinase RAG1-RAG2Rag defects and thymic stroma: lessons from animal models.Genome-wide detection of DNA double-stranded breaks induced by engineered nucleases.History and current status of newborn screening for severe combined immunodeficiency.Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disordersFunctional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiencyBroad-spectrum antibodies against self-antigens and cytokines in RAG deficiencyLate Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.A Toddler With Rash, Encephalopathy, and Hemolytic Anemia.Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes.Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.Clinical Spectrum of SCID: The Key is in the Thymus?Congenital defects in V(D)J recombination.Severe combined immunodeficiency--an update.Programmed DNA breaks in lymphoid cells: repair mechanisms and consequences in human diseaseCharacterization of T and B cell repertoire diversity in patients with RAG deficiencyPON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.Exome and genome sequencing for inborn errors of immunity.Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical ManifestationsPrimary/Congenital Immunodeficiency: 2015 SH/EAHP Workshop Report-Part 5.Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency-a Report from the Slovenian National Registry.Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.Abnormalities of T cell receptor repertoire in CD4(+) regulatory and conventional T cells in patients with RAG mutations: implications for autoimmunity.Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients.Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).RAG1 reversion mosaicism in a patient with Omenn syndrome.RAG1 deficiency may present clinically as selective IgA deficiency.Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndromeModeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.Severe combined immunodeficiencies and related disorders.
P2860
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P2860
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
A systematic analysis of recom ...... -activating gene 1 deficiency.
@en
A systematic analysis of recom ...... -activating gene 1 deficiency.
@nl
type
label
A systematic analysis of recom ...... -activating gene 1 deficiency.
@en
A systematic analysis of recom ...... -activating gene 1 deficiency.
@nl
prefLabel
A systematic analysis of recom ...... -activating gene 1 deficiency.
@en
A systematic analysis of recom ...... -activating gene 1 deficiency.
@nl
P2093
P2860
P50
P1476
A systematic analysis of recom ...... n-activating gene 1 deficiency
@en
P2093
Andrew R Gennery
Dalia H El-Ghoneimy
Francoise LeDeist
Frederick W Alt
Jack H Bleesing
Jennifer M Puck
Jolan E Walter
Karin Chen
Lauren A Henderson
Luigi D Notarangelo
P2860
P304
P356
10.1016/J.JACI.2013.10.007
P407
P50
P577
2013-11-28T00:00:00Z