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• W4383218222 abstract "Abstract Unexpected poor ovarian response (UPOR) occurs when nine or fewer oocytes are retrieved from a young patient with normal ovarian reserve. Bone morphogenetic protein15 (BMP15) and Growth differentiation factor 9 (GDF9) are two oocyte-specific factors with pivotal role in folliculogenesis. The aim of this study was to assess the relation between BMP15 and GDF9 variants with UPOR. All participants were aged 39 and younger with AMH ≥1.27 IU/ml who were divided into UPOR cases and normal ovarian responders (NOR), based on their oocyte number. After genomic DNA extraction, the entire exonic regions of BMP15 and GDF9 were amplified and examined by direct sequencing. Western blotting was performed to determine the expression levels of BMP15 and GDF9 in follicular fluid. Additionally, in-silico analysis was applied to predict the effect of discovered mutations. From four novel variants, silent mutations (c.744T>C) and (c.99G>A) occurred in both groups, whereas missense variants: c.967-968insA and c.296A>G were found exclusively in UPORs. The latter variants caused reduction in protein expression. Moreover, the mutant allele (T) in a GDF9 polymorphism (C447T) found to be more in NOR individuals (58% NOR vs. 37% UPOR (OR=2.3, CI 1.32-4.11, p=0.004). The novel missense mutations which were predicted as damaging, along with other mutations that happened in UPORs might result in ovarian resistance to stimulation. The mutant allele (T) in C447T polymorphism, has a protective effect. Our study proves that BMP15 and GDF9 variants play crucial roles in follicular development and ovarian response, however further investigation is needed for related mechanisms." @default.
• W4383218222 created "2023-07-06" @default.
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• W4383218222 date "2023-07-05" @default.
• W4383218222 modified "2023-09-25" @default.
• W4383218222 title "Implication of novel BMP15 and GDF9 variants in unexpected poor ovarian response" @default.
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• W4383218222 doi "https://doi.org/10.21203/rs.3.rs-3047886/v1" @default.
• W4383218222 hasPublicationYear "2023" @default.
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