Pleiotropic effects of antithrombin strand 1C substitution mutations (Q24564590)

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29 September 2022

R. J. Olds

2

1 reference

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29 September 2022

J. Conard

3

1 reference

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29 September 2022

M. Boisclair

4

1 reference

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29 September 2022

S. C. Bock

5

1 reference

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29 September 2022

M. Hultin

6

1 reference

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29 September 2022

U. Abildgaard

7

1 reference

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29 September 2022

H. Ireland

8

1 reference

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29 September 2022

E. Thompson

9

1 reference

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29 September 2022

G. Sas

10

1 reference

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full work available at URL

29 September 2022

language of work or name

English

0 references

publication date

December 1992

0 references

https://europepmc.org/articles/PMC443398

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1469094

https://europepmc.org/articles/PMC443398?pdf=render

29 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1469094

Journal of Clinical Investigation

29 September 2022

published in

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volume

90

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issue

6

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page(s)

2422-33

0 references

cites work

Crystal structure of uncleaved ovalbumin at 1.95 A resolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Hereditary antithrombin III deficiency: biochemical aspects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Characterization of an unusual DNA length polymorphism 5' to the human antithrombin III gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Physiological variant of antithrombin-III lacks carbohydrate sidechain at Asn 135.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Proposed heparin binding site in antithrombin based on arginine 47. A new variant Rouen-II, 47 Arg to Ser

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

New carbohydrate site in mutant antithrombin (7 Ile----Asn) with decreased heparin affinity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Molecular characterization of antithrombin III (ATIII) variants using polymerase chain reaction. Identification of the ATIII Charleville as an Ala 384 Pro mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

A novel amino acid substitution in the reactive site of a congenital variant antithrombin. Antithrombin pescara, ARG393 to pro, caused by a CGT to CCT mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Implications of the three-dimensional structure of alpha 1-antitrypsin for structure and function of serpins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin: structure, genomic organization, function and inherited deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin III Milano 2: a single base substitution in the thrombin binding domain detected with PCR and direct genomic sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

DdeI polymorphism in intron 5 of the ATIII gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Congenital antititrombin III deficiency (AT-III Kyoto) : Identification of a point mutation altering arginine-406 to methionine behind the reactive site

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Plasma and serum antithrombin - III: Differentiation by crossed immunoelectrophoresis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

The Purification and Mechanism of Action of Human Antithrombin-Heparin Cofactor

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin-III Denver, a reactive site variant

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Heparin binding defect in a new antithrombin III variant: Rouen, 47 Arg to His.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Alpha 2-antiplasmin Enschede is not an inhibitor, but a substrate, of plasmin

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin Glasgow II: alanine 382 to threonine mutation in the serpin P12 position, resulting in a substrate reaction with thrombin

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Novel point mutations leading to type 1 antithrombin deficiency and thrombosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Secretion of alpha-1-proteinase inhibitor requires an almost full length molecule

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

The SEC receptor recognizes a pentapeptide neodomain of alpha 1-antitrypsin-protease complexes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin Oslo: type Ib classification of the first reported antithrombin-deficient family, with a review of hereditary antithrombin variants

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Heterogeneity of the "classical" antithrombin III deficiency.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Antithrombin Vicenza, Ala 384 to Pro (GCA to CCA) mutation, transforming the inhibitor into a substrate

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443398

Molecular Heterogeneity of Inherited Antithrombin III Deficiency

28 November 2018

1 reference

12 December 2020

Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.

1 reference

12 December 2020

Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity

1 reference

12 December 2020

Antithrombin Milano, single amino acid substitution at the reactive site, Arg393 to Cys

1 reference

12 December 2020

Antithrombin III Northwick Park: demonstration of an inactive high MW complex with increased affinity for heparin

1 reference

12 December 2020

Isolation and characterization of an antithrombin III variant with reduced carbohydrate content and enhanced heparin binding

1 reference

12 December 2020

The heparin-binding site of antithrombin III. Identification of a critical tryptophan in the amino acid sequence

1 reference

12 December 2020

On the presence of neutral fats in normal and pathological human thrombocytes

1 reference

12 December 2020

Antithrombin III Budapest: a single amino acid substitution (429Pro to Leu) in a region highly conserved in the serpin family

1 reference

12 December 2020

Antithrombin III: a database of mutations

1 reference

12 December 2020

Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins

1 reference

12 December 2020

Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site

1 reference

12 December 2020

Antithrombin-III-Hamilton, Ala 382 to Thr: an antithrombin-III variant that acts as a substrate but not an inhibitor of alpha-thrombin and factor Xa

1 reference

12 December 2020

Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine

1 reference

12 December 2020

Antithrombin Padua. I: Impaired heparin binding caused by an Arg47 to his (CGT to CAT) substitution

1 reference

12 December 2020

Binding of heparin to human antithrombin III activates selective chemical modification at lysine 236. Lys-107, Lys-125, and Lys-136 are situated within the heparin-binding site of antithrombin III

1 reference

12 December 2020

Antithrombin Sheffield: amino acid substitution at the reactive site (Arg393 to His) causing thrombosis

1 reference

12 December 2020

Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow

1 reference

12 December 2020

Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: review of 404 cases

1 reference

12 December 2020

A simple and rapid method of direct sequencing using Dynabeads

1 reference

12 December 2020

A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis

1 reference

12 December 2020

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

12 December 2020

Evidence that arginine-129 and arginine-145 are located within the heparin binding site of human antithrombin III

1 reference

12 December 2020

Immunoadsorbent purification of antithrombin: active form and inactive variants

1 reference

12 December 2020

Antithrombin Chicago, amino acid substitution of arginine 393 to histidine

1 reference

12 December 2020

Antithrombin III alger: A new case of Arg 47 ← cys mutation

1 reference

12 December 2020

Formation of a covalent disulfide-linked antithrombin-albumin complex by an antithrombin variant, antithrombin "Northwick Park"

1 reference

12 December 2020

Antithrombin III Glasgow: a variant with increased heparin affinity and reduced ability to inactivate thrombin, associated with familial thrombosis

1 reference

12 December 2020

Comparison of progressive antithrombin activity and the concentration of three thrombin inhibitors in human plasma

1 reference

12 December 2020

Binding of thrombin to antithrombin III

1 reference

12 December 2020

Characterization of a panel of highly variable minisatellites cloned from human DNA

1 reference

12 December 2020