C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema

1993 ◽  
Vol 92 (2) ◽  
Author(s):  
Z. Siddique ◽  
A.R. McPhaden ◽  
K. Whaley
Keyword(s):  
Type Ii ◽  
C1 Inhibitor ◽  
Nucleotide Insertion ◽  
Inhibitor Gene

A human SP-C promoter fragment targets α1-proteinase inhibitor gene expression to lung alveolar type II cells in transgenic mice

1996 ◽  
Vol 5 (2) ◽  
pp. 139-143 ◽  
Author(s):  
Eric Degryse ◽  
Maria M. De Santi ◽  
Mireille Dietrich ◽  
Dalila Ali Hadji ◽  
Jean François Spetz ◽  
...  
Keyword(s):  
Gene Expression ◽  
Transgenic Mice ◽  
Proteinase Inhibitor ◽  
Alveolar Type ◽  
Type Ii Cells ◽  
Type Ii ◽  
Alveolar Type Ii Cells ◽  
Promoter Fragment ◽  
Inhibitor Gene

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

Allergy ◽  
2011 ◽  
Vol 66 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
M. F. Ferraro ◽  
A. S. Moreno ◽  
E. C. Castelli ◽  
E. A. Donadi ◽  
M. S. Palma ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Single Nucleotide ◽  
Single Nucleotide Deletion ◽  
Nucleotide Deletion ◽  
Inhibitor Gene

scholarly journals Interactions of plasma kallikrein and C1-s with normal and dysfunctional C1(-)-inhibitor proteins from patients with hereditary angioneurotic edema: analytic gel studies

Blood ◽  
1987 ◽  
Vol 69 (4) ◽  
pp. 1096-1101 ◽  
Author(s):  
VH Donaldson ◽  
CJ Wagner ◽  
B Tsuei ◽  
G Kindness ◽  
DH Bing ◽  
...  
Keyword(s):  
Complex Formation ◽  
Gel Electrophoresis ◽  
Sodium Dodecyl ◽  
Original Position ◽  
Stable Complex ◽  
Plasma Kallikrein ◽  
Type Ii ◽  
C1 Inhibitor ◽  
Angioneurotic Edema ◽  
Hereditary Angioneurotic Edema

Abstract Purified preparations of normal C1(-)-inhibitor (C1(-)-INH) formed high mol wt complexes with plasma kallikrein that were stable during sodium dodecyl sulfate (SDS)-gel electrophoresis, but most of the dysfunctional C1(-)-INH proteins isolated from plasma of patients with type II hereditary angioneurotic edema (HANE) did not. Two of eight dysfunctional C1(-)-INH proteins were cleaved to lower mol wt forms that were not seen following the reaction of normal C1(-)-INH with equimolar amounts, or less, of plasma kallikrein. Only the higher mol wt component of normal C1(-)-INH (106,000 mol wt) appeared to form a stable complex with the plasma kallikrein, whereas both the 106,000 and 96,000 mol wt forms made stable complexes with C1-s. When a preparation of normal C1(-)-INH containing a homogeneous single band of C1(-)-INH was exposed to C1-s or kallikrein, a “doublet” form evolved in which the heaviest band was in the original position of native C1(-)-INH; C1- s cleavage provided a second band of 96,000; and cleavage by kallikrein, a second band of 94,000 mol wt. We conclude that dysfunctional C1(-)-INH proteins from plasma of persons with type II hereditary angioneurotic edema have impaired interactions with plasma kallikrein and are heterogeneous with respect to these interactions. Moreover, the requirements for the formation of stable complexes between normal C1(-)-INH and plasma kallikrein differed from those for stable complex formation with C1-s. The doublet form of C1(-)-INH, which purified preparations frequently demonstrate, may be due to prior cleavage by C1-s or kallikrein.

Hereditary Angioedema: a New Mutation of the C1 Inhibitor Gene in a Brazilian Family

2008 ◽  
Vol 121 (2) ◽  
pp. S101-S101
Author(s):  
M FERRARO ◽  
W SARTI ◽  
A SOUZA ◽  
E DONADI ◽  
E CASTELLI ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
New Mutation ◽  
Inhibitor Gene

scholarly journals C1 Inhibitor Gene Sequence Facilitates Frameshift Mutations

1998 ◽  
Vol 4 (12) ◽  
pp. 795-806 ◽  
Author(s):  
John J. Bissler ◽  
Qin-Shao Meng ◽  
Theresa Emery
Keyword(s):  
Gene Sequence ◽  
C1 Inhibitor ◽  
Frameshift Mutations ◽  
Inhibitor Gene
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