Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations (Q37886671)

24 August 2017

title

Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations (English)

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24 August 2017

P Garred

9

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author name string

L Schejbel

1

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L Skattum

2

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S Hagelberg

3

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A Åhlin

4

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B Schiller

5

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S Berg

6

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F Genel

7

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L Truedsson

8

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publication date

9 June 2011

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24 August 2017

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volume

12

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issue

8

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page(s)

626-634

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https://scigraph.springernature.com/pub.10.1038/gene.2011.39

24 August 2017

exact match

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cites work

Complement. First of two parts

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Structural and functional anatomy of the globular domain of complement protein C1q.

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Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q

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C1q and tumor necrosis factor superfamily: modularity and versatility

21 January 2018

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https://api.crossref.org/works/10.1038%2FGENE.2011.39

The crystal structure of the globular head of complement protein C1q provides a basis for its versatile recognition properties

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Structure and activation of the C1 complex of complement: unraveling the puzzle.

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Reconstitution of the Complement Function in C1q-Deficient (C1qa-/-) Mice with Wild-Type Bone Marrow Cells

21 January 2018

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Restoration of C1q levels by bone marrow transplantation attenuates autoimmune disease associated with C1q deficiency in mice

21 January 2018

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The non-classical functions of the classical complement pathway recognition subcomponent C1q.

21 January 2018

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Systemic lupus erythematosus, complement deficiency, and apoptosis

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C1q, autoimmunity and apoptosis

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Role of surfactant proteins A, D, and C1q in the clearance of apoptotic cells in vivo and in vitro: calreticulin and CD91 as a common collectin receptor complex

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Complement deficiencies and systemic lupus erythematosus

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Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency

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Molecular basis of hereditary C1q deficiency

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Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects

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Hereditary C1q deficiency and secondary Sjögren's syndrome

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Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis

21 January 2018

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Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family

21 January 2018

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Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families

21 January 2018

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SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience

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Molecular, genetic and epidemiologic studies on selective complete C1q deficiency in Turkey

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C1q deficiency and autoimmunity: the effects of genetic background on disease expression.

21 January 2018

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Pediatric systemic lupus erythematosus with C1q deficiency

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C1q: structure, function, and receptors

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7 January 2021

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

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7 January 2021

Direct binding of C1q to apoptotic cells and cell blebs induces complement activation

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.39

7 January 2021

A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.39

7 January 2021

Complement C1q and C8 deficiency in an individual with recurrent bacterial meningitis and adult-onset systemic lupus erythematosus-like illness

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https://api.crossref.org/works/10.1038%2FGENE.2011.39

7 January 2021

PCR-RFLP genotyping of C1q mutations and single nucleotide polymorphisms in Malaysian patients with systemic lupus erythematosus

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https://api.crossref.org/works/10.1038%2FGENE.2011.39

7 January 2021

C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations

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https://api.crossref.org/works/10.1038%2FGENE.2011.39

7 January 2021

C1q and systemic lupus erythematosus

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https://api.crossref.org/works/10.1038%2FGENE.2011.39

7 January 2021

Systemic lupus erythematosus with C1q deficiency

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.39

7 January 2021

Extensive ulcerations due to pyoderma gangrenosum in a child with juvenile systemic lupus erythematosus and C1q deficiency.

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.39

7 January 2021

Identifiers

DOI

10.1038/GENE.2011.39

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24 August 2017

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