ARMC5 mutations in a large cohort of primary macronodular adrenal hyperplasia: Clinical and functional consequences

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 6, 2015, Pages E926-E935

  Espiard, Stéphanie ^a,b,c   Drougat, Ludivine ^a,b,c   Libé, Rossella ^a,b,c,d   Assié, Guillaume ^a,b,c,d   Perlemoine, Karine ^a,b,c   Guignat, Laurence ^d   Barrande, Gaelle ^e   Brucker Davis, Françoise ^f   Doullay, Françoise ^g   Lopez, Stephanie ^h   Sonnet, Emmanuel ⁱ   Torremocha, Florence ^j   Pinsard, Denis ^k   Chabbert Buffet, Nathalie ^l   Raffin Sanson, Marie Laure ^m   Groussin, Lionel ^a,b,c,d   Borson Chazot, Françoise ⁿ   Coste, Joël ^o,p   Bertagna, Xavier ^d   Stratakis, Constantine A ^q   Beuschlein, Felix ^r   Ragazzon, Bruno ^a,b,c   Bertherat, Jérôme ^a,b,c,d   more..

^a INSTITUT COCHIN   (France)

^b CNRS   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d Hôpital Cochin ^*  (France)

^e Hospital of Orleans   (France)

^f UNIVERSITY HOSPITAL OF NICE   (France)

^g HÔPITAL NORD   (France)

^h LIMOGES UNIVERSITY HOSPITAL   (France)

ⁱ SERVICE DE RHUMATOLOGIE   (France)

^j POITIERS UNIVERSITY HOSPITAL   (France)

^k SERVICE DE RHUMATOLOGIE   (France)

^l HÔPITAL TENON   (France)

^m LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

ⁿ UNIVERSITÉ DE LYON   (France)

^o ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^p UNIVERSITÉ DE LORRAINE   (France)

^q EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^r LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ANDROGEN; CORTICOTROPIN; DEXAMETHASONE; GONADORELIN; HYDROCORTISONE; HYDROXYPROGESTERONE; MEMBRANE PROTEIN; METOCLOPRAMIDE; MINERALOCORTICOID; PRASTERONE SULFATE; PROTEIN ARMC5; RENIN; UNCLASSIFIED DRUG; ARMC5 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADRENAL HYPERPLASIA; ADRENALECTOMY; ADULT; AGED; APOPTOSIS; ARMC5 GENE; ARTICLE; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CUSHING SYNDROME; DEXAMETHASONE SUPPRESSION TEST; DIABETES MELLITUS; DISEASE SEVERITY; DNA EXTRACTION; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HYDROCORTISONE BLOOD LEVEL; HYDROCORTISONE URINE LEVEL; HYPERCORTISOLISM; HYPERTENSION; HYPOKALEMIA; IMMUNOFLUORESCENCE; IN VITRO STUDY; MACRONODULAR ADRENAL HYPERPLASIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; ORGAN WEIGHT; PREVALENCE; PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; ADRENAL CORTEX DISEASES; ADRENAL GLAND; CELL CULTURE; GENETIC ASSOCIATION; GENETICS; HELA CELL LINE; HYPERPLASIA; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADRENAL CORTEX DISEASES; ADRENAL GLANDS; ADULT; AGED; CELLS, CULTURED; COHORT STUDIES; CUSHING SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HELA CELLS; HUMANS; HYPERPLASIA; MALE; MIDDLE AGED; MUTATION, MISSENSE; TUMOR SUPPRESSOR PROTEINS;

EID: 84930794920     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-4204     Document Type: Article

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