protein c deficiency

Summary

Summary: An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)

Top Publications

  1. ncbi [Inherited thrombophilia and arterial diseases]
    H Robert-Ebadi
    Unite d hémostase, Service d angiologie et d hémostase, HUG, Geneve
    Rev Med Suisse 3:331-2, 334-5. 2007
  2. pmc The prothrombotic phenotypes in familial protein C deficiency are differentiated by computational modeling of thrombin generation
    Kathleen E Brummel-Ziedins
    Department of Biochemistry, University of Vermont, College of Medicine, Burlington, Vermont, United States of America
    PLoS ONE 7:e44378. 2012
  3. pmc Cell adhesion molecule 1: a novel risk factor for venous thrombosis
    Sandra J Hasstedt
    Department of Human Genetics, University of Utah, Salt Lake City, USA
    Blood 114:3084-91. 2009
  4. ncbi Paediatric presentation and outcome of congenital protein C deficiency in Japan
    S Ohga
    Department of Perinatal and Pediatric Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Haemophilia 19:378-84. 2013
  5. ncbi A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects
    F Bernardi
    Dipartimento di Biochimica e Biologia Molecolare, Universita di Ferrara, Italy
    Thromb Haemost 76:505-9. 1996
  6. ncbi [Protein C deficiency in patient with sepsis-associated disseminated intravascular coagulation and deep vein thrombosis]
    Mauro Tassin
    Terapia Intensiva Pediatrica, Hospital Provincial de Neuquén Dr Eduardo Castro Rendón
    Arch Argent Pediatr 111:e28-30. 2013
  7. ncbi Severe protein C deficiency is associated with organ dysfunction in patients with severe sepsis
    Andrew D Shaw
    Department of Anesthesiology, Duke University, DUMC 3094, Durham, NC 27710, USA
    J Crit Care 26:539-45. 2011
  8. ncbi Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family
    Arturo Cafolla
    Dipartimento di Ematologia Sapienza University Rome, Rome, Italy
    Eur J Haematol 88:336-9. 2012
  9. pmc Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population
    Liang Tang
    Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, People s Republic of China
    PLoS ONE 7:e35773. 2012
  10. ncbi Characterization of the human prostaglandin H synthase 1 gene (PTGS1): exclusion by genetic linkage analysis as a second modifier gene in familial thrombosis
    B T Scott
    Department of Pathology, University of Vermont, Burlington 05405, USA
    Blood Coagul Fibrinolysis 13:519-31. 2002

Research Grants

Detail Information

Publications212 found, 100 shown here

  1. ncbi [Inherited thrombophilia and arterial diseases]
    H Robert-Ebadi
    Unite d hémostase, Service d angiologie et d hémostase, HUG, Geneve
    Rev Med Suisse 3:331-2, 334-5. 2007
    ..Anticoagulation rather than antiplatelet therapy may be preferable for these patients...
  2. pmc The prothrombotic phenotypes in familial protein C deficiency are differentiated by computational modeling of thrombin generation
    Kathleen E Brummel-Ziedins
    Department of Biochemistry, University of Vermont, College of Medicine, Burlington, Vermont, United States of America
    PLoS ONE 7:e44378. 2012
    ..In addition, variations within the plasma composition of each individual can further segregate out increased procoagulant phenotypes, with gender-associated plasma compositional differences playing a large role...
  3. pmc Cell adhesion molecule 1: a novel risk factor for venous thrombosis
    Sandra J Hasstedt
    Department of Human Genetics, University of Utah, Salt Lake City, USA
    Blood 114:3084-91. 2009
    ..Finally, we have for the first time demonstrated CADM1 in endothelial cells, where it appears to be selectively involved in endothelial cell migration, suggesting a role in endothelial barrier repair...
  4. ncbi Paediatric presentation and outcome of congenital protein C deficiency in Japan
    S Ohga
    Department of Perinatal and Pediatric Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Haemophilia 19:378-84. 2013
    ..PC nagoya was prevalent in paediatric, but not adult, patients in Japan. Early maternal screening and optimal PC therapy are required for newborns at risk of PC deficiency...
  5. ncbi A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects
    F Bernardi
    Dipartimento di Biochimica e Biologia Molecolare, Universita di Ferrara, Italy
    Thromb Haemost 76:505-9. 1996
    ..gene alteration was associated with, in one patient, the factor V Leiden mutation and, in the other, type I protein C deficiency. The tracing of the single defects in several family members indicated that the mutations became clinically ..
  6. ncbi [Protein C deficiency in patient with sepsis-associated disseminated intravascular coagulation and deep vein thrombosis]
    Mauro Tassin
    Terapia Intensiva Pediatrica, Hospital Provincial de Neuquén Dr Eduardo Castro Rendón
    Arch Argent Pediatr 111:e28-30. 2013
    ..We report a patient with sepsis associated-DIC and concurrent deep venous thrombosis. The diagnostic evaluation allowed to discover inherited thrombophilia associated to protein C deficiency.
  7. ncbi Severe protein C deficiency is associated with organ dysfunction in patients with severe sepsis
    Andrew D Shaw
    Department of Anesthesiology, Duke University, DUMC 3094, Durham, NC 27710, USA
    J Crit Care 26:539-45. 2011
    ..The aim of this study was to assess the relationship between protein C levels and temporal changes in organ dysfunction...
  8. ncbi Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family
    Arturo Cafolla
    Dipartimento di Ematologia Sapienza University Rome, Rome, Italy
    Eur J Haematol 88:336-9. 2012
    ..We have investigated the relationship between PC deficiency genotype and clinical phenotype in a large four-degree Italian family followed since 1988...
  9. pmc Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population
    Liang Tang
    Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, People s Republic of China
    PLoS ONE 7:e35773. 2012
    ..Hereditary PC deficiency causes a predisposition to venous thrombosis (VT). The genetic characteristics of PC deficiency in the Chinese population remain unknown...
  10. ncbi Characterization of the human prostaglandin H synthase 1 gene (PTGS1): exclusion by genetic linkage analysis as a second modifier gene in familial thrombosis
    B T Scott
    Department of Pathology, University of Vermont, Burlington 05405, USA
    Blood Coagul Fibrinolysis 13:519-31. 2002
    ..kindred indicates that an unknown gene promotes thrombosis when inherited in conjunction with type I protein C deficiency. Cyclooxygenase-1 [prostaglandin H synthase 1 gene (PTGS1)] was tested as a plausible candidate for the ..
  11. ncbi Molecular genetic analysis of severe protein C deficiency
    D S Millar
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Genet 106:646-53. 2000
    Severe protein C deficiency is a rare, early onset, venous thrombotic condition that is inherited as an autosomal recessive trait...
  12. ncbi The cytoprotective protein C pathway
    Laurent O Mosnier
    Department of Molecular and Experimental Medicine MEM 180, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, USA
    Blood 109:3161-72. 2007
    ....
  13. pmc An accompanying genetic severe deficiency of tissue factor protects mice with a protein C deficiency from lethal endotoxemia
    Francis J Castellino
    W M Keck Center for Transgene Research, University of Notre Dame, Notre Dame, IN 46556, USA
    Blood 117:283-9. 2011
    ..This suggests that proteases generated as a result of factor VIIa/TF-mediated thrombin generation play a mechanistic role in the enhanced lethality seen under very low PC conditions in an endotoxemia model in mice...
  14. pmc A protein C deficiency exacerbates inflammatory and hypotensive responses in mice during polymicrobial sepsis in a cecal ligation and puncture model
    Jorge G Ganopolsky
    W M Keck Center for Transgene Research, Department of Chemistry and Biochemistry, 434 Stepan Hall of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN 46556, USA
    Am J Pathol 165:1433-46. 2004
    ..Thus, the hemodynamic role of PC during sepsis is of critical importance to the outcome of the disease...
  15. ncbi Frequency of natural coagulation inhibitor (antithrombin III, protein C and protein S) deficiencies in Japanese patients with spontaneous deep vein thrombosis
    E Suehisa
    Central Laboratory for Clinical Investigation, Osaka University Hospital, Suita, Japan
    Blood Coagul Fibrinolysis 12:95-9. 2001
    ..We recommend that PS activity should be measured for screening of thrombosis since type II deficiency accounted for approximately 50% of PS deficiency cases in both patients and the normal group in the Japanese...
  16. ncbi Advances in understanding pathogenic mechanisms of thrombophilic disorders
    Bjorn Dahlback
    Department of Laboratory Medicine, Section of Clinical Chemistry, Lund University, University Hospital Malmo, Malmo, Sweden
    Blood 112:19-27. 2008
    ....
  17. ncbi Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis
    Christian Breuer
    Pediatric Infectious Diseases, Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Eur J Pediatr 167:1449-52. 2008
    ..laboratory work up confirmed the diagnosis of acute Epstein-Barr virus infection and additionally revealed protein C deficiency. This association has not been reported previously and may have contributed to the development of splenic ..
  18. ncbi The role of protein C deficiency in the etiology of Perthes disease
    Marcos Almeida Matos
    Department of Orthopedics and Traumatology, Bahian School of Medicine and Public Health, Salvador Bahia, Brazil
    Ortop Traumatol Rehabil 10:274-8. 2008
    ..plays an important role in the pathogenesis of Perthes disease (PD) and the objective of this report is to show evidence of the role of protein C deficiency in the etiology of PD, based on a meta-analysis of current scientific literature.
  19. ncbi A model for the formation, growth, and lysis of clots in quiescent plasma. A comparison between the effects of antithrombin III deficiency and protein C deficiency
    M Anand
    Department of Mechanical Engineering, Texas A and M University, College Station, TX 77843, USA
    J Theor Biol 253:725-38. 2008
    ..The incorporation of varying hemodynamic conditions in to the current fluid static model remains to be performed...
  20. ncbi Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT)
    C Y Vossen
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    J Thromb Haemost 3:459-64. 2005
    ..Reliable risk estimates for venous thrombosis in families with inherited thrombophilia are scarce but necessary for determining optimal screening and treatment policies...
  21. ncbi Management of neonatal purpura fulminans with severe protein C deficiency
    Krishna Sen
    Department of Pediatric Medicine, Park Childrens Center for Treatment and Research, 4 Gorky Terrace, Kolkata 700 019, India
    Indian Pediatr 43:542-5. 2006
    ..We report an autosomal recessive form of the disease in a neonate who was diagnosed with compound heterozygosity for mutations in his protein C gene as the molecular basis of his disorder...
  22. ncbi Attitudes toward genetic testing for thrombophilia in asymptomatic members of a large family with heritable protein C deficiency
    I M van Korlaar
    Unit of Psychology, Leiden University Medical Center, Leiden, The Netherlands
    J Thromb Haemost 3:2437-44. 2005
    ..Little research has been performed regarding the psychological consequences of knowing that one is at an increased risk for venous thrombosis...
  23. ncbi [Thyroid crisis and protein C deficiency in a case of superior sagittal sinus thrombosis]
    Kiyomi Nagumo
    Department of Neurology, Matsudo Municipal Hospital, 4005 Kamihongo, Matsudo, Chiba 271 8511, Japan
    Brain Nerve 59:271-6. 2007
    ..with superior sagittal sinus thrombosis and thyroid crisis, and was subsequently found to have protein C deficiency. February 3, 2003, she admitted complaining of abdominal pain...
  24. ncbi Acquired protein C deficiency in a child with acute myelogenous leukemia, splenic, renal, and intestinal infarction
    Roula A Farah
    Department of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon
    Blood Coagul Fibrinolysis 22:140-3. 2011
    ..He continues to be in complete remission 7 years later with normal protein C levels. Acquired protein C deficiency can occur in a variety of settings and has been reported in acute myelocytic leukemia...
  25. ncbi [Traumatic unilateral renal artery thrombosis and protein C deficiency. A case report]
    M Bahloul
    Service de Reanimation Medicale, CHU Habib Bourguiba, Route el Ain Km 1, 3029 Sfax, Tunisie
    J Mal Vasc 31:277-9. 2006
    ..Our patient was improved under treatment. This original observation confirms that post traumatic renal artery thrombosis can be associated with hematologic diseases (in particular protein C deficit)...
  26. ncbi Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient family
    C Y Vossen
    Pathology, University of Vermont, Burlington, VT 05405, USA
    J Thromb Haemost 2:242-7. 2004
    ..Earlier studies found strong support for a genetic basis for regulation of coagulation factor levels and measures of a prethrombotic state (d-dimer, prothrombin fragment 1.2)...
  27. ncbi Low levels of protein C are associated with poor outcome in severe sepsis
    S B Yan
    Eli Lilly and Company, Lilly Research Laboratories, Indianapolis, IN 46285, USA
    Chest 120:915-22. 2001
    ..A total of 63 of the 70 patients (90%) studied in this report had acquired protein C deficiency at entry to the ISS trial (baseline)...
  28. ncbi Perinatal management of patients at high risk of homozygous protein C deficiency
    Chris Barnes
    Thromb Haemost 88:370-1. 2002
  29. ncbi Successful protein C concentrate administration during initiation of oral anticoagulation in adult patients with severe congenital protein C deficiency: report of two cases
    Davide Imberti
    Thrombosis and Haemostasis Center, Emergency Department, Piacenza Hospital, Piacenza, Italy
    Pathophysiol Haemost Thromb 36:53-7. 2008
    ..We conclude that PC concentrate seems to be effective for the prevention of thromboembolic complications and safe in patients with congenital PC deficiency while initiating oral anticoagulants...
  30. ncbi Hereditary protein C deficiency caused by the Ala267Thr mutation in the protein C gene is associated with symptomatic and asymptomatic venous thrombosis
    Lena Tjeldhorn
    Department of Hematology, Oslo University Hospital Ulleval, Oslo, Norway
    Thromb Res 125:230-4. 2010
    ..In the present study we describe and characterize an ethnic Lebanese family in which individuals with reduced PC levels and APC resistance have various clinical symptoms...
  31. ncbi Protein C deficiency
    N A Goldenberg
    Hemophilia and Thrombosis Center, Department of Pediatrics, University of Colorado Denver and The Children s Hospital, Aurora, CO, USA
    Haemophilia 14:1214-21. 2008
    Severe protein C deficiency (i.e...
  32. ncbi Severe protein C deficiency predicts early death in severe sepsis
    William L Macias
    Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA
    Crit Care Med 32:S223-8. 2004
    ..To explore the relationship between measures of baseline disease severity and survival time in patients with severe sepsis...
  33. pmc An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency
    S J Hasstedt
    University of Utah, Department of Human Genetics, Salt Lake City, UT 84112 5330, USA
    Am J Hum Genet 63:569-76. 1998
    We used two-locus segregation analysis to test whether an unknown genetic defect interacts with protein C deficiency to increase susceptibility to venous thromboembolic disease in a single large pedigree...
  34. ncbi Homozygous protein C deficiency with purpura fulminans: report of a new case and a description of a novel mutation
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Center MBC 03, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia
    Blood Coagul Fibrinolysis 14:303-6. 2003
    We report here a quite rare case of severe homozygous protein C deficiency. The index case is a 9-month-old Saudi boy who was born after an uneventful pregnancy at 39 weeks...
  35. ncbi Superior sagittal sinus thrombosis occurring at high altitude associated with protein C deficiency
    P Boulos
    Department of Medicine, Division of Hematology, Montreal General Hospital, McGill University, Montreal, Canada
    Acta Haematol 102:104-6. 1999
    ..32 U/ml, normal 0.80-1.60 U/ml). A family member was also found to have protein C deficiency without a history of thrombosis...
  36. ncbi The investigation and management of neonatal haemostasis and thrombosis
    Michael D Williams
    Birmingham Children s Hospital, UK
    Br J Haematol 119:295-309. 2002
    ..Most of the recommendations are therefore of Grade C evidence levels IV: higher levels are mentioned specifically throughout the document when relevant...
  37. ncbi Activated protein C concentrate reverses purpura fulminans in severe genetic protein C deficiency
    Marilyn J Manco-Johnson
    Mountain States Regional Hemophilia and Thrombosis Center, P O Box 6507, Mail Stop F 416, Aurora, CO 80045 0507, USA
    J Pediatr Hematol Oncol 26:25-7. 2004
    Severe genetic protein C deficiency is rare and is associated with severe, often fatal thrombosis...
  38. ncbi Laboratory tests for protein C deficiency
    Bernard Khor
    Department of Pathology, Massachusetts General Hospital, Boston, 02114, USA
    Am J Hematol 85:440-2. 2010
    Hereditary protein C deficiency is a hypercoagulable state associated with an increased risk for venous thrombosis...
  39. ncbi Successful management of a pregnant woman with heterozygous protein C deficiency using activated protein C concentrate
    Kentaroh Sekiyama
    Department of Gynecology and Obstetrics, Clinical Sciences for Pathological Organs, Kyoto University Graduate School of Medicine, Kyoto, Japan
    J Obstet Gynaecol Res 29:412-5. 2003
    Heterozygous protein C deficiency frequently causes deep vein thrombosis during pregnancy...
  40. ncbi Diagnosis and treatment of a newborn with homozygous protein C deficiency
    M Salonvaara
    Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland
    Acta Paediatr 93:137-9. 2004
    The case is reported of a seriously affected newborn with homozygous protein C deficiency who developed neonatal purpura fulminans. Foetal ultrasound at 33 wk of gestation revealed ventriculomegaly...
  41. ncbi Heparin-induced thrombocytopenia and warfarin-induced skin necrosis in a child with severe protein C deficiency: successful treatment with dermatan sulfate and protein C concentrate
    L Gatti
    J Thromb Haemost 1:387-8. 2003
  42. ncbi Severe clinical presentation of protein C deficiency in a type I/II compound heterozygote newborn
    Miguel Fernandez-Burriel
    Unidad de Investigacion, Servicio de Analisis Clinicos, Hospital de Mérida, 06800 Merida, Badajoz, Spain
    Thromb Haemost 94:216-8. 2005
  43. ncbi A young adult with coronary artery and jugular vein thrombosis: a case report of combined protein S and protein C deficiency
    Omer Cakir
    Department of Thoracic and Cardiovascular Surgery, Dicle University School of Medicine, Dicle, Turkey
    Heart Vessels 17:74-6. 2002
    ..Our report emphasizes that a combined deficiency of protein C and S may be a high risk factor for arterial thromboembolic events in young adults...
  44. pmc Protein C deficiency manifesting as an acute myocardial infarction and ischaemic stroke
    I Y Tiong
    Department of Internal Medicine, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Heart 89:E7. 2003
    b>Protein C deficiency is a disorder in the coagulation cascade that results in predominantly venous thromboembolism...
  45. ncbi Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese
    T Sakata
    J Thromb Haemost 2:528-30. 2004
  46. ncbi Protein C deficiency caused by homozygosity for a novel PROC D180G mutation--in vitro expression and structural analysis of the mutation
    Bent Lind
    Department of Clinical Biochemistry KB 3 01 1, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Thromb Haemost 88:632-8. 2002
    ..However, if secreted the mutant molecule could have a relatively normal catalytic activity and structure consistent with the plasma levels of protein C activity and the late onset of thrombosis...
  47. ncbi Genome scan of venous thrombosis in a pedigree with protein C deficiency
    S J Hasstedt
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112 5330, USA
    J Thromb Haemost 2:868-73. 2004
    ..Vermont II has a high frequency of venous thrombosis, occurring primarily in pedigree members with type I protein C deficiency due to a 3363 inserted (Ins) C mutation in exon 6 of the protein C gene...
  48. ncbi Molecular mechanism for hereditary protein C deficiency in two Chinese families with thrombosis
    R F Zhou
    J Thromb Haemost 4:1154-6. 2006
  49. ncbi Treatment of sepsis-induced acquired protein C deficiency reverses Angiotensin-converting enzyme-2 inhibition and decreases pulmonary inflammatory response
    Mark A Richardson
    Biotechnology Discovery Research, Lilly Research Laboratories, Lilly Corporate Center, Indianapolis, IN 46285, USA
    J Pharmacol Exp Ther 325:17-26. 2008
    ....
  50. ncbi Stuttering priapism complicating warfarin therapy in a patient with protein C deficiency
    R A H Abu Sham'a
    Department of Internal Medicine and Cardiology, Makassed Hospital, Jerusalem, Israel
    Int J Lab Hematol 30:339-43. 2008
    ..We report a rare case of recurrent (stuttering) priapism in a patient with protein C deficiency while maintained on Warfarin therapy. This therapy was also complicated by Warfarin-induced skin necrosis.
  51. ncbi Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency
    S R Poort
    Department of Hematology, University Hospital, Leiden, The Netherlands
    Blood Coagul Fibrinolysis 4:273-80. 1993
    The molecular basis of hereditary type I and type II protein C deficiency was studied in a panel of 14 unrelated Austrian families...
  52. ncbi En bloc heterotopic auxiliary liver and bilateral renal transplant in a patient with homozygous protein C deficiency
    M Angelis
    Department of Surgery, Division of Liver Transplant, University of Miami School of Medicine, Miami, Florida, USA
    J Pediatr 138:120-2. 2001
    An 8-year-old girl with homozygous protein C deficiency who had undergone maintenance dialysis since birth because of renal veins with thrombosis was treated with an en bloc heterotopic auxiliary liver and bilateral renal transplantation...
  53. ncbi Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-stand conformational polymorphism analysis and a model building
    T Miyata
    Research Institute, National Cardiovascular Center, Suita, Japan
    Thromb Haemost 76:302-11. 1996
    We studied the molecular basis of protein C deficiency in 28 Japanese families including 4 asymptomatic families...
  54. ncbi Severe congenital protein C deficiency: description of a new mutation and prophylactic protein C therapy and in vivo pharmacokinetics
    Wendy Y Tcheng
    Division of Hematology Oncology, Department of Pediatrics, Harbor UCLA Medical Center, Torrance, CA, USA
    J Pediatr Hematol Oncol 30:166-71. 2008
    Severe congenital protein C deficiency is a rare life-threatening disorder that presents with purpura fulminans, disseminated intravascular coagulation, and thrombotic complications during the neonatal period...
  55. ncbi Symptomatic type 1 protein C deficiency caused by a de novo Ser270Leu mutation in the catalytic domain
    B Lind
    Section of Haemostasis and Thrombosis, Department of Clinical Biochemistry, Copenhagen University Hospital, Denmark
    Br J Haematol 113:642-8. 2001
    ..Collectively, these results indicate that the Ser270Leu mutation in the affected family caused the plasma protein C deficiency and are consistent with a disease mechanism that involves synthesis of mutant protein followed by ..
  56. ncbi Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation
    Mee Jeong Lee
    Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
    Pediatr Transplant 13:251-4. 2009
    Homozygous protein C deficiency is an autosomal recessive disorder often presenting with purpura fulminans. Fresh frozen plasma and oral anticoagulation have been used in the treatment of this disease...
  57. ncbi Ophthalmic manifestation of congenital protein C deficiency
    L O Hattenbach
    Department of Ophthalmology, Johann Wolfgang Goethe University Hospital, Frankfurt am Main, Germany
    J AAPOS 3:188-90. 1999
    ..This results in an increase in circulatory plasminogen activator levels. Protein C deficiency, a genetic or acquired thrombophilic abnormality, has been demonstrated to predispose to episodes of ..
  58. ncbi Intermittent coronary artery occlusion caused by a floating thrombus in the left coronary sinus of valsalva of a patient with a normal aorta and protein C deficiency
    Kazuki Hisatomi
    Department of Cardiovascular Surgery, Oita Prefectural Hospital, Oita, Japan
    Ann Thorac Surg 92:1508-10. 2011
    ..On histologic examination the mass was found to be a thrombus. This patient had a low level of protein C; therefore, it was presumed that the thrombus was due to protein C deficiency.
  59. ncbi Livedoid vasculopathy associated with heterozygous protein C deficiency
    A Boyvat
    Department of Dermatology, Ankara University School of Medicine, Turan Güneş Bulvari 42 Sokak, Seçkinler sitesi B2 4, Oran Ankara 06450, Turkey
    Br J Dermatol 143:840-2. 2000
    ..Livedoid vasculopathy (under the designation livedo vasculitis) was first reported to be associated with protein C deficiency in 1992...
  60. ncbi The G20210A prothrombin polymorphism is not associated with increased thromboembolic risk in a large protein C deficient kindred
    E G Bovill
    Department of Pathology, University of Vermont, Burlington 05405, USA
    Thromb Haemost 83:366-70. 2000
    ..on thrombosis status and prothrombin level in a large kindred of French Canadian descent with type I protein C deficiency. Genotypes were available on 279 pedigree members or their spouses...
  61. ncbi Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C
    K Yamamoto
    First Department of Internal Medicine, Nagoya University School of Medicine, Japan
    J Lab Clin Med 119:682-9. 1992
    ..boundaries of the protein C gene in a Japanese patient with recurrent thromboembolism and complete protein C deficiency. By sequencing these fragments we identified a previously undescribed mutation...
  62. ncbi [Perioperative management of a patient with purpura fulminans syndrome due to protein C deficiency]
    K Kumagai
    Department of Anesthesiology, Aichi Medical University School of Medicine, Aichi, Japan
    Can J Anaesth 48:1070-4. 2001
    Protein C is a vitamin K-dependent anticoagulant and homozygous protein C deficiency is a rare fatal thrombotic disease...
  63. ncbi Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation
    Y Sugahara
    First Department of Medicine, Tokyo Medical and Dental University, Japan
    Blood 80:126-33. 1992
    ..expression assays using COS-7 cells transfected with mutated protein C expression vectors suggested that each of the two mutations leads to the protein C deficiency by causing an impairment of secretion of the respective mutant proteins.
  64. ncbi The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects
    P H Reitsma
    Department of Hematology, University Medical Center Leiden, The Netherlands
    Blood 78:890-4. 1991
    Heterozygosity for protein C deficiency is associated with thromboembolic episodes, but clinical symptoms are nonrandomly distributed among protein C deficient families...
  65. ncbi Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis
    C B Grundy
    Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK
    Hum Genet 89:685-6. 1992
    Non-identical missense mutations were identified at Arg 178 in the protein C genes of two patients with heterozygous type 1 protein C deficiency and recurrent venous thrombosis.
  66. ncbi Treatment of inherited protein C deficiency by replacement therapy with the French purified plasma-derived protein C concentrate (PROTEXEL)
    M Dreyfus
    Bicetre Hospital, Assistance Publique Hopitaux de Paris, Paris XI University, Le Kremlin Bicetre, France
    Vox Sang 93:233-40. 2007
    ..A multicentre retrospective study was performed to assess the efficacy/safety of a French purified plasma-derived protein C (PC) concentrate in inherited PC deficiency...
  67. ncbi Exclusion of the alpha2 subunit of platelet-activating factor acetylhydrolase 1b (PAFAH1B2) as a prothrombotic gene in a protein C-deficient kindred and population-based case-control sample
    Sandra J Hasstedt
    Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112 5330, USA
    Thromb Haemost 98:587-92. 2007
    b>Protein C deficiency increases the risk of venous thromboembolic disease among members of Kindred Vermont II, but fails to fully account for the inheritance pattern...
  68. ncbi Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency
    Paul N Knoebl
    Department of Medicine 1, Division Hematology and Hemostasis, Medical University of Vienna, Vienna, Austria
    Drugs Today (Barc) 44:429-41. 2008
    ..b>Protein C deficiency leads to macro- or microvascular thrombosis...
  69. ncbi Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred
    B T Scott
    Department of Pathology, University of Vermont, Burlington 05405, USA
    Thromb Haemost 85:82-7. 2001
    The incomplete penetrance of thrombosis in familial protein C deficiency suggests disease occurs when this deficit is combined with additional abnormalities in the hemostatic system...
  70. ncbi Type II protein C deficiency: identification and molecular modelling of two natural mutants with low anticoagulant and normal amidolytic activity
    E M Faioni
    Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, IRCCS Maggiore Hospital and Institute of Internal Medicine, University of Milan, Italy
    Br J Haematol 108:265-71. 2000
    ..The phenotype associated with the mutations is a type II protein C deficiency with normal amidolytic activity...
  71. ncbi Acute Budd-Chiari syndrome, portal and splenic vein thrombosis in a patient with ulcerative colitis associated with antiphospholipid antibodies and protein C deficiency
    U Junge
    Medizinische Klinik, Städtische Kliniken Bielefeld Rosenhöhe, Hannover, Germany
    Z Gastroenterol 39:845-52. 2001
    ..3 possible causes for the severe coagulation defect in this patient can be supposed: Thrombocytosis, protein C deficiency and an antiphospholipid antibody syndrome.
  72. ncbi Peripheral arterial insufficiency associated with protein C deficiency
    Y P Cho
    Department of General Surgery, Asan Kangnung Hospital, 415 Bangdong Ri, Sachun Myun, Republic of Korea
    Br J Radiol 75:843-6. 2002
    Two patients with protein C deficiency who presented with peripheral arterial insufficiency were successfully managed...
  73. ncbi Deep venous thrombosis associated with protein C and/or S deficiency: management with catheter-directed thrombolysis
    Y P Cho
    Department of Surgery and Diagnostic Radiology, Gangneung Asan Hospital, 415 Bangdong Ri, Sacheon myeon, Gangneung, Republic of Korea
    Br J Radiol 76:380-4. 2003
    ..This initial experience suggests that catheter-directed thrombolysis for treatment of acute symptomatic iliofemoral deep venous thrombosis associated with protein C and/or S deficiency is safe and effective...
  74. pmc Acute inflammation is exacerbated in mice genetically predisposed to a severe protein C deficiency
    Angelina J Lay
    W M Keck Center for Transgene Research, University of Notre Dame, Notre Dame, IN 46556, USA
    Blood 109:1984-91. 2007
    ..This study directly links host endogenous levels of PC with various coagulation, inflammation, and hemodynamic end points following a severe acute inflammatory challenge...
  75. ncbi Clinical management of protein C deficiency
    S L Pescatore
    Oncology Clinical Development, GlaxoSmithKline, Inc, Five Moore Drive, Research Triangle Park, North Carolina 27709, USA
    Expert Opin Pharmacother 2:431-9. 2001
    ..Maintenance of a symptom-free life depends on response to therapy. Patients responding well to treatment can expect normalisation of haemostasis as well as improvement of microcirculation and resolution of purpura fulminans...
  76. ncbi Reduction of high fetal loss rate by anticoagulant treatment during pregnancy in antithrombin, protein C or protein S deficient women
    Nienke Folkeringa
    Division of Haemostasis, Thrombosis and Rheology, Department of Haematology, University Medical Centre Groningen, Groningen, The Netherlands
    Br J Haematol 136:656-61. 2007
    ..07 (95% confidence interval 0.001-0.7; P = 0.02). Our data suggest that anticoagulant treatment during pregnancy reduces the high fetal loss rate in women with hereditary deficiencies of antithrombin, protein C or protein S...
  77. ncbi Prevalence of thrombophilia and catheter-related thrombosis in cystic fibrosis
    Michael Barker
    Department of Pediatrics, University Hospital, University of Technology Aachen, Aachen, Germany
    Pediatr Pulmonol 39:156-61. 2005
    ..It may thus be helpful to include a hemostatic evaluation in the clinical decision process for or against TIVAD insertion in eligible CF patients...
  78. ncbi Spinal dural arteriovenous fistulas are not associated with prothrombotic factors
    K Jellema
    Department of Neurology, St Elisabeth Hospital Tilburg, The Netherlands
    Stroke 35:2069-71. 2004
    ..In intracranial dural arteriovenous fistulas, an association with factor V Leiden mutation has been found. Therefore, we studied the association between prothrombotic factors and SDAVF...
  79. ncbi [Thrombosis and cardiovascular diseases]
    G Serino
    Dipartimento di Medicina Interna, Servizio di Medicina Cardiovascolare, Istituto Policlinico San Donato
    Pediatr Med Chir 25:329-37. 2003
    ..Thrombotic screening of affected individuals is fundamental to adjust dosage and length of therapy, for secondary prevention and for relatives evaluation...
  80. ncbi Thromboepidemiology: identifying patients with heritable risk for thrombin-mediated thromboembolic events
    Maichi Tran
    Department of Medicine, Division of Cardiovascular Medicine, University of Massachusetts Medical School, Worcester, Mass 01655, USA
    Am Heart J 149:S9-18. 2005
  81. ncbi [Protein C, protein S, protein Z]
    Yasuhiko Hamada
    Department of Molecular Pathobiology, Mie University School of Medicine
    Nihon Rinsho 62:681-6. 2004
  82. ncbi Portal vein thrombosis in children and adolescents: the low prevalence of hereditary thrombophilic disorders
    Raquel B Pinto
    Division of Pediatric Gastroenterology and Hematology Unit, Clinical Pathology Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    J Pediatr Surg 39:1356-61. 2004
    ..The aim of this study was to determine the frequency of thrombophilic disorders in children and adolescents with portal vein thrombosis (PVT) as well as assessing the hereditary character of this disorder...
  83. ncbi Effects of anticoagulation protein defect in maternal plasma on spontaneous abortion
    Chun mei Bai
    Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730
    Chin Med Sci J 19:290-2. 2004
    ..To investigate the mechanism of anticoagulation protein defect in the pathogenesis of unexplained recurrent miscarriage...
  84. ncbi Evaluation of thrombotic children with malignancy
    Selma Unal
    Section of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey
    Ann Hematol 84:395-9. 2005
    ....
  85. ncbi High risk of pregnancy-related venous thromboembolism in women with multiple thrombophilic defects
    Nienke Folkeringa
    Division of Haemostasis, Thrombosis and Rheology, Department of Haematology, University Medical Centre Groningen, Groningen, The Netherlands
    Br J Haematol 138:110-6. 2007
    ..In conclusion, women with hereditary deficiencies of antithrombin, protein C or protein S are at high risk of pregnancy-related venous thromboembolism. This risk is increased by multiple additional thrombophilic defects...
  86. ncbi Spontaneous splenorenal shunt in a patient with antiphospholipid syndrome: the first case reported
    F Cacciapaglia
    Department of Clinical Medicine, University Campus Bio Medico of Rome, Rome, Italy
    Lupus 16:56-8. 2007
    ..Spontaneous splenorenal shunt, an uncommon circumstance reported in cirrhotic disease, to the best of our knowledge, has not been previously described in PAPS...
  87. ncbi Thrombophilia and venous thromboembolism: implications for testing
    Danny M Cohn
    Academic Medical Center, Department of Vascular Medicine, Amsterdam, The Netherlands
    Semin Thromb Hemost 33:573-81. 2007
    ..This article reviews the currently established thrombophilic abnormalities and discusses the potential usefulness and implications of testing for thrombophilia...
  88. ncbi The relationship between thrombophilic mutations and preeclampsia: a prospective case-control study
    Ahmet Yalinkaya
    Dicle University School of Medicine, Department of Obstetrics and Gynecology, Diyarbakir, Turkey
    Ann Saudi Med 26:105-9. 2006
    ..The aim of this study was to determine the relationship between thrombophilia and preeclamptic patients in our region...
  89. ncbi Laboratory assessment of hypercoagulable state. A study in a group of patients with venous thromboembolism born in Chioggia
    G Gessoni
    Servizio di Medicina di Laboratorio, Ospedale Civile di Chioggia, Venezia, Italy
    Minerva Med 98:89-93. 2007
    ..Authors performed a Laboratory assessment for thrombophilia risk factors in a group of patients with previous deep venous thrombosis...
  90. ncbi Technique of anaesthesia in pulmonary hypertension and thrombophilia in early pregnancy
    K H Chuah
    Department of Anaesthesiology, University Malaya Medical Centre, Lembah Pantai, Kuala Lumpur 59100, Kuala Lumpur
    Med J Malaysia 61:114-6. 2006
    ..She was administered continuous spinal anaesthesia with invasive monitoring. The successful anaesthetic management of this condition is described...
  91. ncbi [Rare thrombophilic states]
    J Emmerich
    INSERM U765, médecine vasculaire HTA, Hopital Europeen Georges Pompidou, Universite Paris Descartes, 20, rue Leblanc, 75908 Paris cedex 1, France
    Rev Med Interne 29:482-5. 2008
    ..Rare thrombophilic states are mostly associated with recurrent venous thrombosis or severe thrombosis such as neonatal purpura fulminans. We review here the various causes of rare thrombophilic states...
  92. ncbi The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S
    Valerio De Stefano
    Institute of Hematology, Catholic University, Rome, Italy
    Haematologica 91:695-8. 2006
    ..9, 95% CI 1.0-3.9); the carriers of PC or PS deficiency had a marginal increase in risk (hazard ratio 1.4, 95% CI 0.9-2.2). In conclusion, patients with AT deficiency are potential candidates for long-term oral anticoagulation...
  93. ncbi [Abnormalities of haemostasis in myocardial infarction with normal coronary artery]
    Hassine Mohsen
    Laboratoire d Hematologie, E P S Fattouman Bourguiba de Monastír
    Tunis Med 83:675-80. 2005
    ..The aim of our study was to research abnormalities of haemostasis in patients with myocardial infarction and angiographically absolutely normal coronary arteries...
  94. ncbi Thrombophilias and recurrent pregnancy loss
    William H Kutteh
    University of Tennessee, Memphis, Memphis, Tennessee 38120 2363, USA
    Semin Reprod Med 24:54-66. 2006
    ....
  95. ncbi The risk of symptomatic pulmonary embolism due to proximal deep venous thrombosis differs in patients with different types of inherited thrombophilia
    Elena Rossi
    Institute of Hematology, Catholic University, Rome, Italy
    Thromb Haemost 99:1030-4. 2008
    ..7, 95%CI 0.5-1.0) in comparison with those with unknown inherited defect. These data suggest that patients with proximal DVT have different risks of symptomatic PE according to the type of inherited thrombophilia...
  96. ncbi Ischemic stroke subtypes and thrombophilia in young and elderly Brazilian stroke patients admitted to a rehabilitation hospital
    Francisco Javier Carod-Artal
    Neurology Department, The Sarah Network of Rehabilitation Hospitals, Sarah Hospital, Brasilia, DF, Brazil
    Stroke 36:2012-4. 2005
    ..We sought to examine ischemic stroke subtypes and prevalence of thrombophilia in Brazilian stroke patients...
  97. ncbi The incidence of venous thromboembolism in carriers of antithrombin, protein C or protein S deficiency associated with the HR2 haplotype of factor V: a family cohort study
    D Tormene
    Department of Medical and Surgical Sciences, 2nd Chair of Internal Medicine, University of Padua Medical School, Padua, Italy
    J Thromb Haemost 3:1414-20. 2005
    ..0%) and none in 147 non-carriers. In family members of patients with AT, PC or PS defects the coinheritance of HR2 haplotype does not seem to increase the thromboembolic risk...
  98. ncbi [Primary thrombophilia. Report of 93 cases and 12 asymptomatic relatives]
    Eliana Srur
    Laboratorio Vascular, Instituto de Enfermedades Circulatorias, Santiago de Chile
    Rev Med Chil 132:1466-73. 2004
    ..Thrombophilia is defined as an altered hemostasis that predisposes to thrombosis. It can be primary when there is a family clustering of the disease or secondary, when it is associated to an acquired risk factor...
  99. ncbi [Mesenteric vein thrombosis and protein C and S deficiency in a patient with chronic hepatitis C on treatment with interferon and ribavirin]
    Jesús Monterrubio Villar
    Unidad de Cuidados Intensivos, Hospital Don Benito Villanueva, D 06400 Don Benito, Badajoz, Spain
    Gastroenterol Hepatol 30:271-3. 2007
    ..Chronic hepatitis C and treatment with interferon has often been associated with a procoagulant state, and on many occasions due to different factors and mechanisms...
  100. ncbi [Obstetric aspects of hereditary thrombophilias: epidemiology, complications and prophylaxis]
    Mieczysław Uszyński
    Katedry i Zakładu Propedeutyki Medycyny, Bydgoszczy
    Ginekol Pol 74:398-411. 2003
    ..The study also discusses prophylactic rules: application of low molecular weight heparin and non-fractionated heparin in prophylaxis and in hyperhomocysteinemia application of folic acid...
  101. ncbi The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation
    Glenn S Buchanan
    Department of Internal Medicine, University of Utah Health Sciences Center, 30 North 1900 East Medical Drive, Salt Lake City, UT 84132, USA
    Best Pract Res Clin Obstet Gynaecol 17:397-411. 2003
    ..This chapter covers the genetics and epidemiology of the inherited thrombophilias and provides a useful, common-sense approach to the laboratory evaluation of a patient with venous thrombosis...

Research Grants10

  1. Identification of Inhibitors that Stabilize ER Degradation Substrates
    Domenico Tortorella; Fiscal Year: 2012
    ..g. emphysema and cystic fibrosis), blood disorders (e.g. protein C deficiency), and neurological disorders (e.g. neuronal ceroid lipofuscinoses and Fabri disease)...
  2. Epidemiologic Study of Placental Abruption
    Cande Ananth; Fiscal Year: 2006
    ..as lupus anticoagulant and anticardiolipin antibodies, as well as other heritable thrombophilias including protein C deficiency, activated protein C resistance, factors VIII and XI coagulation abnormalities...
  3. Pathophysiologies Involving Hemostasis-related Genes
    Francis Castellino; Fiscal Year: 2008
    ..abstract_text> ..
  4. Individual Propensity to Venous Thrombosis
    John Heit; Fiscal Year: 2009
    ..However, the incidence of VTE has remained relatively constant at about 1 per 1000 since 1980. Clearly, better methods of targeting VTE prophylaxis are needed. ..
  5. Novel Anticoagulant Mechanisms
    MARY HEEB; Fiscal Year: 2006
    ..We will find whether a ZPI polymorphism we identified affects function. ..
  6. FORMS OF PROSTATE SPECIFIC ANTIGEN AND HK2 IN CANCER
    MARY HEEB; Fiscal Year: 2003
    ..Techniques will include protein purification, antibody and ELISA development, immunoblotting, enzyme activity assays, and peptide synthesis. ..
  7. Platelet Activating Factor & cervical ripening
    George Saade; Fiscal Year: 2003
    ..These studies would lead to a better understanding of the mechanisms responsible for cervical ripening and therefore might improve our ability to control cervical ripening clinically. ..
  8. CHRONIC OBSTRUCTIVE PULMONARY DISEASE GENE LOCALIZATION
    SANDRA HASSTEDT; Fiscal Year: 2002
    ..Identifying a gene that when mutated increases the risk of COPD may increase understanding of pulmonary function, as well as allowing gene-carriers to be identified and made aware of their susceptibility. ..
  9. MODELS FOR THE GENETIC EPIDEMIOLOGY OF CHRONIC DISEASE
    SANDRA HASSTEDT; Fiscal Year: 2009
    ..In addition, this application proposes to implement changes to increase computational speed, allow data exploration, and facilitate data handling and analysis, while continuing to distribute and support PAP. ..