(Q34386422)

1 August 2017

title

An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency (English)

1 reference

1 August 2017

0 references

1 reference

S J Hasstedt

1

1 reference

1 August 2017

E G Bovill

series ordinal

2

1 reference

1 August 2017

P W Callas

series ordinal

3

1 reference

1 August 2017

G L Long

series ordinal

4

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 August 1998

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

63

1 reference

1 August 2017

issue

2

1 reference

1 August 2017

page(s)

569-576

1 reference

Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Inherited thrombotic disorders: an update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Protein C deficiency: summary of the 1995 database update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Inherited predisposition to thrombosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: application to nonobese diabetic (NOD) mouse and human insulin-dependent diabetes mellitus (IDDM)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Variance components/major locus likelihood approximation for quantitative, polychotomous, and multivariate data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Prevalence of protein C deficiency in the healthy population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Deficiency of protein C in congenital thrombotic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

A unified model for complex segregation analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Severe inherited "homozygous" protein C deficiency in a newborn infant

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Congenital protein C deficiency and thrombotic disease in nine French families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

A General Model for the Genetic Analysis of Pedigree Data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Analysis of family resemblance. 3. Complex segregation of quantitative traits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Neonatal purpura fulminans: a genetic disorder related to the absence of protein C in blood.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Absence of thrombosis in subjects with heterozygous protein C deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Evolution and organization of the human protein C gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Association of inherited dysfibrinogenaemia and protein C deficiency in two unrelated families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

The nucleotide sequence of the gene for human protein C

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

The clinical spectrum of heterozygous protein C deficiency in a large New England kindred

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

A population-based perspective of the hospital incidence and case-fatality rates of deep vein thrombosis and pulmonary embolism. The Worcester DVT Study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Pregnancy loss and thrombosis with protein C deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Multifactorial Genetic Models for Quantitative Traits in Humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Gesellschaft fur Thrombose- und Hamostaseforschung (GTH) Study Group on Natural Inhibitors.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study)

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377289

Molecular events that control the protein C anticoagulant pathway

27 October 2018

1 reference

12 December 2020

Increased thrombosis incidence in a family with an inherited protein S deficiency and a high oxygen affinity hemoglobin variant

1 reference

12 December 2020

Inherited resistance to activated protein C, a major cause of venous thrombosis, is due to a mutation in the factor V gene

1 reference

12 December 2020

Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM

1 reference

12 December 2020

Factor V Leiden: an additional risk factor for thrombosis in protein S deficient families?

1 reference

12 December 2020

Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease

1 reference

12 December 2020

Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency

1 reference

12 December 2020

Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden

1 reference

12 December 2020

Plasminogen deficiency: an additional risk factor for thrombosis in a family with factor V R506Q mutation?

1 reference

12 December 2020

Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group

1 reference

12 December 2020

Low thrombosis rate seen in blood donors and their relatives with inherited deficiencies of antithrombin and protein C: correlation with type of defect, family history, and absence of the factor V Leiden mutation

1 reference

12 December 2020

Thrombophilia as a multigenic disorder

1 reference

12 December 2020

Congenital protein C deficiency and venous thromboembolism. A study of three Dutch families

1 reference

12 December 2020

Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant

1 reference

12 December 2020

Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn

1 reference

12 December 2020

Assignment of the human protein C gene (PROC) to chromosome region 2q14→q21 by in situ hybridization

1 reference

12 December 2020

The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis

1 reference

12 December 2020

Report on the diagnosis and treatment of homozygous protein C deficiency. Report of the Working Party on Homozygous Protein C Deficiency of the ICTH-Subcommittee on Protein C and Protein S

1 reference

12 December 2020

Identifiers

DOI

10.1086/301947

1 reference

1 August 2017

1 reference

1 August 2017

1 reference