Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Three novel PROC gene lesions causing protein C deficiency

P J Hallam1, P Mannucci, A Tripodi

  • 1Molecular Haematology Unit, St Bartholomew's and the Royal London School of Medicine and Dentistry, UK.

Clinical Genetics
|October 27, 1998
PubMed
Summary

Novel missense mutations in the protein C (PROC) gene were identified in patients with inherited protein C deficiency and venous thrombosis. These genetic alterations may impact protein C structure, function, or secretion.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Preprocedural prophylaxis with blood products in patients with cirrhosis: Results from a survey of the Italian Association for the Study of the Liver (AISF).

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·2022
Same author

Implementing pre-procedural thrombopoietin receptor agonists in cirrhotic patients with severe thrombocytopenia: Indiscriminate, selective or unneeded?

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·2021
Same author

Thrombopoietin receptor agonists before elective invasive procedures in cirrhotic patients with thrombocytopenia: ready to start?

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·2021
Same author

Evaluation of procoagulant imbalance in Cushing's syndrome after short- and long-term remission of disease.

Journal of endocrinological investigation·2021
Same author

Low drug levels and thrombotic complications in high-risk atrial fibrillation patients treated with direct oral anticoagulants.

Journal of thrombosis and haemostasis : JTH·2018
Same author

Interlaboratory variability in the measurement of direct oral anticoagulants: results from the external quality assessment scheme.

Journal of thrombosis and haemostasis : JTH·2018

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • Inherited protein C deficiency is a risk factor for venous thromboembolism.
  • Understanding the molecular basis of protein C deficiency is crucial for patient management.

Purpose of the Study:

  • To identify and characterize novel mutations in the protein C (PROC) gene in patients with inherited protein C deficiency.
  • To elucidate the potential impact of identified mutations on protein C function and structure.

Main Methods:

  • Genetic sequencing of the PROC gene in patients with venous thrombosis.
  • Phenotypic analysis of identified mutations.
  • Comparison with analogous mutations in factor IX.
  • Molecular modeling studies.

Related Experiment Videos

Main Results:

  • Seven patients with inherited protein C deficiency and venous thrombosis were identified.
  • Three novel missense mutations (Asn210-->Val, Asn248-->Ile, Ala355-->Val) were found in the PROC gene.
  • Molecular modeling and comparison with factor IX mutations provided insights into the functional consequences of these PROC mutations.

Conclusions:

  • Identified PROC gene mutations contribute to inherited protein C deficiency and are associated with venous thrombosis.
  • The structural and functional impact of these mutations can be inferred through molecular modeling and comparative analysis.
  • Further research can explore therapeutic strategies targeting protein C function.