Thrombomodulin mutations in atypical hemolytic-uremic syndrome (Q33385474)

26 July 2017

title

Thrombomodulin mutations in atypical hemolytic-uremic syndrome (English)

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hemolytic-uremic syndrome

26 July 2017

main subject

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Stephane Plaisance

8

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Edward M. Conway

object named as

Edward M Conway

13

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Giuseppe Remuzzi

object named as

Giuseppe Remuzzi

12

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Diether Lambrechts

10

object named as

Diether Lambrechts

1 reference

26 July 2017

Mieke Delvaeye

1

1 reference

26 July 2017

Marina Noris

2

1 reference

26 July 2017

Astrid De Vriese

3

1 reference

26 July 2017

Charles T Esmon

4

1 reference

26 July 2017

Naomi L Esmon

5

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26 July 2017

Gary Ferrell

6

1 reference

26 July 2017

Jurgen Del-Favero

7

1 reference

26 July 2017

Bart Claes

9

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26 July 2017

Carla Zoja

11

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26 July 2017

language of work or name

English

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publication date

1 July 2009

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The New England Journal of Medicine

26 July 2017

published in

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26 July 2017

volume

361

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26 July 2017

issue

4

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26 July 2017

page(s)

345-357

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Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

26 July 2017

cites work

1 reference

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A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity

21 June 2018

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Pathogenesis of thrombotic microangiopathies

21 June 2018

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Biochemical importance of glycosylation in thrombin activatable fibrinolysis inhibitor

21 June 2018

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Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency

21 June 2018

1 reference

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Where next with atypical hemolytic uremic syndrome?

21 June 2018

1 reference

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Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome

21 June 2018

1 reference

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Discovery and identification of sequence polymorphisms and mutations with MALDI-TOF MS.

21 June 2018

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Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

21 June 2018

1 reference

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Association of genotypes of thrombin-activatable fibrinolysis inhibitors with thrombotic microangiopathies--a pilot study

21 June 2018

1 reference

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Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

21 June 2018

1 reference

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Thrombin-activatable procarboxypeptidase B regulates activated complement C5a in vivo

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Modeling how CD46 deficiency predisposes to atypical hemolytic uremic syndrome

21 June 2018

1 reference

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Hemolytic uremic syndrome: an emerging health risk.

21 June 2018

1 reference

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Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome

21 June 2018

1 reference

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Atypical haemolytic uraemic syndrome

21 June 2018

1 reference

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Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

21 June 2018

1 reference

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The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

21 June 2018

1 reference

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Acute renal failure - definition, outcome measures, animal models, fluid therapy and information technology needs: the Second International Consensus Conference of the Acute Dialysis Quality Initiative (ADQI) Group

21 June 2018

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Thrombomodulin-protein C-EPCR system: integrated to regulate coagulation and inflammation

21 June 2018

1 reference

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Non-enteropathic hemolytic uremic syndrome: causes and short-term course.

21 June 2018

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21 June 2018

1 reference

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Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

The lectin-like domain of thrombomodulin confers protection from neutrophil-mediated tissue damage by suppressing adhesion molecule expression via nuclear factor kappaB and mitogen-activated protein kinase pathways

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Role of membrane cofactor protein (CD46) in regulation of C4b and C3b deposited on cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function

21 June 2018

1 reference

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Inactivation of C3a and C5a octapeptides by carboxypeptidase R and carboxypeptidase N.

21 June 2018

1 reference

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Verotoxin-1-induced up-regulation of adhesive molecules renders microvascular endothelial cells thrombogenic at high shear stress

21 June 2018

1 reference

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Efficacy and safety of recombinant human activated protein C for severe sepsis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

A targeted point mutation in thrombomodulin generates viable mice with a prethrombotic state

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Identification of the predominant glycosaminoglycan-attachment site in soluble recombinant human thrombomodulin: potential regulation of functionality by glycosyltransferase competition for serine474

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Studies on the inflammatory-coagulant axis in the baboon response to E. coli: regulatory roles of proteins C, S, C4bBP and of inhibitors of tissue factor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Purification and characterization of TAFI, a thrombin-activable fibrinolysis inhibitor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

The lectin-like domain of thrombomodulin interferes with complement activation and protects against arthritis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Hemolytic Uremic Syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Thrombin Activatable Fibrinolysis Inhibitor, a Potential Regulator of Vascular Inflammation

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Thrombotic Microangiopathies

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Thrombomodulin Ala455Val polymorphism and risk of coronary heart disease

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Dysfunction of Endothelial Protein C Activation in Severe Meningococcal Sepsis

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530919

Characterization of a mouse model for thrombomodulin deficiency

31 October 2018

1 reference

12 December 2020

Membrane cofactor protein (MCP; CD46). Isoforms differ in protection against the classical pathway of complement

1 reference

12 December 2020

A novel thrombomodulin gene mutation in a patient suffering from sagittal sinus thrombosis

1 reference

12 December 2020

Effects of viral activation of the vessel wall on inflammation and thrombosis

1 reference

12 December 2020

Thrombomodulin gene defects in families with thromboembolic disease--a report on four families

1 reference

12 December 2020

Thrombomodulin gene polymorphisms or haplotypes as potential risk factors for venous thromboembolism: a population-based case-control study

1 reference

12 December 2020

Do-all receptor takes on coagulation, inflammation

1 reference

12 December 2020

Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction

1 reference

12 December 2020

Generation of C5a in the absence of C3: a new complement activation pathway

1 reference

12 December 2020

Efficacy and safety of recombinant human soluble thrombomodulin (ART-123) in disseminated intravascular coagulation: results of a phase III, randomized, double-blind clinical trial

1 reference

12 December 2020

The lectin-like domain of thrombomodulin protects against ischaemia-reperfusion lung injury

1 reference

12 December 2020

Identifiers

DOI

10.1056/NEJMOA0810739

1 reference

release_y6erc75jgnaancrleyvdf75nry

26 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/y6erc75jgnaancrleyvdf75nry

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3530919

1 reference

26 July 2017

1 reference