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An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in CD4(+) T cells

Genes and immunity, 2011-03, Vol.12 (2), p.116-125

2011

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NBN phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaks

Oncogene, 2013-09, Vol.32 (37), p.4448-4456

2013

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In‐vivo assessment of T cell kinetics in individuals at risk for type 1 diabetes

Clinical and experimental immunology, 2020-01, Vol.199 (1), p.50-55

2020

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ATM-dependent phosphorylation of nibrin in response to radiation exposure

Nature genetics, 2000-05, Vol.25 (1), p.115-119

2000

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OP0264 Relative Frequencies of Circulating T Follicular Helper and T Follicular Regulatory Cells in Autoimmune Patients and Healthy Control Donors and The Effect of Disease Modulating Therapy

Annals of the rheumatic diseases, 2016-06, Vol.75 (Suppl 2), p.158-158

2016

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DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency

Molecular cell, 2001-12, Vol.8 (6), p.1175-1185

2001

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Distinct Functional Domains of Nibrin Mediate Mre11 Binding, Focus Formation, and Nuclear Localization

Molecular and Cellular Biology, 2001-03, Vol.21 (6), p.2184-2191

2001

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Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Cell, 1998-05, Vol.93 (3), p.467-476

1998

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Nibrin Forkhead-associated Domain and Breast Cancer C-terminal Domain Are Both Required for Nuclear Focus Formation and Phosphorylation

The Journal of biological chemistry, 2003-06, Vol.278 (24), p.21944-21951

2003

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Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation

Mutagenesis, 2000-05, Vol.15 (3), p.281-286

2000

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Active Role for Nibrin in the Kinetics of Atm Activation

Molecular and Cellular Biology, 2006-03, Vol.26 (5), p.1691-1699

2006

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Independent Roles for Nibrin and Mre11-Rad50 in the Activation and Function of Atm

The Journal of biological chemistry, 2004-09, Vol.279 (37), p.38813-38819

2004

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Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype

American journal of human genetics, 1998-07, Vol.63 (1), p.125-134

1998

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Functional delivery of large genomic DNA to human cells with a peptide-lipid vector

The journal of gene medicine, 2003-10, Vol.5 (10), p.883-892

2003

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Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

Journal of medical genetics, 2001-06, Vol.38 (6), p.e19-e19

2001

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Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma

Genes chromosomes & cancer, 2002-11, Vol.35 (3), p.282-286

2002

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A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome

American journal of medical genetics. Part A, 2005-09, Vol.137A (3), p.283-287

2005

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350 Toll-like receptor 7 signalling drives transitional b cells expansion and autoantibody production in systemic lupus erythematosus

Lupus science & medicine, 2017-03, Vol.4 (Suppl 1), p.A153

2017

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The Gene for the Serpin Thrombin Inhibitor (P17), Protease Nexin I, Is Located on Human Chromosome 2q33-q35 and on Syntenic Regions in the Mouse and Sheep Genomes

Genomics (San Diego, Calif.), 1995-05, Vol.27 (1), p.196-199

1995

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Extinction of Albumin Gene Expression in a Panel of Human Chromosome 2 Microcell Hybrids

Genomics (San Diego, Calif.), 1996-02, Vol.31 (3), p.348-358

1996

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An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in [CD4.sup.+] T cells

Genes and immunity, 2011-03, Vol.12 (2), p.116

2011

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An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in CD4 super(+) T cells

Genes and immunity, 2011-03, Vol.12 (2), p.116-125

2011

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Impaired IL-2 Responsiveness and Treg Persistence in T1D is Revealed by Disease-Associated Variants in PTPN2

Clinical immunology (Orlando, Fla.), 2009-01, Vol.131, p.S26-S27

2009

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Comparison of latex agglutination and counterimmunoelectrophoresis for the detection of pneumococcal antigen in elderly pneumonia patients

Journal of Clinical Microbiology, 1985-10, Vol.22 (4), p.553-557

1985

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Molecular analysis of deficient class I H-2 antigen expression by mouse lung carcinoma cells

The Journal of immunology (1950), 1988-06, Vol.140 (11), p.4003-4012

1988

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An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in CD4(+) T cells

NBN phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaks

In‐vivo assessment of T cell kinetics in individuals at risk for type 1 diabetes

ATM-dependent phosphorylation of nibrin in response to radiation exposure

OP0264 Relative Frequencies of Circulating T Follicular Helper and T Follicular Regulatory Cells in Autoimmune Patients and Healthy Control Donors and The Effect of Disease Modulating Therapy

DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency

Distinct Functional Domains of Nibrin Mediate Mre11 Binding, Focus Formation, and Nuclear Localization

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Nibrin Forkhead-associated Domain and Breast Cancer C-terminal Domain Are Both Required for Nuclear Focus Formation and Phosphorylation

Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation

Active Role for Nibrin in the Kinetics of Atm Activation

Independent Roles for Nibrin and Mre11-Rad50 in the Activation and Function of Atm

Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype

Functional delivery of large genomic DNA to human cells with a peptide-lipid vector

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma

A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome

350 Toll-like receptor 7 signalling drives transitional b cells expansion and autoantibody production in systemic lupus erythematosus

The Gene for the Serpin Thrombin Inhibitor (P17), Protease Nexin I, Is Located on Human Chromosome 2q33-q35 and on Syntenic Regions in the Mouse and Sheep Genomes

Extinction of Albumin Gene Expression in a Panel of Human Chromosome 2 Microcell Hybrids

An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in [CD4.sup.+] T cells

An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in CD4 super(+) T cells

Impaired IL-2 Responsiveness and Treg Persistence in T1D is Revealed by Disease-Associated Variants in PTPN2

Comparison of latex agglutination and counterimmunoelectrophoresis for the detection of pneumococcal antigen in elderly pneumonia patients

Molecular analysis of deficient class I H-2 antigen expression by mouse lung carcinoma cells

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