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Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

Journal of allergy and clinical immunology, 2015-02, Vol.135 (2), p.561-564.e4

2015

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Neuromuscular involvement in various types of Ehlers-Danlos syndrome

Annals of neurology, 2009-06, Vol.65 (6), p.687-697

2009

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Epidermal equivalents of filaggrin null keratinocytes do not show impaired skin barrier function

Journal of allergy and clinical immunology, 2017-06, Vol.139 (6), p.1979-1981.e13

2017

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Skin microbiota in health and disease: From sequencing to biology

Journal of dermatology, 2020-10, Vol.47 (10), p.1110-1118

2020

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Successful canakinumab treatment identifies IL-1β as a pivotal mediator in Schnitzler syndrome

Journal of allergy and clinical immunology, 2011-12, Vol.128 (6), p.1352-1354

2011

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A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency

The New England journal of medicine, 2001-10, Vol.345 (16), p.1167-1175

2001

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Cathepsin B as a potential cystatin M/E target in the mouse hair follicle

The FASEB journal, 2017-10, Vol.31 (10), p.4286-4294

2017

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Absent in Melanoma 2 is predominantly present in primary melanoma and primary squamous cell carcinoma, but largely absent in metastases of both tumors

Journal of the American Academy of Dermatology, 2014-11, Vol.71 (5), p.1012-1015

2014

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cystatin M/E-cathepsin L balance is essential for tissue homeostasis in epidermis, hair follicles, and cornea

The FASEB journal, 2010-10, Vol.24 (10), p.3744-3755

2010

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Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats

Nucleic acids research, 2007-02, Vol.35 (3), p.e19

2007

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STAT1 gain-of-function compromises skin host defense in the context of IFN-γ signaling

Journal of allergy and clinical immunology, 2019-04, Vol.143 (4), p.1626-1629.e5

2019

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Gram-positive anaerobe cocci are underrepresented in the microbiome of filaggrin-deficient human skin : Letter to the editor

Journal of allergy and clinical immunology, 2017, Vol.139 (4)

2017

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Successful canakinumab treatment identifies IL-1I2 as a pivotal mediator in Schnitzler syndrome

Journal of allergy and clinical immunology, 2011-12, Vol.128 (6), p.1352-1354

2011

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Successful canakinumab treatment identifies IL-1[beta] as a pivotal mediator in Schnitzler syndrome

Journal of allergy and clinical immunology, 2011-12, Vol.128 (6), p.1352

2011

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A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes

Human molecular genetics, 2008-07, Vol.17 (13), p.1968-1977

2008

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Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28

Human molecular genetics, 2002-11, Vol.11 (23), p.2877-2885

2002

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A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification

Human molecular genetics, 2002-11, Vol.11 (23), p.2867-2875

2002

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Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice

Human molecular genetics, 2004-05, Vol.13 (10), p.1069-1079

2004

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Differential gene expression in premalignant human epidermis revealed by cluster analysis of serial analysis of gene expression (SAGE) libraries

The FASEB journal, 2002-02, Vol.16 (2), p.1-19

2002

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Insulin‐like growth factor stimulation of chondrocyte proteoglycan synthesis by human synovial fluid

Arthritis and rheumatism, 1989-01, Vol.32 (1), p.66-71

1989

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Joint hypermobility syndromes: The pathophysiologic role of tenascin‐X gene defects

Arthritis and rheumatism, 2004-09, Vol.50 (9), p.2742-2749

2004

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An experimental model for hydrogen peroxide–induced tissue damage. Effects of a single inflammatory mediator on (peri)articular tissues

Arthritis and rheumatism, 1986-04, Vol.29 (4), p.532-538

1986

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Age‐ and sex‐related differences in antigen‐induced arthritis in c57bl/10 mice

Arthritis and rheumatism, 1989-06, Vol.32 (6), p.789-794

1989

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A potential role for glycated cross-links in abdominal aortic aneurysm disease

Journal of vascular surgery, 2017-05, Vol.65 (5), p.1493-1503.e3

2017

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Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

Epidermal equivalents of filaggrin null keratinocytes do not show impaired skin barrier function

Skin microbiota in health and disease: From sequencing to biology

Successful canakinumab treatment identifies IL-1β as a pivotal mediator in Schnitzler syndrome

A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency

Cathepsin B as a potential cystatin M/E target in the mouse hair follicle

Absent in Melanoma 2 is predominantly present in primary melanoma and primary squamous cell carcinoma, but largely absent in metastases of both tumors

cystatin M/E-cathepsin L balance is essential for tissue homeostasis in epidermis, hair follicles, and cornea

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats

STAT1 gain-of-function compromises skin host defense in the context of IFN-γ signaling

Gram-positive anaerobe cocci are underrepresented in the microbiome of filaggrin-deficient human skin : Letter to the editor

Successful canakinumab treatment identifies IL-1I2 as a pivotal mediator in Schnitzler syndrome

Successful canakinumab treatment identifies IL-1[beta] as a pivotal mediator in Schnitzler syndrome

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28

A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification

Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice

Differential gene expression in premalignant human epidermis revealed by cluster analysis of serial analysis of gene expression (SAGE) libraries

Insulin‐like growth factor stimulation of chondrocyte proteoglycan synthesis by human synovial fluid

Joint hypermobility syndromes: The pathophysiologic role of tenascin‐X gene defects

An experimental model for hydrogen peroxide–induced tissue damage. Effects of a single inflammatory mediator on (peri)articular tissues

Age‐ and sex‐related differences in antigen‐induced arthritis in c57bl/10 mice

A potential role for glycated cross-links in abdominal aortic aneurysm disease

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