(Q33386745)

26 July 2017

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title

ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura (English)

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thrombotic thrombocytopenic purpura

26 July 2017

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Luca A Lotta

1

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Roberta Palla

object named as

Roberta Palla

3

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Flora Peyvandi

object named as

Flora Peyvandi

5

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author name string

Isabella Garagiola

2

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PubMed ID

19847791

26 July 2017

Andrea Cairo

4

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26 July 2017

1 January 2010

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26 July 2017

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26 July 2017

31

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26 July 2017

1

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26 July 2017

11-19

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The proximal carboxyl-terminal domains of ADAMTS13 determine substrate specificity and are all required for cleavage of von Willebrand factor.

26 July 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

ADAMTS 13 genotype and vWF protease activity in an Italian family with TTP.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Essential role of the disintegrin-like domain in ADAMTS13 function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Structural and functional correlation of ADAMTS13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

ADAMTS-13 rapidly cleaves newly secreted ultralarge von Willebrand factor multimers on the endothelial surface under flowing conditions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome: the role of von Willebrand factor-cleaving protease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Clinical practice. Thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Treatment of von Willebrand's Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Thrombotic Microangiopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Shigatoxin triggers thrombotic thrombocytopenic purpura in genetically susceptible ADAMTS13-deficient mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

A common origin of the 4143insA ADAMTS13 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Regional UK TTP registry: correlation with laboratory ADAMTS 13 analysis and clinical features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Dissociation between the level of von Willebrand factor-cleaving protease activity and disease in a patient with congenital thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Fatal congenital thrombotic thrombocytopenic purpura with apparent ADAMTS13 inhibitor: in vitro inhibition of ADAMTS13 activity by hemoglobin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Recombinant CUB-1 domain polypeptide inhibits the cleavage of ULVWF strings by ADAMTS13 under flow conditions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

The incidence of thrombotic thrombocytopenic purpura-hemolytic uremic syndrome: all patients, idiopathic patients, and patients with severe ADAMTS-13 deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

The cooperative activity between the carboxyl-terminal TSP1 repeats and the CUB domains of ADAMTS13 is crucial for recognition of von Willebrand factor under flow

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Effects of naturally occurring mutations in CUB-1 domain on synthesis, stability, and activity of ADAMTS-13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21143

7 January 2021

Identifiers

DOI

10.1002/HUMU.21143

1 reference

26 July 2017

1 reference

PubMed ID

19847791