(Q41010300)

English

Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

scientific article published on March 1995

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

R Zahedi

1

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27 October 2019

A E Davis

3

1 reference

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27 October 2019

C Andreadis

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

J J Wisnieski

5

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27 October 2019

language of work or name

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publication date

1 March 1995

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27 October 2019

Journal of Clinical Investigation

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

95

1 reference

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27 October 2019

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1299-1305

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

A hinge region mutation in C1-inhibitor (Ala436-->Thr) results in nonsubstrate-like behavior and in polymerization of the molecule.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

Inherited incomplete deficiency of the fourth component of complement (C4) determined by a gene not linked to human histocompatibility leukocyte antigens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

Recombinant alpha 1-antitrypsin Pittsburgh (Met 358----Arg) is a potent inhibitor of plasma kallikrein and activated factor XII fragment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

C1 inhibitor and hereditary angioneurotic edema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

CpG mutations in the reactive site of human C1 inhibitor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

Structure and function of C1r and C1s: current concepts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

Combinatorial mutagenesis of the reactive site region in plasminogen activator inhibitor I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

C1 inhibitor hinge region mutations produce dysfunction by different mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

26 September 2017

Primary structure of the reactive site of human C1-inhibitor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

15 June 2018

Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

15 June 2018

The structural basis for neutrophil inactivation of C1 inhibitor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

15 June 2018

Ovalbumin and angiotensinogen lack serpin S-R conformational change

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

15 June 2018

Characterization of recombinant C1 inhibitor P1 variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

15 June 2018

Kinetics of reaction of human C-inhibitor with the human complement system proteases Cr and Cs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

19 August 2018

Rapid and sensitive techniques for identification and analysis of 'reactive-centre' mutants of C1-inhibitor proteins contained in type II hereditary angio-oedema plasmas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441469

19 August 2018

Interactions of plasma kallikrein and C1-s with normal and dysfunctional C1(-)-inhibitor proteins from patients with hereditary angioneurotic edema: analytic gel studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883978

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolism of C4 and linkage analysis in a kindred with hereditary incomplete C4 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883978

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of functional human C1 inhibitor in COS cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883978

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma kinetics of complement component C4: comparison of three models

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883978

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reactivity of alpha 1-antitrypsin mutants against proteolytic enzymes of the kallikrein-kinin, complement, and fibrinolytic systems

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883978

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Substrate properties of C1 inhibitor Ma (alanine 434----glutamic acid). Genetic and structural evidence suggesting that the P12-region contains critical determinants of serine protease inhibitor/substrate status

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883978

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unique C1 inhibitor dysfunction in a kindred without angioedema. I. A mutant C1 INH that inhibits C1-s but not C1-r

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883978

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping the substrate binding site of human C1r and C1s with peptide thioesters. Development of new sensitive substrates

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883978

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI117780

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883978%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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