Novel splice variants of the bovine PCK1 gene.

P-127: Characterization of Filia, A Maternal Effect Gene, in Bovine Oocytes and Embryos

Background: Genetic analysis in mice has lead to find about maternal effect genes such as Filia. Filia knock out mice have a 50% decrease in fertility. Filia dysfunction causes disorders in pre-implantation development. Mutations in human Filia gene, cause FBHM (Familial Biparental Hydatidiform Mole) in women. Filia protein in mice is homologous to that of rat and human, so this idea has emerge...

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

تأثیر آدنوزین ´5تری فسفات در القای آپوپتوز و مهار بیان ژن Survivin و واریانت پیرایشی ضد آپوپتوزی SUR-3B آن در سلول های K562

Introduction: Leukemia is a heterogeneous malignant disease in which progression at the level of CD34+ cells has a major impact in drug resistance and relapse. The multi-drug resistance gene product, P-glycoprotein is an inhibitor of apoptosis proteins (IAPs), such as Survivin that are expressed simultaneously with several putative drug resistance parameters in CD34+ leukemia cells. In fact, IA...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

بررسی بیان ژن Survivin و واریانت‌های پیرایشی 2B و ΔEx3 آن به عنوان مارکرهای مولکولی تشخیصی جدید در تومورهای تیروئیدی

Evaluating the Expression of Survivin and Its Splice Variants 2B and ΔEx3 as New Diagnostic Molecular Markers in Thyroid Cancer Vandghanooni S1, Hosseinpour Feizi MA1, Babaei E1,2, Montazeri V3, Halimi M3 1 Dept of Biology, School of Nature Sciences, Tabriz University, Tabriz, Iran 2 Dept of Genetics, Faculty of Basic Sciences, Tarbiat Modarres University, Tehran, Iran 3 Imam Khomeini Hospital,...