Molecular Pathogenesis of Protein C-Nagoya, a Hereditary Type I Protein C Deficiency
نویسندگان
چکیده
منابع مشابه
Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and cellular basis for hereditary protein C deficiency.
Genetic analysis of a heterozygous protein C-deficient patient revealed a novel deletion of a single guanine residue (8857G) among four consecutive guanine nucleotides [380Trp(TGG)-381Gly(GGT)] in exon IX, which encodes the carboxyl-terminal region of protein C. This deletion results in a frameshift mutation and substitution of the last 39 amino acids (381Gly-419Pro) with 81 abnormal amino acid...
متن کاملType I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.
Protein C (PROC) deficiency is one of the most common autosomal codominant diseases. Although more than 150 germline mutations in the PROC gene have been described around the world, the spectrum of mutations among French Canadians is unknown. We have identified one frameshift (3363 ins C) and two missense mutations (R178Q and T298M) in 7 French Canadian families with type I PROC deficiency. In ...
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Severe protein C deficiency (i.e. protein C activity <1 IU dL(-1)) is a rare autosomal recessive disorder that usually presents in the neonatal period with purpura fulminans (PF) and severe disseminated intravascular coagulation (DIC), often with concomitant venous thromboembolism (VTE). Recurrent thrombotic episodes (PF, DIC, or VTE) are common. Homozygotes and compound heterozygotes often pos...
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A male infant born by caesarean section at 38 weeks of gestational age (B.W. 4055 g; Apgar 9-10), in the first two hours of life his right leg became hypo-vascularized. Normal values of leukocytes, red cells, haematocrit, hemoglobin, platelets. C-Reactive Protein negative. Electrolytes and coagulation tests were normal. Normal vitamin K coagulation proteins levels. Serological tests for TORCH (...
متن کاملProtein C deficiency: a case review.
Protein C (PC) deficiency is a rare but life-threatening bleeding disorder that can present in the immediate neonatal period. This article presents the case of a baby girl with acute and progressive neonatal purpura fulminans as the presenting feature of PC deficiency. Other common complications of this disease include ophthalmic problems and central nervous system (CNS) changes. Management con...
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ژورنال
عنوان ژورنال: Japanese Journal of Thrombosis and Hemostasis
سال: 1996
ISSN: 1880-8808,0915-7441
DOI: 10.2491/jjsth.7.199