Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature (Q33393574)

26 July 2017

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature (English)

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Jean-Laurent Casanova

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Martine Le Merrer

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Véronique Baudouin

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Veronique Baudouin

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Sabine Scholl-Bürgi

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Emma Hilton

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Tracy Briggs

Tracy A Briggs

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Jill E. Urquhart

Jill Urquhart

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Gillian I. Rice

Gillian I Rice

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Simon C Lovell

Simon C Lovell

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Brigitte Bader-Meunier

Brigitte Bader-Meunier

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Yanick J. Crow

Yanick J Crow

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Agnès Linglart

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Agnes Linglart

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Chaim M Roifman

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Sarah Daly

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Hannah Gornall

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Kannan Baskar

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Shankar Baskar

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Michael W Beresford

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Rebecca J Dearman

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Francis de Zegher

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Emily S Foster

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Camille Francès

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Alison R Hayman

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Chantal Job-Deslandre

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Muralidhar L Kulkarni

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Kathrin Maurer

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Lucile Musset

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Vincent Navarro

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Frederic Rieux-Laucat

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Nigel Smith

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Marcin Szynkiewicz

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Alice Wiedeman

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Carine Wouters

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Leo A H Zeef

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Keith B Elkon

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Anthony Janckila

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Pierre Lebon

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language of work or name

English

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publication date

9 January 2011

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127-131

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https://scigraph.springernature.com/pub.10.1038/ng.748

26 July 2017

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cites work

C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes

1 reference

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KING (Kinemage, Next Generation): a versatile interactive molecular and scientific visualization program

21 June 2018

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Complement in human diseases: Lessons from complement deficiencies

21 June 2018

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Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

21 June 2018

1 reference

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Age- and gender-specific modulation of serum osteopontin and interferon-alpha by osteopontin genotype in systemic lupus erythematosus.

21 June 2018

1 reference

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Trex1 prevents cell-intrinsic initiation of autoimmunity

21 June 2018

1 reference

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Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

21 June 2018

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Type I interferon in systemic lupus erythematosus.

21 June 2018

1 reference

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Osteopontin expression is essential for interferon-alpha production by plasmacytoid dendritic cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3030921

Crystal structures of recombinant human purple Acid phosphatase with and without an inhibitory conformation of the repression loop

21 June 2018

1 reference

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Statistical significance for genomewide studies

21 June 2018

1 reference

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Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus

21 June 2018

1 reference

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Phosphorylation-dependent interaction of osteopontin with its receptors regulates macrophage migration and activation.

21 June 2018

1 reference

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Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient mice

21 June 2018

1 reference

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Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3030921

The penultimate rotamer library

21 June 2018

1 reference

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Asparagine and glutamine: using hydrogen atom contacts in the choice of side-chain amide orientation

21 June 2018

1 reference

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Visualizing and quantifying molecular goodness-of-fit: small-probe contact dots with explicit hydrogen atoms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3030921

Induction of interferon-alpha by glycoprotein D of herpes simplex virus: a possible role of chemokine receptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3030921

Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3030921

The 1982 revised criteria for the classification of systemic lupus erythematosus

21 June 2018

1 reference

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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

21 June 2018

1 reference

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

21 January 2018

1 reference

Brain calcification in patients with cerebral lupus.

21 January 2018

1 reference

Tartrate-resistant acid phosphatase (Acp 5): identification in diverse human tissues and dendritic cells.

21 January 2018

1 reference

Sequence and TLR9 independent increase of TRACP expression by antisense DNA and siRNA molecules.

21 January 2018

1 reference

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

21 January 2018

1 reference

Development of immunoassays for serum tartrate-resistant acid phosphatase isoform 5a.

21 January 2018

1 reference

[Interferon alpha production in the serum of very young infants after viral infections]

21 January 2018

1 reference

12 December 2020

Failure to detect antiviral activity in serum and plasma of healthy individuals displaying high activity in ELISA for IFN-alpha and IFN-beta

1 reference

12 December 2020

Significance of serum TRACP in rheumatoid arthritis

1 reference

12 December 2020

C1q inhibits immune complex-induced interferon-alpha production in plasmacytoid dendritic cells: a novel link between C1q deficiency and systemic lupus erythematosus pathogenesis

1 reference

12 December 2020

Spondyloenchondrodysplasia

1 reference

12 December 2020

The penultimate rotamer library

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.748

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Dimensions Publication ID

26 July 2017

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26 July 2017

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