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MAMLD1 encodes a mastermind-like domain containing protein. Zusätzlich bieten wir Ihnen Mastermind-Like Domain Containing 1 Proteine (4) und Mastermind-Like Domain Containing 1 Kits (2) und viele weitere Produktgruppen zu diesem Protein an.
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Study provides evidence that MAMLD1 transcription is up-regulated in patients with 46,XX testicular and ovotesticular disorders of sex development.
occurrence of MAMDL1 gene polymorphisms, specially of c.2960C>T in 3' UTR (zeige UTS2R Antikörper) of its exon 7 is associated with a higher risk of isolated hypospadias in Indian children, probably by lowering androgenic levels
These results imply that the pathogenic events resulting from MAMLD1 mutations include splice errors.
MAMLD1 sequence variations may not suffice to explain the phenotype in carriers and MAMLD1 may also have a role in adult life
The single-nucleotide polymorphisms of MAMLD1 bear no obvious correlation with hypospadias, and MAMLD1 is not a candidate gene in its pathogenesis in the Chinese population.
MAMLD1 mutations cause 46,XY disorders of sex development primarily because of compromised testosterone production around critical period for sex development; in addition, SNP in MAMLD1 may constitute a susceptibility factor for hypospadia. [REVIEW]
Data suggest that MAMLD1 should be routinely sequenced in 46,XY disorders of sex development (DSD (zeige FADS1 Antikörper)) patients with otherwise normal AR, SRD5A2 (zeige SRD5A2 Antikörper) and NR5A1 (zeige NR5A1 Antikörper) genes.
mutational analysis of the MAMLD1-gene in hypospadias
The identification and genomic characterization of the F18 (MAMLD1) gene in human
Deletion of the F18 (MAMLD1) and MTM1 (zeige MTM1 Antikörper) genes in two patients with congenital myopathy and hypospadias
MAMLD1 likely participates in functional luteolysis by regulating Stat5b (zeige STAT5B Antikörper) and other genes, independent of the PGF2alpha signaling pathway.
Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development
Mamld1 enhances Cyp17a1 (zeige CYP17A1 Antikörper) expression primarily in Leydig cells and permit to produce a sufficient amount of testosterone for male sex development, independently of the Hes3 (zeige HES3 Antikörper)-related non-canonical Notch (zeige NOTCH1 Antikörper) signaling
CXorf6 transactivates the Hes3 (zeige HES3 Antikörper) promoter, augments testosterone production
This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants.
mastermind-like domain-containing protein 1