BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

Human Mutation

Volumn 30, Issue 5, 2009, Pages 804-810

  Rossetti, Raffaella ^a,b   Pasquale, Elisa Di ^a,b   Marozzi, Anna ^a   Bione, Silvia ^c   Toniolo, Daniela ^d   Grammatico, Paola ^e   Nelson, Lawrence M ^f   Beck Peccoz, Paolo ^a,g   Persani, Luca ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^c CNR   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

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

^g FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

BMP15; Female fertility; Folliculogenesis; Ovary; POI; Premature ovarian failure; Primary ovarian insufficiency; X chromosome

Indexed keywords

BONE MORPHOGENETIC PROTEIN 15; COMPLEMENTARY DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DNA TRANSFECTION; FEMALE; GENE INSERTION; GENETIC VARIABILITY; GRANULOSA CELL; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREMATURE OVARIAN FAILURE; PRIMARY AMENORRHEA; PRIMARY OVARIAN INSUFFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD; SECONDARY AMENORRHEA;

ADOLESCENT; ADULT; BONE MORPHOGENETIC PROTEIN 15; CELL LINE; CHILD; COMPUTATIONAL BIOLOGY; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENES, REPORTER; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LUCIFERASES; MUTANT PROTEINS; MUTATION; OVARIAN DISEASES; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 66749092996     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20961     Document Type: Article

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