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Example sentences for: ais
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Unsupervised hierarchical cluster analysis of genes and experiments of 9 normal genital skin fibroblast lines (penile foreskin) and 5 AIS genital skin fibroblast lines (labia majora).
We used the list of the 487 cDNAs from the SAM analysis for hierarchical clustering analysis of 24 different primary fibroblast lines from normal and AIS affected individuals (Figure 2).
Development of the male genitalia is largely controlled by cells in the urogenital mesenchyme that express androgen receptors (AR) [ 1 2 ] . Germline mutations of the AR gene produce a spectrum of developmental abnormalities in 46,XY individuals ranging from infertility or mild hypospadias to complete feminization, which are collectively referred to as the androgen insensitivity syndrome (AIS).
Several genes expressed specifically in the normal male foreskin fibroblasts have been previously implicated in male genital development, including HOXA13 , the T-box genes, BMP4 and DWnt2 . Mutations in HOXA13 can cause distal limb and urogenital-tract malformations such as male hypospadias in hand-foot-genital syndrome [ 21 ] . T-box genes ( TBX ) are essential early regulators of limb development and also appear to be involved in male genital development [ 22 23 ] . Mutations in TBX3 cause the ulnar-mammary syndrome characterized by limb, apocrine, and genital developmental abnormalities [ 23 ] . Expression of T-box genes 2, 3, and 5 was significantly higher in normal male foreskin fibroblasts than in AIS genital fibroblasts.
The latter group contained all five gonadal fibroblast lines from complete AIS females as well as the fibroblast lines from abdominal and forearm skin.
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