Association of endothelial nitric oxide synthase polymorphism G894T with functional outcome in acute stroke patients.

Objectives: Endothelial nitric oxide synthase (eNOS) G894T polymorphism has been previously associated with vascular diseases including stroke, but often with conflicting results. Experimental evidence suggests that some eNOS modalities may be important in preventing stroke, while others may be important during the dynamic inflammatory processes triggered at the acute phase of stroke. Thus, we examined the possible association of eNOS G894T variation with stroke severity and functional outcome.

Endothelial nitric oxide synthase polymorphism (G894T) and nonarteritic anterior ischemic optic neuropathy.

Nonarteritic anterior ischemic optic neuropathy (NAION) is associated with vascular risk factors and a genetic predisposition for NAION. In this study, we examined the potential association of endothelial nitric oxide synthase (eNOS) G894T polymorphism with NAION. For this, 45 patients (29 men and 16 women) and 193 controls (122 men and 71 women) were enrolled prospectively and genotyped for eNOS genes.

Association of serum and follicular fluid SHBG levels and SHBG (TAAAA)n polymorphism with follicle size in women undergoing ovarian stimulation.

Objective: Sex hormone-binding globulin (SHBG) is the main transport protein of sex steroids. Recently, it has been found to be produced by granulosa lutein cells, suggesting a local role of SHBG in the ovary. The aim of this study was to investigate whether serum and follicular fluid SHBG levels and SHBG (TAAAA)(n) polymorphism are related to follicle size and pregnancy rate in women undergoing in vitro fertilisation.

Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformations.

Experimental studies have shown that homeobox genes are essential for the development of the kidney and urinary tract. Hoxa11/Hoxd11 double mutant mice demonstrate renal agenesis or hypoplasia. Since, to our knowledge, these genes have never been examined for alterations in humans with congenital anomalies of the kidney and urinary tract (CAKUT), we investigated whether mutations of HOXA11/HOXD11 genes are associated with non-syndromal congenital renal parenchymal malformations.