Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1460 | Pituitary Clinical | ICEECE2012

Cyclin D1 gene exon 4/intron 4 region A / G polymorphism and allele ratios in patients with prolactinoma

Karkucak M. , Cander S. , Gul O Oz , Yakut T. , Erturk E.

Excessive expression of CyD1 in CCND1 gene increase G1-S phase transition and cellular proliferation. In various tumor types and of the few studies of pituitary adenomas, over expression of CyD1 or amplification in the locus of CCND1 gene, have been demonstrated. In this study, we aimed to investigate the effect of cyclin D1 gene polymorphism on tumor formation in prolactinoma patients.A hundred and thirteen patients and 108 age and gender matched contro...

ea0029p1426 | Pituitary Clinical | ICEECE2012

Comprasion of cycline D1 gene (Ccnd1) polymorphism in invasive and non-invasive prolactinomas

Cander S. , Erturk E. , Karkucak M. , Oz Gul O. , Yakut T. , Unal O. , Ersoy C. , Tuncel E. , Imamoglu S.

Cycline D1 gene that plays a crucial role in a cell cycle, have been shown to be expressed more in nonfunctioning pituitary adenomas and functioning invasive pituitary adenomas compared to normal hypophisis tissue and noninvasive pituitary adenomas. A/G polymorphism in CyD1 gene exon 4/intron 4 regions have been demonstrated to affect clinical outcomes and survey in some tumors. Objective of this study was to investigate the effect of polymorphism of cycline D1 gene on the tum...

ea0024oc2.6 | Oral Communications 2 (Brief Communications) | BSPED2010

Novel TSHR mutations in a large cohort of consanguineous families with congenital non-goitrous hypothyroidism

Cangul H , Aycan Z , Saglam H , Yakut T , Karkucak M , Bas V , Eren E , Yuca S , Demir K , Cetinkaya S , Kirby G A , Morgan N V , Forman J R , Tarim O , Bober E , Cesur Y , Kendall M , Hogler W , Barrett T G , Maher E R

Introduction: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inherita...