Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 1, 2011, Pages

  Hirsch, Andrea ^a   Meimaridou, Eirini ^b   Fernandez Cancio, Monica ^c   Pandey, Amit V ^a   Clemente, María ^c   Audi, Laura ^c   Clark, Adrian J L ^b   Flück, Christa E ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; BENZYLOXYCARBONYLLEUCYLLEUCYLLEUCINAL; CORTICOTROPIN; ELECTROLYTE; GLUCOCORTICOID; HYDROCORTISONE; MELANOCORTIN 2 RECEPTOR; MINERALOCORTICOID;

ADULT; ARTICLE; BIRTH WEIGHT; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL MEMBRANE; CELL STRAIN HEK293; CELL SURFACE; CHILD; CORTICOTROPIN BLOOD LEVEL; CORTICOTROPIN DEFICIENCY; ENDOPLASMIC RETICULUM; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLUCOSE HOMEOSTASIS; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE SUBSTITUTION; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; HYPOGLYCEMIA; HYPONATREMIA; IMMUNOFLUORESCENCE; IMMUNOPRECIPITATION; INFANT; MALE; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; RNA TRANSLATION; SEIZURE; URINARY TRACT INFECTION; WESTERN BLOTTING;

EID: 78650911659     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1056     Document Type: Article

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