EXAMINATION OF CHROMOSOME 7p22 CANDIDATE GENES RBaK, PMS2 AND GNA12 IN FAMILIAL HYPERALDOSTERONISM TYPE II
YWA Jeske, A So, L Kelemen, N Sukor… - Clinical and …, 2008 - Wiley Online Library
SUMMARY 1 There are two types of familial hyperaldosteronism (FH): FH‐I and FH‐II. FH‐I
is caused by a hybrid CYP11B1/CYP11B2 gene mutation. The genetic cause of FH‐II, which …
is caused by a hybrid CYP11B1/CYP11B2 gene mutation. The genetic cause of FH‐II, which …
New genetic insights in familial hyperaldosteronism
RV Jackson, A Lafferty, DJ Torpy… - Annals of the New York …, 2002 - Wiley Online Library
Aldosterone, the major circulating mineralocorticoid, particiates in blood volume and serum
potassium homeostasis. Primary aldosteronism is a disorder characterized by hypertension …
potassium homeostasis. Primary aldosteronism is a disorder characterized by hypertension …
[引用][C] No evidence for coding region mutations in the retinoblastoma‐associated Kruppel‐associated box protein gene (RBaK) causing familial hyperaldosteronism …
A So, YWA Jeske, RD Gordon, D Duffy… - Clinical …, 2006 - Wiley Online Library
Recent studies have indicated that as much as 5–10% of hypertension may be attributable
to primary aldosteronism (PAL), and most patients lack hypokalaemia. 1 Familial …
to primary aldosteronism (PAL), and most patients lack hypokalaemia. 1 Familial …
Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity
A So, DL Duffy, RD Gordon, YWA Jeske… - Journal of …, 2005 - journals.lww.com
Background Familial hyperaldosteronism type II (FH-II) is characterized by the familial
occurrence of primary aldosteronism; unlike FH-I, it is not glucocorticoid-remediable and not …
occurrence of primary aldosteronism; unlike FH-I, it is not glucocorticoid-remediable and not …
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene
DJ Torpy, RD Gordon, JP Lin… - The Journal of …, 1998 - academic.oup.com
Familial hyperaldosteronism type II (FH-II) is characterized by autosomal dominant
inheritance and hypersecretion of aldosterone due to adrenocortical hyperplasia or an …
inheritance and hypersecretion of aldosterone due to adrenocortical hyperplasia or an …
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)
AR Lafferty, DJ Torpy, M Stowasser… - Journal of medical …, 2000 - jmg.bmj.com
Familial hyperaldosteronism type II (FH-II) is caused by adrenocortical hyperplasia or
aldosteronoma or both and is frequently transmitted in an autosomal dominant fashion …
aldosteronoma or both and is frequently transmitted in an autosomal dominant fashion …
Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II
KJ Carss, M Stowasser, RD Gordon… - Journal of human …, 2011 - nature.com
Familial hyperaldosteronism type II (FH-II) is an inherited form of hyperaldosteronism
associated with hypertension in most patients. The mutations that cause FH-II are unknown …
associated with hypertension in most patients. The mutations that cause FH-II are unknown …
Genomic structure of the human gene for protein kinase A regulatory subunit R1‐beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism …
MS Elphinstone, RD Gordon, A So… - Clinical …, 2004 - Wiley Online Library
Summary objective Familial hyperaldosteronism type II (FH‐II) is characterized by
inheritance of primary aldosteronism (PAL) but, unlike FH‐I, is not glucocorticoid remediable …
inheritance of primary aldosteronism (PAL) but, unlike FH‐I, is not glucocorticoid remediable …
Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by …
F Fallo, C Pilon, L Barzon, M Pistorello… - Journal of human …, 2004 - nature.com
The genetic basis of a familial form of primary aldosteronism, that is glucocorticoid-
remediable aldosteronism (GRA) or familial hyperaldosteronism type I (FH-I), has been …
remediable aldosteronism (GRA) or familial hyperaldosteronism type I (FH-I), has been …
Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by …
E Chung, A Hanukoglu, M Rees… - The Journal of …, 1995 - academic.oup.com
Abstract Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder
characterized by salt-wasting in infancy arising from target organ unresponsiveness to …
characterized by salt-wasting in infancy arising from target organ unresponsiveness to …
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