Amaç: Gorlin Sendromu (OMIM #109400), bazal hücreli karsinomalar (BHK), iskelet anomalileri ve çenede gözlenen çok sayıdaki kistlerle karakterize otozomal dominant kalıtımlı nadir bir hastalıktır. Sendromunun %50-85’inden PTCH1 genindeki mutasyonlar sorumludur. Bu çalışmada klinik olarak tanısı düşünülen hastalarda yapılmış gen dizi analizlerinin retrospektif değerlendirilmesi varyant saptanan ...

Introduction: Patients with nevoid basal cell carcinoma syndrome (NBCCS), also termed Gorlin syndrome, develop numerous carcinomas (BCCs). Current treatment options include systemic hedgehog pathway inhibitors, significant side effects when used long term, and multiple surgeries the risk of scarring sometimes even disfigurement over term. We have developed an intralesional for BCC based on intr...

objective: basal cell carcinoma (bcc) is the most common human malignant neoplasm which is more frequent in white individuals. ptch and p53 are two major tumor suppressor genes which play important roles in pathogenesis of bcc. ptch is a twelve-pass transmembrane protein. it is an essential component of the sonic hedgehog signaling pathway that plays as a receiving receptor for members of the h...

Abstract Background and Aims Chronic kidney disease (CKD) is an independent cardiovascular risk factor. The initial mechanisms of myocardial remodeling (MR) in CKD are poorly understood. major developmental signaling pathways Notch, Hedgehog, Wnt, Bmp seem to be involved many crucial steps MR (cardiomyocytes survival regeneration, fibrotic response, angiogenesis), while their role due was not p...