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932 results on '"Protein C genetics"'

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1. A novel factor V compound heterozygous mutation associated with thrombosis (Y1961C; FV-Kanazawa, together with 1982_1983del).

2. A Novel Murine Model Enabling rAAV8-PC Gene Therapy for Severe Protein C Deficiency.

3. Met343Val mutation disrupts the shuttling of Trp380 leading to a low-activity conformer of activated protein C and causes thrombosis.

4. Mutation Ter462GlnextTer17 introduces a tail to C-terminus of protein C and causes venous thrombosis.

5. Protein C Pretreatment Protects Endothelial Cells from SARS-CoV-2-Induced Activation.

6. Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism.

7. Ser252Asn Mutation Introduces a New N-Linked Glycosylation Site and Causes Type IIb Protein C Deficiency.

8. Validation for the function of protein C in mouse models.

9. The clinical and genetic landscape of early-onset thrombophilia in Japan.

10. Single-Cell RNA-seq reveals transcriptomic modulation of Alzheimer's disease by activated protein C.

11. Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.

12. Evaluation of acquired and hereditary risk factors for the development of thromboembolism in patients with systemic lupus erythematosus.

13. Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C.

14. Interstitial Lung Disease in Adulthood Associated with Surfactant Protein C Gene Mutation in a Patient with a History of Lipoid Pneumonia in Infancy.

15. Laboratory Evaluation of Antithrombin, Protein C, and Protein S.

16. Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels.

18. Severe Neonatal Interstitial Lung Disease Caused by a Rare Surfactant Protein C Mutation.

19. A missense mutation in lectin domain of thrombomodulin causing functional deficiency.

20. Evaluation of Activated Protein C Resistance Using Thrombin Generation Test.

21. Laboratory Testing for Activated Protein C Resistance (APCR): An Update.

22. Anti-CENP-C Antibody-Based Immunofluorescence Dicentric Assay: Radiation Dose-Response, Validation Studies, and Radiation Dose-Dependency on Sister Centromere Fluorescence.

23. Downregulation of the Protein C Signaling System Is Associated with COVID-19 Hypercoagulability-A Single-Cell Transcriptomics Analysis.

24. [Analysis of PROC gene variant in a Chinese pedigree affected with hereditary protein C deficiency].

25. Factor V Leiden, Factor II, Protein C, Protein S, and Antithrombin and Ischemic Strokes in Young Adults: A Meta-Analysis.

26. Regulation of factor V by the anticoagulant protease activated protein C: Influence of the B-domain and TFPIα.

27. Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.

28. DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder.

29. Prolonged α-thrombin-related activation and delayed active protein C-associated degradation confer mild phenotype in a patient with severe hemophilia A with F8 p.H118R.

30. [Surfactant protein C dysfunction in pediatric patients: Clinical Case].

31. Laboratory Testing for the Evaluation of Phenotypic Activated Protein C Resistance.

32. Peripartum management of hereditary thrombophilia: results of primary surveillance in Japan.

33. Thrombotic Risk Determined by Protein C Receptor (PROCR) Variants among Middle-Aged and Older Adults: A Population-Based Cohort Study.

34. [Analysis of the molecular pathogenesis of hereditary protein C deficiency due to a p.Gly86Asp variant of the PROC gene].

36. Pediatric Retinal Detachment in Homozygous Protein C Deficiency: Genetic and Phenotypic Description of a Single Family.

37. A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms

38. Thrombomodulin (THBD) gene variants and thrombotic risk in a population-based cohort study.

39. Chemical Regulation of the Protein Quality Control E3 Ubiquitin Ligase C-Terminus of Hsc70 Interacting Protein (CHIP).

40. Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults: A Population-Based Cohort Study.

41. Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F).

42. [Clinical manifestations and gene analysis of 18 cases of hereditary protein S deficiency].

43. [Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].

44. Kallikrein augments the anticoagulant function of the protein C system in thrombin generation.

45. aPC/PAR1 confers endothelial anti-apoptotic activity via a discrete, β-arrestin-2-mediated SphK1-S1PR1-Akt signaling axis.

46. Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families.

47. Protective Role of Activated Protein C against Viral Mimetic Poly(I:C)-Induced Inflammation.

48. Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report.

49. Protein C Promotor Haplotypes Associated with Large-Artery Atherosclerosis Stroke in Iranian Population.

50. Diffuse Intracerebral Hemorrhage in an Infant With a Novel Homozygous Variant Leading to Severe Protein C Deficiency.

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