Heterozygous protein C deficiency and dysfibrinogenemia acquired by liver transplantation

1995 ◽  
Vol 8 (4) ◽  
pp. 307-311 ◽  
Author(s):  
M. Cransac ◽  
J. Carles ◽  
P.-H. Bernard ◽  
P. Malavialle ◽  
G. Freyburger ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Protein C ◽  
Protein C Deficiency ◽  
Heterozygous Protein C Deficiency

PROTEIN C DEFICIENCY AND PORTAL THROMBOSIS IN LIVER TRANSPLANTATION IN CHILDREN

The Lancet ◽  
1988 ◽  
Vol 332 (8617) ◽  
pp. 924-927 ◽  
Author(s):  
P.L. Harper ◽  
R.J. Luddington ◽  
R.W. Carrell ◽  
N. Barnes ◽  
P.F. Edgar ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Protein C ◽  
Portal Thrombosis ◽  
Protein C Deficiency

scholarly journals Probable Dysfunctional Protein S in a Patient with Congenital Heterozygous Protein C Deficiency

1991 ◽  
Vol 2 (6) ◽  
pp. 518-523 ◽  
Author(s):  
Toshiyuki SAKATA ◽  
Nobuko TSUSHIMA ◽  
Kaoru HATANAKA ◽  
Takashi MORISHITA ◽  
Hiroyuki HATSUYAMA ◽  
...  
Keyword(s):  
Protein C ◽  
Protein S ◽  
Protein C Deficiency ◽  
Heterozygous Protein C Deficiency

Successful living domino liver transplantation in a child with protein C deficiency

2015 ◽  
Vol 19 (3) ◽  
pp. E70-E74 ◽  
Author(s):  
Masatoshi Matsunami ◽  
Akira Ishiguro ◽  
Akinari Fukuda ◽  
Kengo Sasaki ◽  
Hajime Uchida ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Protein C ◽  
Protein C Deficiency ◽  
Domino Liver Transplantation

Livedoid vasculopathy associated with heterozygous protein C deficiency

2000 ◽  
Vol 143 (4) ◽  
pp. 840-842 ◽  
Author(s):  
A. Boyvat ◽  
N. KundakC¸i ◽  
M.O.A. Babikir ◽  
E. Gürgey
Keyword(s):  
Protein C ◽  
Protein C Deficiency ◽  
Livedoid Vasculopathy ◽  
Heterozygous Protein C Deficiency

Compound Heterozygous Protein C Deficiency Caused by Two Mutations, Arg-178 to Gin and Cys-331 to Arg, Leading to Impaired Secretion of Mutant Protein C

1994 ◽  
Vol 72 (06) ◽  
pp. 814-818 ◽  
Author(s):  
Yuichi Sugahara ◽  
Osamu Miura ◽  
Shinsaku Hirosawa ◽  
Nobuo Aoki
Keyword(s):  
Disulfide Bond ◽  
Protein C ◽  
Catalytic Domain ◽  
Point Mutations ◽  
Expression Vectors ◽  
Compound Heterozygous ◽  
Protein C Deficiency ◽  
Peptide Cleavage ◽  
Mutant Proteins ◽  
Heterozygous Protein C Deficiency

SummaryThe protein C gene in a patient apparently homozygous for protein C deficiency was analyzed. Two different point mutations, each located in a different allele, were detected to reveal that the patient is a compound heterozygote. Mutation of Arg-178 (CGG) to Gin (CAG) [mutation I] was detected in exon VII, in the vicinity of activation peptide cleavage site by thrombin. Mutation of Cys-331 (TGC) to Arg (CGC) [mutation II] was found in exon IX, at one of the sites involved in disulfide bond formation in the catalytic domain of the heavy chain. The alteration of Cys-331 to Arg disables the formation of the disulfide bond and would alter the protein conformation. Transient expression assays using COS-7 cells transfected with protein C expression vectors containing each one of these two mutations suggested that each of the two mutations would lead to the protein C deficiency by an impairment of secretion of the respective mutant proteins.

scholarly journals Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis

2014 ◽  
Vol 13 (2) ◽  
pp. 2969-2977 ◽  
Author(s):  
L.-H. Yang ◽  
M.-S. Wang ◽  
F.-X. Zheng ◽  
J. Li ◽  
Y. Chen ◽  
...  
Keyword(s):  
Protein C ◽  
Late Onset ◽  
Compound Heterozygous ◽  
Protein C Deficiency ◽  
Heterozygous Protein C Deficiency
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