scholarly journals PROC Gene

2020 ◽  
Author(s):  
Keyword(s):  
Proc Gene

Identification of an intronic regulatory element in the human protein C ( PROC) gene

2000 ◽  
Vol 107 (5) ◽  
pp. 458-465 ◽  
Author(s):  
K. Shamsher ◽  
A. Chuzhanova ◽  
Brad Friedman ◽  
A. Scopes ◽  
Anwar Alhaq ◽  
...  
Keyword(s):  
Protein C ◽  
Regulatory Element ◽  
Human Protein ◽  
Proc Gene

Protein C deficiency; PROC gene variants in a Danish population

2020 ◽  
Vol 185 ◽  
pp. 153-159
Author(s):  
Anne Winther-Larsen ◽  
Alisa D. Kjaergaard ◽  
Ole H. Larsen ◽  
Anne-Mette Hvas ◽  
Peter H. Nissen
Keyword(s):  
Protein C ◽  
Gene Variants ◽  
Danish Population ◽  
Protein C Deficiency ◽  
Proc Gene

Polymorphic variation in the human protein C (PROC) gene promoter can influence transcriptional efficiency in vitro

1995 ◽  
Vol 6 (4) ◽  
pp. 317-321 ◽  
Author(s):  
D. Scopes ◽  
L-P. Berg ◽  
M. Krawczak ◽  
V. V. Kakkar ◽  
D. N. Cooper
Keyword(s):  
Protein C ◽  
Gene Promoter ◽  
Human Protein ◽  
Polymorphic Variation ◽  
Proc Gene

Protein C (PROC) gene mutations in two Indian families with purpura fulminans

2010 ◽  
Vol 89 (8) ◽  
pp. 835-836 ◽  
Author(s):  
Navin Pai ◽  
Shrimati Shetty ◽  
Kanjaksha Ghosh
Keyword(s):  
Protein C ◽  
Purpura Fulminans ◽  
Gene Mutations ◽  
Proc Gene

Acroangiodermatitis of Mali in Protein C Deficiency Due to a Novel PROC Gene Mutation

2012 ◽  
Vol 34 (2) ◽  
pp. e19-e21 ◽  
Author(s):  
Aaron Wei-Min Tan ◽  
Joyce Siong-See Lee ◽  
Zacharias A. D. Pramono ◽  
Wei-Sheng Chong
Keyword(s):  
Gene Mutation ◽  
Protein C ◽  
Protein C Deficiency ◽  
Proc Gene

scholarly journals R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese

2004 ◽  
Vol 76 (1) ◽  
pp. 8-13 ◽  
Author(s):  
Woei Tsay ◽  
Ming-Ching Shen
Keyword(s):  
Proc Gene

Three novel PROC gene lesions causing protein C deficiency

2008 ◽  
Vol 54 (3) ◽  
pp. 231-233 ◽  
Author(s):  
PJ Hallam ◽  
P. Mannucci ◽  
A. Tripodi ◽  
D. Bevan ◽  
B. Lawsen ◽  
...  
Keyword(s):  
Protein C ◽  
Protein C Deficiency ◽  
Proc Gene

A novel frameshift mutation Gly239Serfs*8 in the PROC gene results in protein C deficiency in a Korean patient

2012 ◽  
Vol 91 (11) ◽  
pp. 1829-1830 ◽  
Author(s):  
Sang Hyuk Park ◽  
Seongsoo Jang ◽  
Hye-Kyung Yang ◽  
Hyoeun Shim ◽  
Chan-Jeoung Park ◽  
...  
Keyword(s):  
Protein C ◽  
Frameshift Mutation ◽  
Protein C Deficiency ◽  
Korean Patient ◽  
Proc Gene

scholarly journals Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation

Blood ◽  
1996 ◽  
Vol 87 (9) ◽  
pp. 3731-3737 ◽  
Author(s):  
CJ Formstone ◽  
PJ Hallam ◽  
EG Tuddenham ◽  
J Voke ◽  
M Layton ◽  
...  
Keyword(s):  
Protein C ◽  
Antenatal Diagnosis ◽  
Umbilical Vein ◽  
Molecular Genetic ◽  
Protein S ◽  
Maternal Circulation ◽  
Protein C Deficiency ◽  
Genotypic Analysis ◽  
The Family ◽  
Proc Gene

Molecular genetic and phenotypic analyses were performed in a highly unusual case of combined protein S and protein C deficiency manifesting in a family in which a child had died perinatally from renal vein thrombosis. Antenatal diagnosis in a second pregnancy was initially performed by indirect restriction fragment length polymorphism (RFLP) tracking using a neutral dimorphism within the PROS gene and served to exclude severe protein S deficiency. Am umbilical vein blood sample at 22 weeks gestation showed isolated protein C deficiency. This pregnancy proceeded to a full-term delivery without thrombotic complications. Molecular genetic analysis of the PROC and PROS gene segregating in the family then yielded one PROC gene lesion in the father and two PROS gene lesions, one in each parent. These lesions were shown to segregate with the respective deficiency states through the family pedigree. Analysis of DNA from paraffin-embedded liver tissue taken from the deceased child showed the presence of both PROS mutations, as well as the PROC mutation. Genotypic analysis of the second child showed a PROC mutation, but neither PROS mutation consistent with its possession of normal protein S levels and a low/borderline protein C level. Antenatal diagnosis was then performed in a third pregnancy by direct mutation detection. However, although the fetus carried only the paternal PROS and PROC gene lesions, the child developed renal thrombosis in utero. It may be that a further genetic lesion at a third locus still remains to be defined. Alternatively, the intrauterine development of thrombosis in this infant could have been caused, at least in part by a transplacental thrombotic stimulus arising in the protein S-deficient maternal circulation. This analysis may, therefore, serve as a warning against extrapolating too readily from genotype to phenotype in families with a complex thrombotic disorder.

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