a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

scientific article published on 13 September 2013

a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.1210/JC.2013-2428
P932PMC publication ID3816265
P698PubMed publication ID24037882

P50authorRichard WarthQ42669471
Silvia MonticoneQ57014678
Carlos M. IsalesQ64785229
William RaineyQ117484435
P2093author name stringMichael A Edwards
Paolo Mulatero
Christina Sterner
David Penton
Tracy A Williams
Namita G Hattangady
P2860cites workKCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial HyperaldosteronismQ56964322
Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.Q35787055
Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesisQ35872767
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertensionQ36019674
Effect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cells.Q36134732
A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertensionQ36134787
A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronismQ36834983
Role of KCNJ5 in familial and sporadic primary aldosteronismQ38066356
P433issue11
P407language of work or nameEnglishQ1860
P921main subjectFamilial hyperaldosteronismQ25339349
P304page(s)E1861-5
P577publication date2013-09-13
P1433published inThe Journal of Clinical Endocrinology and MetabolismQ3186902
P1476titlea Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
P478volume98

Reverse relations

cites work (P2860)
Q42733134A Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushing's Syndrome
Q34810955A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue
Q34130908A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium
Q38208961Aldosterone excess and resistant hypertension: investigation and treatment
Q35989831Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands
Q37604722CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism
Q42380819Channels and pumps in aldosterone-producing adenomas
Q51356334Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3.
Q90656393Familial hyperaldosteronism type III a novel case and review of literature
Q39266522Familial hyperaldosteronism type III.
Q26998759Genetic alterations in primary aldosteronism
Q91151360Genetic causes of primary aldosteronism
Q38823256Hyperaldosteronism: How to Discriminate Among Different Disease Forms?
Q28088772Insights from exome sequencing for endocrine disorders
Q38217762Inward-rectifying potassium channelopathies: new insights into disorders of sodium and potassium homeostasis
Q89460183Molecular and Electrophysiological Analyses of ATP2B4 Gene Variants in Bilateral Adrenal Hyperaldosteronism
Q37265290Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production
Q91962435Na/K Pump Mutations Associated with Primary Hyperaldosteronism Cause Loss of Function
Q39013180Of channels and pumps: different ways to boost the aldosterone?
Q33575337Overview of the genetic determinants of primary aldosteronism
Q98158788Pathogenesis and treatment of primary aldosteronism
Q36152023Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients
Q30248429Primary Aldosteronism: Changing Definitions and New Concepts of Physiology and Pathophysiology Both Inside and Outside the Kidney
Q90612323Primary aldosteronism diagnostics: KCNJ5 mutations and hybrid steroid synthesis in aldosterone-producing adenomas
Q37699206Recent genetic discoveries implicating ion channels in human cardiovascular diseases
Q36344677The Challenges of Arterial Hypertension
Q35597757Two-pore domain potassium channels in the adrenal cortex
Q34850075Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.

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