(Q58607420)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30398465%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

title

Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30398465%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

main subject

hereditary angioedema

1 reference

5

1 reference

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2 May 2020

Tue Fryland

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30398465%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Anette Bygum

12

1 reference

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2 May 2020

Lene N Nejsum

13

1 reference

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2 May 2020

Martin K Thomsen

9

1 reference

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2 May 2020

Thomas Juhl Corydon

11

1 reference

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2 May 2020

Jacob Giehm Mikkelsen

14

1 reference

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2 May 2020

author name string

Didde Haslund

1

1 reference

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2 May 2020

Laura Barrett Ryø

2

1 reference

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2 May 2020

Sara Seidelin Majidi

3

1 reference

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2 May 2020

Anja Bille Bohn

7

1 reference

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2 May 2020

Claus Koch

8

1 reference

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2 May 2020

Yaseelan Palarasah

10

1 reference

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2 May 2020

Iben Rose

4

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2 May 2020

language of work or name

English

0 references

publication date

10 December 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30398465%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

2 May 2020

published in

1 reference

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2 May 2020

volume

129

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2 May 2020

issue

1

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2 May 2020

page(s)

388-405

1 reference

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The mechanism of Z alpha 1-antitrypsin accumulation in the liver

2 May 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

On the size of the active site in proteases. I. Papain

1 reference

12 December 2020

Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function

1 reference

12 December 2020

Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema

1 reference

12 December 2020

Impaired production of both normal and mutant C1 inhibitor proteins in type I hereditary angioedema with a duplication in exon 8.

1 reference

12 December 2020

Plasma bradykinin in angio-oedema.

1 reference

12 December 2020

Regulation of C1 inhibitor synthesis

1 reference

12 December 2020

Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis.

1 reference

12 December 2020

Familial dementia caused by polymerization of mutant neuroserpin

1 reference

12 December 2020

Structure of a serpin-protease complex shows inhibition by deformation

1 reference

12 December 2020

Phylogeny of the serpin superfamily: implications of patterns of amino acid conservation for structure and function.

1 reference

12 December 2020

Biochemical characterization of a neuroserpin variant associated with hereditary dementia

1 reference

12 December 2020

The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature

1 reference

12 December 2020

Alpha1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy

1 reference

12 December 2020

Serpin structure, mechanism, and function

1 reference

12 December 2020

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

1 reference

12 December 2020

HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS.

1 reference

12 December 2020

Mutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulum

1 reference

12 December 2020

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

1 reference

12 December 2020

Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor

1 reference

12 December 2020

An overview of the serpin superfamily

1 reference

12 December 2020

Cellular image analysis and imaging by flow cytometry

1 reference

12 December 2020

C1 inhibitor: just a serine protease inhibitor? New and old considerations on therapeutic applications of C1 inhibitor

1 reference

12 December 2020

The structural basis of serpin polymerization studied by hydrogen/deuterium exchange and mass spectrometry

1 reference

12 December 2020

Hereditary angio-oedema in Denmark: a nationwide survey

1 reference

12 December 2020

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

1 reference

12 December 2020

Highly efficient generation of human hepatocyte-like cells from induced pluripotent stem cells

1 reference

12 December 2020

Landmark publication from The American Journal of the Medical Sciences: Hereditary angio-neurotic oedema. 1888.

1 reference

12 December 2020

The plasma bradykinin-forming pathways and its interrelationships with complement

1 reference

12 December 2020

Efficacy of gene therapy for X-linked severe combined immunodeficiency

1 reference

12 December 2020

Adenovirus-associated virus vector-mediated gene transfer in hemophilia B

1 reference

12 December 2020

Serpin Inhibition Mechanism: A Delicate Balance between Native Metastable State and Polymerization.

1 reference

12 December 2020

Development of transgenic cloned pig models of skin inflammation by DNA transposon-directed ectopic expression of human β1 and α2 integrin

1 reference

12 December 2020

HAE update: epidemiology and burden of disease

1 reference

12 December 2020

Update of the human and mouse SERPIN gene superfamily

1 reference

12 December 2020

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

1 reference

12 December 2020

Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema

1 reference

12 December 2020

Prediction of interindividual differences in hepatic functions and drug sensitivity by using human iPS-derived hepatocytes.

1 reference

12 December 2020

Structural insights into the unique inhibitory mechanism of the silkworm protease inhibitor serpin18.

1 reference

12 December 2020

Genetics of Hereditary Angioedema Revisited

1 reference

12 December 2020

HAE Pathophysiology and Underlying Mechanisms.

1 reference

12 December 2020

Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.

1 reference

12 December 2020

Hereditary angioedema with a mutation in the plasminogen gene.

1 reference

12 December 2020

Gene Therapy for C1 Esterase Inhibitor Deficiency in a Murine Model of Hereditary Angioedema

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI98869

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30398465%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

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2 May 2020

PubMed publication ID

30398465

1 reference