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Understanding Alzheimer Disease at the Interface between Genetics and Transcriptomics

Trends in genetics, 2018-06, Vol.34 (6), p.434-447

2018

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Doxycycline therapy for abdominal aneurysm: Improved proteolytic balance through reduced neutrophil content

Journal of vascular surgery, 2009-03, Vol.49 (3), p.741-749

2009

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Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

Disease models & mechanisms, 2019-11, Vol.12 (11)

2019

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Defining a new immune deficiency syndrome: MAN2B2-CDG

Journal of allergy and clinical immunology, 2020-03, Vol.145 (3), p.1008-1011

2020

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MicroRNA-326 acts as a molecular switch in the regulation of midbrain urocortin 1 expression

Journal of psychiatry & neuroscience, 2016-09, Vol.41 (5), p.342-353

2016

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BACE1 activity in cerebrospinal fluid and its relation to markers of AD pathology

Journal of Alzheimer's disease, 2010-01, Vol.20 (1), p.253

2010

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P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases

Genetics in Medicine Open, 2024, Vol.2, p.101242, Article 101242

2024

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P341: Identification of novel variants and phenotypic expansion in OGT-CDG

Genetics in Medicine Open, 2023, Vol.1 (1), p.100369, Article 100369

2023

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Cathepsin K Is the Principal Protease in Giant Cell Tumor of Bone

The American journal of pathology, 2004-08, Vol.165 (2), p.593-600

2004

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Collagenase matrix metalloproteinase-8 expressed in atherosclerotic carotid plaques is associated with systemic cardiovascular outcome

European heart journal, 2011-09, Vol.32 (18), p.2314-2325

2011

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Active TGF‐β1 correlates with myofibroblasts and malignancy in the colorectal adenoma‐carcinoma sequence

Cancer science, 2009-04, Vol.100 (4), p.663-670

2009

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Profiling the secretion of soluble mediators by end stage osteoarthritis synovial tissue explants reveals a reduced responsiveness to an inflammatory trigger

PloS one, 2013-05, Vol.8 (5), p.e62634-e62634

2013

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Urinary matrix metalloproteinase-8 and -9 activities in type 2 diabetic subjects: A marker of incipient diabetic nephropathy?

Clinical biochemistry, 2010-05, Vol.43 (7), p.635-639

2010

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Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Genetics in medicine, 2020-02, Vol.22 (2), p.268-279

2020

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Statin treatment is not associated with consistent alterations in inflammatory status of carotid atherosclerotic plaques : A retrospective study in 378 patients undergoing carotid endarterectomy

Stroke (1970), 2006-08, Vol.37 (8), p.2054-2060

2006

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Effect of the anti‐tumor necrosis factor‐α antibody infliximab on the ex vivo mucosal matrix metalloproteinase–proteolytic phenotype in inflammatory bowel disease

Inflammatory bowel diseases, 2007-02, Vol.13 (2), p.200-210

2007

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Metalloproteinase inhibition reduces constrictive arterial remodeling after balloon angioplasty: A study in the atherosclerotic Yucatan micropig

Circulation (New York, N.Y.), 2000-06, Vol.101 (25), p.2962-2967

2000

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A novel transgenic mouse model of hyperfibrinogenemia

Thrombosis and haemostasis, 2001-08, Vol.86 (2), p.511

2001

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Assessment of the clinical significance of serum matrix metalloproteinases MMP-2 and MMP-9 in patients with various chronic liver diseases and hepatocellular carcinoma

Thrombosis and haemostasis, 2003-04, Vol.89 (4), p.718

2003

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Synthesis and Biological Evaluation of Novel Prodrugs of Anthracyclines for Selective Activation by the Tumor-Associated Protease Plasmin

Journal of medicinal chemistry, 1999-12, Vol.42 (25), p.5277-5283

1999

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Age-related changes in plaque composition: a study in patients suffering from carotid artery stenosis

Cardiovascular pathology, 2005-05, Vol.14 (3), p.126

2005

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CARDIOMYOPATHY-RELATED GENETIC VARIANTS AND THEIR PHENOTYPES: A GENOTYPE-FIRST APPROACH

Journal of the American College of Cardiology, 2024-04, Vol.83 (13), p.715-715

2024

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Adenoviral expression of a urokinase receptor-targeted protease inhibitor inhibits neointima formation in murine and human blood vessels

Circulation (New York, N.Y.), 2001-01, Vol.103 (4), p.562-569

2001

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The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

American journal of human genetics, 2019-05, Vol.104 (5), p.835-846

2019

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A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42

Alzheimer's & dementia, 2015-12, Vol.11 (12), p.1452-1460

2015

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Understanding Alzheimer Disease at the Interface between Genetics and Transcriptomics

Doxycycline therapy for abdominal aneurysm: Improved proteolytic balance through reduced neutrophil content

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

Defining a new immune deficiency syndrome: MAN2B2-CDG

MicroRNA-326 acts as a molecular switch in the regulation of midbrain urocortin 1 expression

BACE1 activity in cerebrospinal fluid and its relation to markers of AD pathology

P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases

P341: Identification of novel variants and phenotypic expansion in OGT-CDG

Cathepsin K Is the Principal Protease in Giant Cell Tumor of Bone

Collagenase matrix metalloproteinase-8 expressed in atherosclerotic carotid plaques is associated with systemic cardiovascular outcome

Active TGF‐β1 correlates with myofibroblasts and malignancy in the colorectal adenoma‐carcinoma sequence

Profiling the secretion of soluble mediators by end stage osteoarthritis synovial tissue explants reveals a reduced responsiveness to an inflammatory trigger

Urinary matrix metalloproteinase-8 and -9 activities in type 2 diabetic subjects: A marker of incipient diabetic nephropathy?

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Statin treatment is not associated with consistent alterations in inflammatory status of carotid atherosclerotic plaques : A retrospective study in 378 patients undergoing carotid endarterectomy

Effect of the anti‐tumor necrosis factor‐α antibody infliximab on the ex vivo mucosal matrix metalloproteinase–proteolytic phenotype in inflammatory bowel disease

Metalloproteinase inhibition reduces constrictive arterial remodeling after balloon angioplasty: A study in the atherosclerotic Yucatan micropig

A novel transgenic mouse model of hyperfibrinogenemia

Assessment of the clinical significance of serum matrix metalloproteinases MMP-2 and MMP-9 in patients with various chronic liver diseases and hepatocellular carcinoma

Synthesis and Biological Evaluation of Novel Prodrugs of Anthracyclines for Selective Activation by the Tumor-Associated Protease Plasmin

Age-related changes in plaque composition: a study in patients suffering from carotid artery stenosis

CARDIOMYOPATHY-RELATED GENETIC VARIANTS AND THEIR PHENOTYPES: A GENOTYPE-FIRST APPROACH

Adenoviral expression of a urokinase receptor-targeted protease inhibitor inhibits neointima formation in murine and human blood vessels

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42

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