Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura (Q33405479)

26 July 2017

title

Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura (English)

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thrombotic thrombocytopenic purpura

26 July 2017

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Chava Kimchi-Sarfaty

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Zachary A Hing

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26 July 2017

Tal Schiller

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26 July 2017

Andrew Wu

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26 July 2017

Nobuko Hamasaki-Katagiri

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26 July 2017

Evi Budo Struble

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26 July 2017

Estelle Russek-Cohen

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26 July 2017

language of work or name

English

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publication date

24 January 2013

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British Journal of Haematology

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published in

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26 July 2017

volume

160

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26 July 2017

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26 July 2017

page(s)

825-837

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Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor

26 July 2017

cites work

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A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom

21 January 2018

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Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches

21 January 2018

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Regulation of Alzheimer's disease amyloid-beta formation by casein kinase I

21 January 2018

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Natural history of Upshaw–Schulman syndrome based on ADAMTS13 gene analysis in Japan

21 January 2018

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Analysis of F9 point mutations and their correlation to severity of haemophilia B disease

21 January 2018

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Structure of a protein in a kinetic trap

21 January 2018

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Detection of a secreted metalloprotease within the nuclei of liver cells

21 January 2018

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Spectrum of disease-causing mutations in protein secondary structures

21 January 2018

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ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures

21 January 2018

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Learning a prior on regulatory potential from eQTL data

21 January 2018

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

21 January 2018

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ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura

21 January 2018

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Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura

21 January 2018

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Drop of residual plasmatic activity of ADAMTS13 to undetectable levels during acute disease in a patient with adult-onset congenital thrombotic thrombocytopenic purpura

21 January 2018

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Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

21 January 2018

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Codon usage tabulated from international DNA sequence databases: status for the year 2000

21 January 2018

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Tissue-specific codon usage and the expression of human genes

21 January 2018

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Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations

21 January 2018

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Relating the disease mutation spectrum to the evolution of the cystic fibrosis transmembrane conductance regulator (CFTR)

21 January 2018

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Major kinetic traps for the oxidative folding of leech carboxypeptidase inhibitor

21 January 2018

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Understanding the contribution of synonymous mutations to human disease

21 January 2018

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

21 January 2018

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Codon usage in yeast: cluster analysis clearly differentiates highly and lowly expressed genes

21 January 2018

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The HHpred interactive server for protein homology detection and structure prediction

21 January 2018

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A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease?

21 January 2018

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Human endothelial cells synthesize and release ADAMTS-13.

21 January 2018

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Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk

21 January 2018

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

21 January 2018

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Analysis of synonymous codon usage in foot-and-mouth disease virus

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/BJH.12214

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26 July 2017

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