A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 9, 2014, Pages E1765-E1773

  Kuppusamy, Maniselvan ^a   Caroccia, Brasilina ^a   Stindl, Julia ^b   Bandulik, Sascha ^b   Lenzini, Livia ^a   Gioco, Francesca ^a   Fishman, Veniamin ^c   Zanotti, Giuseppe ^a   Gomez Sanchez, Celso ^d   Bader, Michael ^c   Warth, Richard ^b   Rossi, Gian Paolo ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ALDOSTERONE SYNTHASE; AMLODIPINE; CALCIUM ION; CANRENONE; CAPTOPRIL; COMPLEMENTARY DNA; DOXAZOSIN; INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ3 PROTEIN; KCNJ5 POTASSIUM CHANNEL; MESSENGER RNA; MUTANT PROTEIN; NEBIVOLOL; POTASSIUM ION; SODIUM CALCIUM EXCHANGE PROTEIN; SODIUM ION; STEROID 17ALPHA MONOOXYGENASE; TELMISARTAN; THREONINE; UNCLASSIFIED DRUG; VERAPAMIL; VOLTAGE GATED CALCIUM CHANNEL; ANTIHYPERTENSIVE AGENT; G PROTEIN COUPLED INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ5 PROTEIN, HUMAN; POTASSIUM;

ADRENAL CORTEX CELL; AGED; ALDOSTERONE RELEASE; ALPHA HELIX; ARTICLE; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CELL MEMBRANE DEPOLARIZATION; CONTROLLED STUDY; CYP11B2 GENE; CYTOSOL; DNA TRANSFECTION; EMBRYO; GENE; GENE EXPRESSION; GENE INSERTION; HAC15 CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KCNJ5 GENE; MAJOR CLINICAL STUDY; MALE; MEMBRANE DEPOLARIZATION; MOLECULAR MODEL; PATIENT COMPLIANCE; PLASMA RENIN ACTIVITY; POTASSIUM CHANNELOPATHY; PRIMARY HYPERALDOSTERONISM; PROTEIN EXPRESSION; PROTEIN STRUCTURE; RESISTANT HYPERTENSION; SELECTIVITY FILTER; SITE DIRECTED MUTAGENESIS; SODIUM CALCIUM EXCHANGE; SODIUM CURRENT; SODIUM INWARD CURRENT; SOMATIC MUTATION; STEROIDOGENESIS; WHOLE CELL PATCH CLAMP; WILD TYPE; ADENOMA; ADRENAL CORTEX; ADRENAL CORTEX ADENOMA; CELL LINE; CYTOLOGY; DRUG RESISTANCE; GENETICS; HYPERALDOSTERONISM; HYPERTENSION; METABOLISM; POINT MUTATION; SECRETION (PROCESS);

ADENOMA; ADRENAL CORTEX; ADRENOCORTICAL ADENOMA; AGED; ALDOSTERONE; ANTIHYPERTENSIVE AGENTS; CELL LINE; DRUG RESISTANCE; G PROTEIN-COUPLED INWARDLY-RECTIFYING POTASSIUM CHANNELS; HUMANS; HYPERALDOSTERONISM; HYPERTENSION; MALE; POINT MUTATION; POTASSIUM;

EID: 84907192043     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1927     Document Type: Article

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