Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome

Human Molecular Genetics

Volumn 15, Issue 24, 2006, Pages 3538-3543

  Rey, Rodolfo A ^a,b   Venara, Marcela ^a   Coutant, Régis ^c   Trabut, Jean Baptiste ^d   Rouleau, Stéphanie ^c   Lahlou, Najiba ^e   Sultan, Charles ^f   Limal, Jean Marie ^c   Picard, Jean Yves ^d   Lumbroso, Serge ^f,g  

^a HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d INSERM   (France)

^e Centre Hospitalier Universitaire Cochin Saint Vincent de Paul ^*  (France)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

^g NÎMES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; MUELLERIAN INHIBITING FACTOR; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ALBRIGHT SYNDROME; ARTICLE; CELL FUNCTION; CELL HYPERPLASIA; CELL LINEAGE; CHILD; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN TISSUE; LEYDIG CELL; MACROORCHIDISM; MALE; PATHOPHYSIOLOGY; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SERTOLI CELL; SEX CHROMOSOME MOSAICISM; SPERMATOGENESIS; TESTICULAR ENLARGEMENT; TESTIS BIOPSY;

BASE SEQUENCE; CELL LINE; CHILD; CHILD, PRESCHOOL; FIBROUS DYSPLASIA, POLYOSTOTIC; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; LEYDIG CELLS; LUCIFERASES; MALE; MODELS, BIOLOGICAL; MOSAICISM; MUTATION; PROMOTER REGIONS (GENETICS); PUBERTY, PRECOCIOUS; RECOMBINANT FUSION PROTEINS; SERTOLI CELLS; SIGNAL TRANSDUCTION; TESTIS; TRANSFECTION;

EID: 33845363779     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl430     Document Type: Article

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