Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 3, 2014, Pages

  Libri, Domenico Vladimiro ^a   Kleinau, Gunnar ^b   Vezzoli, Valeria ^c   Busnelli, Marta ^d   Guizzardi, Fabiana ^a   Sinisi, Antonio Agostino ^e   Pincelli, Angela Ida ^f   Mancini, Antonio ^g   Russo, Gianni ^h   Beck Peccoz, Paolo ^c,i   Loche, Sandro ^j   Crivellaro, Claudio ^k   Maghnie, Mohamad ^l   Krausz, Csilla ^m   Persani, Luca ^a,c   Bonomi, Marco ^a  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF MILAN   (Italy)

^d CNR   (Italy)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

^f UNIVERSITY OF MILANO BICOCCA   (Italy)

^g CATHOLIC UNIVERSITY   (Italy)

^h SAN RAFFAELE HOSPITAL   (Italy)

ⁱ Unità di Endocrinologia e Diabetologia Fondazione Policlinico Ca Granda   (Italy)

^j Osp Regionale per le Microcitemie   (Italy)

^k CENTRAL HOSPITAL OF BOLZANO   (Italy)

^l G GASLINI INSTITUTE   (Italy)

^m UNIVERSITY OF FLORENCE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; ENDOCRINE GLAND DERIVED VASCULAR ENDOTHELIAL GROWTH FACTOR; INOSITOL PHOSPHATE; PROKINETICIN RECEPTOR 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CENTRAL HYPOGONADISM; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPOGONADISM; IDIOPATHIC DISEASE; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; STOP CODON;

ADOLESCENT; ADULT; CHILD; COHORT STUDIES; CYCLIC AMP; FEMALE; GENETIC ASSOCIATION STUDIES; GERM-LINE MUTATION; HUMANS; HYPOGONADISM; INOSITOL PHOSPHATES; MALE; MIDDLE AGED; MUTATION, MISSENSE; RECEPTORS, G-PROTEIN-COUPLED; RECEPTORS, PEPTIDE; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 84895786097     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-2431     Document Type: Article

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