Molecular genetics of antithrombin deficiency (Q34397994)

1 August 2017

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title

Molecular genetics of antithrombin deficiency (English)

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1 August 2017

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Lane DA

1

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1 August 2017

Kunz G

series ordinal

2

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1 August 2017

Olds RJ

series ordinal

3

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1 August 2017

Thein SL

series ordinal

4

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1 August 2017

publication date

1 June 1996

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1 August 2017

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1 August 2017

volume

10

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1 August 2017

issue

2

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1 August 2017

page(s)

59-74

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Cloning and expression of the cDNA for human antithrom, bin III

1 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Partial glycosylation of antithrombin III asparagine-135 is caused by the serine in the third position of its N-glycosylation consensus sequence and is responsible for production of the beta-antithrombin III isoform with enhanced heparin affinity

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Sequence characterization of a sheep cDNA for antithrombin III

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

The complete amino acid sequence of bovine antithrombin (ATIII).

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

The site in human antithrombin for functional proteolytic cleavage by human thrombin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Carboxy terminal fragment of human α-1-antitrypsin from hydroxylamine clevage: Homology with antithrombin III

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

A surprising new protein superfamily containing ovalbumin, antithrombin-III, and alpha 1-proteinase inhibitor

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Human alpha 1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Antithrombin III: structural and functional aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Crystal structure of cleaved bovine antithrombin III at 3.2 A resolution

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

The intact and cleaved human antithrombin III complex as a model for serpin–proteinase interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Biological implications of a 3 A structure of dimeric antithrombin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Crystal structure of ovalbumin as a model for the reactive centre of serpins

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Structural basis of latency in plasminogen activator inhibitor-1

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Crystal structure of uncleaved ovalbumin at 1.95 A resolution

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Crystal structure of plakalbumin, a proteolytically nicked form of ovalbumin. Its relationship to the structure of cleaved alpha-1-proteinase inhibitor

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Serpin tertiary structure transformation

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Mobile reactive centre of serpins and the control of thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Anticoagulant activities of heparin oligosaccharides and their neutralization by platelet factor 4

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Transmission of conformational change from the heparin binding site to the reactive center of antithrombin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Conformational change in antithrombin induced by heparin probed with a monoclonal antibody against the 1C/4B region

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Anticoagulant activity of heparin: Separation of high‐activity and low‐activity heparin species by affinity chromatography on immobilized antithrombin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

The separation of active and inactive forms of heparin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

The structure of heparin oligosaccharide fragments with high anti-(factor Xa) activity containing the minimal antithrombin III-binding sequence Chemical and13C nuclear-magnetic-resonance studies

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Further characterization of the antithrombin-binding sequence in heparin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Structure-activity relationship in heparin: a synthetic pentasaccharide with high affinity for antithrombin III and eliciting high anti-factor Xa activity

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

The binding of low-affinity and high-affinity heparin to antithrombin. Fluorescence studies

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Probing the heparin-binding domain of human antithrombin III with V8 protease

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Heparin binding domain of antithrombin III: characterization using a synthetic peptide directed polyclonal antibody.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Lysine-heparin interactions in antithrombin. Properties of K125M and K290M,K294M,K297M variants

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Carbohydrate isoforms of antithrombin variant N135Q with different heparin affinities

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Pleiotropic effects of antithrombin strand 1C substitution mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Antithrombin and its deficiency states

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Actions and Interactions of Antithrombin and Heparin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Congenital antithrombin III deficiency. Incidence and clinical features

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

The incidence of dysfunctional antithrombin variants: four cases in 210 patients with thromboembolic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Thrombosis in antithrombin-III-deficient persons. Report of a large kindred and literature review

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Deficiency of plasma protein S, protein C, or antithrombin III and arterial thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Mortality in hereditary antithrombin-III deficiency--1830 to 1989.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Mutation in blood coagulation factor V associated with resistance to activated protein C.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Confirmation of linkage between antithrombin III and Duffy blood group and assignment of AT3 to 1q22 lead to q25

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Linkage relationships of dominant antithrombin III deficiency and the heterochromatic region of chromosome 1

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Linkage study of antithrombin III

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Assignment of the human antithrombin III structural gene to chromosome 1q23-25

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Relationship between an enhancer element in the human antithrombin III gene and an immunoglobulin light-chain gene enhancer

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Different liver nuclear proteins binds to similar DNA sequences in the 5' flanking regions of three hepatic genes

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Molecular Heterogeneity of Inherited Antithrombin III Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

A NheI RFLP in the human antithrombin III gene (1q23-q25) (AT3)

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

DdeI polymorphism in intron 5 of the ATIII gene

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

A common point mutation producing type 1a antithrombin iii deficiency: AT129 CGA to TGA (ARG to STOP)

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Antithrombin Chicago, amino acid substitution of arginine 393 to histidine

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Heparin binding affinity of normal and genetically modified antithrombin III measured using a monoclonal antibody to the heparin binding site of antithrombin III

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

C1 inhibitor hinge region mutations produce dysfunction by different mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Antithrombins Southport (Leu 99 to Val) and Vienna (Gln 118 to Pro): two novel antithrombin variants with abnormal heparin binding

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Analysis of the plasma elimination kinetics and conformational stabilities of native, proteinase-complexed, and reactive site cleaved serpins: comparison of alpha 1-proteinase inhibitor, alpha 1-antichymotrypsin, antithrombin III, alpha 2-antiplasmi

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Novel point mutations leading to type 1 antithrombin deficiency and thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

A novel missense mutation in the antithrombin III gene (Ser349----Pro) causing recurrent venous thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

A novel missense mutation in the antithrombin III gene (Ala387?Val) causing recurrent venous thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990034-X

7 January 2021

10.1016/S0268-960X(96)90034-X

Identifiers

DOI

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1 August 2017

1 reference