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- W2330659844 abstract "<i>MAMLD1</i> (mastermind-like domain containing 1) is a recently discovered causative gene for 46,XY disorders of sex development (DSD), with hypospadias as the salient clinical phenotype. To date, microdeletions involving <i>MAMLD1</i> have been identified in six patients, and definitive mutations (nonsense and frameshift mutations that are predicted to undergo nonsense mediated mRNA decay [NMD]) have been found in six patients. In addition, specific <i>MAMLD1</i> cSNP(s) and haplotype may constitute a susceptibility factor for hypospadias. Furthermore, in vitro studies have revealed that (1) the mouse homolog is expressed in fetal Sertoli and Leydig cells around the critical period for sex development; (2) transient <i>Mamld1</i> knockdown results in significantly reduced testosterone production primarily because of compromised 17α-hydroxylation and <i>Cyp17a1</i> expression in Murine Leydig tumor cells; (3) MAMLD1 localizes to the nuclear bodies and transactivates the promoter activity of a non-canonical Notch target gene hairy/enhancer of split 3, without demonstrable DNA-binding capacity; and (4) <i>MAMLD1</i> is regulated by steroidogenic factor 1 (SF1). These findings suggest that the <i>MAMLD1</i> mutations cause 46,XY DSD primarily because of compromised testosterone production around the critical period for sex development. Further studies will provide useful information for the molecular network involved in fetal testosterone production." @default.
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- W2330659844 date "2012-10-08" @default.
- W2330659844 modified "2023-10-16" @default.
- W2330659844 title "MAMLD1 and 46,XY Disorders of Sex Development" @default.
- W2330659844 doi "https://doi.org/10.1055/s-0032-1324725" @default.
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