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High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene

American journal of human genetics, 2004-09, Vol.75 (3), p.410-423

2004

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Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase

Nature genetics, 1998, Vol.18 (1), p.38-43

1998

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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Nature genetics, 2000-02, Vol.24 (2), p.163-166

2000

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Induction of MHC Class I Genes in Neurons

Science (American Association for the Advancement of Science), 1995-07, Vol.269 (5223), p.549-552

1995

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Molecular Structure and Functional Characterization of a Human Complement Cytolysis Inhibitor Found in Blood and Seminal Plasma: Identity to Sulfated Glycoprotein 2, a Constituent of Rat Testis Fluid

Proceedings of the National Academy of Sciences - PNAS, 1989-09, Vol.86 (18), p.7123-7127

1989

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Autoprocessing of neutrophil elastase near its active site reduces the efficiency of natural and synthetic elastase inhibitors

Nature communications, 2015-04, Vol.6 (1), p.6722-6722, Article 6722

2015

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Cleavage of La protein by granzyme H induces cytoplasmic translocation and interferes with La-mediated HCV-IRES translational activity

Cell death and differentiation, 2009-02, Vol.16 (2), p.340-348

2009

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Quantitative analysis of protease recognition by inhibitors in plasma using microscale thermophoresis

Scientific reports, 2016-10, Vol.6 (1), p.35413-35413, Article 35413

2016

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Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

Journal of medical genetics, 2003-07, Vol.40 (7), p.520-525

2003

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Migratory Activity and Functional Changes of Green Fluorescent Effector Cells before and during Experimental Autoimmune Encephalomyelitis

Immunity (Cambridge, Mass.), 2001-05, Vol.14 (5), p.547-560

2001

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Clusterin (complement lysis inhibitor) forms a high density lipoprotein complex with apolipoprotein A-I in human plasma

The Journal of biological chemistry, 1991-06, Vol.266 (17), p.11030-11036

1991

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Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region

Journal of medical genetics, 2003-10, Vol.40 (10), p.e116-116

2003

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Three human elastase-like genes coordinately expressed in the myelomonocyte lineage are organized as a single genetic locus on 19pter

Proceedings of the National Academy of Sciences - PNAS, 1992-09, Vol.89 (17), p.8215-8219

1992

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Wegener's autoantigen decoded

Nature (London), 1990-08, Vol.346 (6284), p.520-520

1990

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Production and applications of recombinant proteinase 3, Wegener's autoantigen: problems and perspectives

Clinical nephrology, 2006-09, Vol.66 (3), p.153

2006

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Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions

American journal of human genetics, 2001-09, Vol.69 (3), p.516-527

2001

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Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

European journal of human genetics : EJHG, 2000-06, Vol.8 (6), p.455-459

2000

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The second case of a t(17;22) in a family with neurofibromatosis type 1 : sequence analysis of the breakpoint regions

Human genetics, 1997-02, Vol.99 (2), p.237-247

1997

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Cell specificity of granzyme gene expression

The Journal of immunology (1950), 1990-11, Vol.145 (9), p.3111-3118

1990

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Clusterin: the intriguing guises of a widely expressed glycoprotein

Trends in Biochemical Sciences, 1992-04, Vol.17 (4), p.154-159

1992

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Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6

The Journal of biological chemistry, 1989-10, Vol.264 (30), p.18041-18051

1989

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TIMP1 Triggers Neutrophil Extracellular Trap Formation in Pancreatic Cancer

Cancer research (Chicago, Ill.), 2021-07, Vol.81 (13), p.3568-3579

2021

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Netting neutrophils in autoimmune small-vessel vasculitis

Nature medicine, 2009-06, Vol.15 (6), p.623-625

2009

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Therapeutic targeting of cathepsin C: from pathophysiology to treatment

Pharmacology & therapeutics (Oxford), 2018-10, Vol.190, p.202-236

2018

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New Selective Peptidyl Di(chlorophenyl) Phosphonate Esters for Visualizing and Blocking Neutrophil Proteinase 3 in Human Diseases

The Journal of biological chemistry, 2014-11, Vol.289 (46), p.31777-31791

2014

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High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene

Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Induction of MHC Class I Genes in Neurons

Molecular Structure and Functional Characterization of a Human Complement Cytolysis Inhibitor Found in Blood and Seminal Plasma: Identity to Sulfated Glycoprotein 2, a Constituent of Rat Testis Fluid

Autoprocessing of neutrophil elastase near its active site reduces the efficiency of natural and synthetic elastase inhibitors

Cleavage of La protein by granzyme H induces cytoplasmic translocation and interferes with La-mediated HCV-IRES translational activity

Quantitative analysis of protease recognition by inhibitors in plasma using microscale thermophoresis

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

Migratory Activity and Functional Changes of Green Fluorescent Effector Cells before and during Experimental Autoimmune Encephalomyelitis

Clusterin (complement lysis inhibitor) forms a high density lipoprotein complex with apolipoprotein A-I in human plasma

Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region

Three human elastase-like genes coordinately expressed in the myelomonocyte lineage are organized as a single genetic locus on 19pter

Wegener's autoantigen decoded

Production and applications of recombinant proteinase 3, Wegener's autoantigen: problems and perspectives

Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

The second case of a t(17;22) in a family with neurofibromatosis type 1 : sequence analysis of the breakpoint regions

Cell specificity of granzyme gene expression

Clusterin: the intriguing guises of a widely expressed glycoprotein

Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6

TIMP1 Triggers Neutrophil Extracellular Trap Formation in Pancreatic Cancer

Netting neutrophils in autoimmune small-vessel vasculitis

Therapeutic targeting of cathepsin C: from pathophysiology to treatment

New Selective Peptidyl Di(chlorophenyl) Phosphonate Esters for Visualizing and Blocking Neutrophil Proteinase 3 in Human Diseases

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