Introduction Loss of heterozygosity at chromosome 10q23–25 and allelic loss of the PTEN gene is frequently observed in prostate tumors, which suggests that this locus is a target of inactivation. PTEN, a tumor suppressor gene, encodes a dual-specificity phosphatase whose primary function appears to be the dephosphorylation of the second messenger PIP3 (1). The absence of PTEN expression in pros...

OBJECTIVE The aim was to analyze the early postnatal changes in myocardial density, subsarcolemmal localization and isoform expression of dihydropyridine receptors in rat ventricle and the influence of thyroid status on these changes. METHODS Newborn rats were treated from postnatal day 2 with L-triiodothyronine (T3) or 6-n-propyl-2-thiouracil )PTU) and ventricles were collected on day 1, 7 a...

Association of PTEN Gene Polymorphisms, Protein Levels and Endometrial Cancer: A Hospital-Based Case-Control Study 
 Emine Yagci1, Hikmet Melike Ozturk1, Tufan Oge2, Cansu Ozbayer3, Hulyam Kurt1
 0000-0003-2179-1318, 0000-0002-1951-9713,0000-0002-1120-1874, 0000-0003-2433-9925
 1Eskisehir Osmangazi University, Faculty Medicine, Department Medical Biology, Eskisehir, Turkey.
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BACKGROUND Fanconi anemia complementation group C and Bloom syndrome, rare autosomal recessive disorders marked by chromosome instability, are especially prevalent in the Ashkenazi* Jewish community. A single predominant mutation for each has been reported in Ahshkenazi Jews: c.711+4A-->T (IVS4 +4 A-->T) in FACC and BLM(Ash) in Bloom syndrome. Individuals affected by either of these syndromes a...

Sexual dimorphism in blood pressure (BP) regulation has been observed both in humans and experimental animals, and estrogens have been shown to contribute to this epidemiological observation. A key enzyme in determining estrogen levels is aromatase cytochrome P450. The aim of this study was to evaluate the role of the gene encoding aromatase, CYP19A1, as an independent risk factor for hypertens...

OBJECTIVE Current studies of newborn screening for Fabry disease in Taiwan have revealed a remarkably high prevalence of cardiac-type Fabry disease with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). DESIGN Retrospective cohort study. SETTING Tertiary medical centre. PARTICIPANTS 21 patients with cardiac-type Fabry disease (15 men and 6 women) as well as 15 patients with class...

The tumour suppressor gene PTEN/MMAC1/TEP1 has been implicated in a variety of human cancers and several inherited hamartoma tumour syndromes, including Cowden syndrome, which has a high risk of breast and thyroid cancer. We have previously reported that overexpression of PTEN in MCF-7 breast cancer cells induces cell cycle arrest and apoptosis. In this study, we analysed PTEN status at both th...

Background: Polycystic kidney disease (PKD) is a systemic disorder which adds majority of renal patients to end stage renal disease. Autosomal dominant polycystic kidney disease (ADPKD) is more prevalent and leading cause of dialysis and kidney transplant. Linkage analysis revealed some closely linked loci two of which are identified as PKD1, PKD2 and an unidentified locus to ADPKD. Methods: Th...

The growth hormone 1 (GH1)/insulin-like growth factor I (IGF-I) axis plays an important role in the development of breast cancer. By binding to its receptor, GH1 stimulates the production of IGF-I and its binding protein IGFBP3, resulting in the regulation of cell proliferation, differentiation and apoptosis. The GH1 gene expression is regulated by a highly polymorphic proximal promoter and a d...

BACKGROUND AND AIMS Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disorder, caused by deficient activity of glucose-6-phosphatase-α. It produces fasting induced hypoglycemia and hepatomegaly, usually manifested in the first semester of life. Besides, it is also associated with growth delay, anemia, platelet dysfunction, osteopenia and sometimes osteoporosis. Hyperlipidemia and h...