C1-inhibitor and its genetic alterations in hereditary angioneurotic edema (Q40829855)

24 September 2017

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title

C1-inhibitor and its genetic alterations in hereditary angioneurotic edema (English)

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24 September 2017

Donaldson VH

1

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24 September 2017

1 January 1993

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International Reviews of Immunology

24 September 2017

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24 September 2017

10

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24 September 2017

1

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24 September 2017

1-16

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Some properties of an esterase derived from preparations of the first component of complement

24 September 2017

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Studies on the activation of a proesterase associated with partially purified first component of human complement

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Studies on the activation of a serum esterase with ether and its relationship to C'l-esterase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

The inhibition of plasmin, plasma kallikrein, plasma permeability factor, and the C'1r subcomponent of the first component of complement by serum C'1 esterase inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Nerve growth factor biosynthesis: isolation and characterization of a guinea pig prostate kallikrein.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

C1 inhibitor and hereditary angioneurotic edema

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

C1̅ Inhibitor: Evidence for Decreased Hepatic Synthesis in Hereditary Angioneurotic Edema

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Complement biosynthesis by the human hepatoma-derived cell line HepG2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Chromatographic resolution of the first component of human complement into three activities

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

The enzymatic nature of C'1r. Conversion of C'1s to C'1 esterase and digestion of amino acid esters by C'1r

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Interaction of 125I-labelled complement subcomponents C-1r and C-1s with protease inhibitors in plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Mechanisms of activation of C'1 esterase in hereditary angioneurotic edema plasma in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Studies on human plasma C1 inactivator-enzyme interactions. I. Mechanisms of interaction with C1s, plasmin, and trypsin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

The behavior of alpha2-plasmin inhibitor in fibrinolytic states

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Alpha2-plasmin inhibitor and alpha2-macroglobulin-plasmin complexes in plasma. Quantitation by an enzyme-linked differential antibody immunosorbent assay

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Contribution of Plasma Protease Inhibitors to the Inactivation of Kallikrein in Plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Inactivation of kallikrein in human plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Inactivation of factor XII active fragment in normal plasma. Predominant role of C-1-inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Permeability-increasing activity in hereditary angioneurotic edema plasma. II. Mechanism of formation and partial characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Effect of C'1 esterase on vascular permeability in man: studies in normal and complement-deficient individuals and in patients with hereditary angioneurotic edema

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Prekallikrein activation and high-molecular-weight kininogen consumption in hereditary angioedema

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

HEREDITARY ANGIO-NEUROTIC ŒDEMA

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Variability in purified dysfunctional C1(-)-inhibitor proteins from patients with hereditary angioneurotic edema. Functional and analytical gel studies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Plasma levels of C1- inhibitor complexes and cleaved C1- inhibitor in patients with hereditary angioneurotic edema.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Synthesis of C1 inhibitor in fibroblasts from patients with type I and type II hereditary angioneurotic edema

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Isolation and analysis of a cDNA coding for human C1 inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Genomic and cDNA cloning of the human C1 inhibitor. Intron-exon junctions and comparison with other serpins

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Repetitive sequences in eukaryotic DNA and their expression

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Alu sequences are processed 7SL RNA genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Inhibitory spectrum of alpha 2-plasmin inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Human plasma alpha 2-macroglobulin. An inhibitor of plasma kallikrein

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Inhibitors of kallikrein in human plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Substrates of Hageman factor. I. Isolation and characterization of human factor XI (PTA) and inhibition of the activated enzyme by alpha 1-antitrypsin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Treatment of hereditary angioedema

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Hereditary angioedema: its diagnostic and management perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

Treatment of hereditary angioedema with danazol. Reversal of clinical and biochemical abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F08830189309051168

10.3109/08830189309051168

21 January 2018

Identifiers

DOI

1 reference

24 September 2017

1 reference

PubMed ID

8340674