An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency (Q34386422)

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Language	Label	Description	Also known as
English	An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

0 references

protein C deficiency

1 reference

based on heuristic

inferred from title

author name string

S J Hasstedt

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

E G Bovill

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

P W Callas

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

G L Long

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

language of work or name

0 references

publication date

1 August 1998

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

63

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

569-576

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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 reference

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

6 July 2018

Inherited thrombotic disorders: an update

1 reference

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

6 July 2018

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.

1 reference

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

6 July 2018

Protein C deficiency: summary of the 1995 database update

1 reference

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

6 July 2018

Inherited predisposition to thrombosis

1 reference

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

6 July 2018

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

1 reference

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

6 July 2018

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)

1 reference

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

6 July 2018

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

1 reference

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

6 July 2018

Prevalence of protein C deficiency in the healthy population

1 reference

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

6 July 2018

Deficiency of protein C in congenital thrombotic disease

1 reference

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

6 July 2018

A unified model for complex segregation analysis

1 reference

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

6 July 2018

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

1 reference

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

6 July 2018

Congenital protein C deficiency and thrombotic disease in nine French families

1 reference

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

6 July 2018

A General Model for the Genetic Analysis of Pedigree Data

1 reference

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

6 July 2018

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

1 reference

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

6 July 2018

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

1 reference

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

6 July 2018

Absence of thrombosis in subjects with heterozygous protein C deficiency

1 reference

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

6 July 2018

Evolution and organization of the human protein C gene

1 reference

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

6 July 2018

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

1 reference

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

6 July 2018

The nucleotide sequence of the gene for human protein C

1 reference

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

6 July 2018

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

1 reference

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

6 July 2018

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

1 reference

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

6 July 2018

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

1 reference

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

6 July 2018

Pregnancy loss and thrombosis with protein C deficiency

1 reference

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

6 July 2018

Multifactorial Genetic Models for Quantitative Traits in Humans

1 reference

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

6 July 2018

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.

1 reference

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

27 October 2018

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.

1 reference

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

27 October 2018

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

1 reference

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

27 October 2018

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

1 reference

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

27 October 2018

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

1 reference

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

27 October 2018

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

1 reference

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

27 October 2018

Molecular events that control the protein C anticoagulant pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thrombophilia as a multigenic disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9683579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

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Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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