scholarly journals Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II

2010 ◽  
Vol 25 (9) ◽  
pp. 560-564 ◽  
Author(s):  
K J Carss ◽  
M Stowasser ◽  
R D Gordon ◽  
K M O'Shaughnessy
Keyword(s):  
Molecular Basis ◽  
Type Ii ◽  
Familial Hyperaldosteronism

Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families

2008 ◽  
Vol 26 (8) ◽  
pp. 1577-1582 ◽  
Author(s):  
Norlela Sukor ◽  
Paolo Mulatero ◽  
Richard D Gordon ◽  
Albertina So ◽  
David Duffy ◽  
...  
Keyword(s):  
South American ◽  
Type Ii ◽  
Familial Hyperaldosteronism ◽  
American Families

The Molecular Basis of Antithrombin Deficiency in Belgian and Dutch Families

1998 ◽  
Vol 80 (09) ◽  
pp. 376-381 ◽  
Author(s):  
W. Lissens ◽  
S. Seneca ◽  
P. Capel ◽  
B. Chatelain ◽  
P. Meeus ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Gene Deletion ◽  
Direct Sequencing ◽  
Genetic Defect ◽  
Polymorphism Analysis ◽  
Type I ◽  
Type Ii ◽  
Antithrombin Deficiency ◽  
Venous Thromboembolic Events ◽  
At Deficiency

SummaryThe molecular basis of hereditary antithrombin (AT) deficiency has been investigated in ten Belgian and three Dutch unrelated kindreds. Eleven of these families had a quantitative or type I AT deficiency, with a history of major venous thromboembolic events in different affected members. In the other two families a qualitative or type II AT deficiency was occasionally diagnosed.DNA studies of the AT gene were performed, using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis, followed by direct sequencing of the seven exons and intronexon junction regions. Six novel point mutations were identified: four missense, one nonsense mutation and a single nucleotide deletion near the reactive site, causing a frameshift with premature translation termination. In two kindreds the underlying genetic defect was caused by a whole gene deletion, known as a rare cause of AT deficiency. In these cases, Southern blot and polymorphism analysis of different parts of the AT gene proved useful for diagnosis. In another kindred a partial gene deletion spanning 698 basepairs could precisely be determined to a part of intron 3B and exon 4. In two type I and in both type II AT deficient families a previously reported mutation was identified. In all cases, the affected individuals were heterozygous for the genetic defect.

Vitamin D-dependent rickets type II: Studies of the molecular basis of the disease using cultured skin fibroblasts

Bone ◽  
1985 ◽  
Vol 6 (1) ◽  
pp. 55-56
Author(s):  
L.J. Fraher ◽  
G.N. Hendy ◽  
H. Jani ◽  
L. Nicholson ◽  
F.R.J. Hinde ◽  
...  
Keyword(s):  
Vitamin D ◽  
Molecular Basis ◽  
Skin Fibroblasts ◽  
Type Ii ◽  
Cultured Skin

scholarly journals Familial Hyperaldosteronism Type II: Description of a Large Kindred and Exclusion of the Aldosterone Synthase (CYP11B2) Gene1

1998 ◽  
Vol 83 (9) ◽  
pp. 3214-3218 ◽  
Author(s):  
David J. Torpy ◽  
Richard D. Gordon ◽  
Jing Ping Lin ◽  
Phillip R. Huggard ◽  
Susan E. Taymans ◽  
...  
Keyword(s):  
Type Ii ◽  
Aldosterone Synthase ◽  
Familial Hyperaldosteronism

1.2 Molecular basis for hypertension in the type II variant of apparent mineralocorticoid excess

1997 ◽  
Vol 15 (12) ◽  
pp. 1529-1530
Author(s):  
A Li ◽  
R Tedde ◽  
M Palermo ◽  
C H.L. Shackleton ◽  
P M. Stewart
Keyword(s):  
Molecular Basis ◽  
Type Ii ◽  
Apparent Mineralocorticoid Excess

scholarly journals The Molecular Basis for Hereditary Porcine Membranoproliferative Glomerulonephritis Type II

2002 ◽  
Vol 161 (6) ◽  
pp. 2027-2034 ◽  
Author(s):  
Guido A. Hegasy ◽  
Tamara Manuelian ◽  
Kolbjorn Hogasen ◽  
Johan H. Jansen ◽  
Peter F. Zipfel
Keyword(s):  
Molecular Basis ◽  
Membranoproliferative Glomerulonephritis ◽  
Type Ii

A large Alu -mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII)

1999 ◽  
Vol 104 (1) ◽  
pp. 94-98 ◽  
Author(s):  
M. L. Huie ◽  
A. L. Shanske ◽  
J. S. Kasper ◽  
R. W. Marion ◽  
R. Hirschhorn
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Basis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii
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