V617F Mutation in Endothelial Cells of Patients with Atherosclerotic Carotid Disease.

Objective: It has been shown that clonal mutations occur in hematopoietic stem cells with advancing age and increase the risk of death due to atherosclerotic vascular diseases, similarly to myeloproliferative neoplasms. Endothelial cells (ECs) and hematopoietic stem cells develop from common stem cells called hemangioblasts in the early embryonic period. However, the presence of hemangioblasts in the postnatal period is controversial.

Assessment of the Role of Nuclear ENDOG Gene and mtDNA Variations on Paternal Mitochondrial Elimination (PME) in Infertile Men: An Experimental Study.

In humans and most animals, maternal inheritance of mitochondria and mitochondrial DNA (mtDNA) is considered as an universal assumption. Recently, several lines of evidence suggest that different species seem to employ distinct mechanisms to prevent the inheritance of paternal mtDNA. There are few studies in the literature on the molecular basis of sperm mtDNA elimination in mammals and paternal mtDNA transmission in humans.

The genomic analysis of endometrial mitochondrial DNA copy number variation on recurrent implantation failure.

Objective: Aim of this study was to define the relationship between RIF (Recurrent Implantation Failure) and endometrial mtDNA copy number.

Study Design: A total of 50 women of reproductive age including twenty-five patients clinically diagnosed with RIF and twenty-five fertile women as healthy controls were recruited into the study. Endometrial biopsy samples were obtained with a pipelle at the 20-24 days of the menstrual cycle of each participant.

Investigation of human paternal mitochondrial DNA transmission in ART babies whose fathers with male infertility.

Objective: To investigate the paternal mitochondrial DNA's effect on assisted reproductive technology (ART) applications and possible paternal mitochondrial DNA transmission in male factor infertility diagnosed fathers.

Study Design: Study group was designed according to the families all of which applied to assisted reproductive technologies as a result of male infertility. A total of 16 trios (48 mother-father-child samples) which contain 7 newborns and 9 infants born by in vitro fertilization method (IVF-ICSI) were studied using "Illumina, MiSeq" next-generation sequencing platform (Case-parent trio study).

The significance of MUM1/IRF4 protein expression and IRF4 translocation of CD30(+) cutaneous T-cell lymphoproliferative disorders: a study of 53 cases.

Current laboratory technics, clinicopathologic findings cannot always reliably distinguish primary cutaneous CD30(+) lymphoproliferative disorders (LPD), such as lymphomatoid papulosis (LyP), primary cutaneous CD30(+) anaplastic large cell lymphoma (PCALCL), transformed mycosis fungoides (T-MF) and systemic ALK(-) anaplastic large cell lymphoma (ALCL) with skin involvement. We investigated the presence of IRF4 translocation with break apart DNA-FISH method of these entities according to the recent studies of Feldman et al. In our study group with 53 cases, the detection of IRF4 translocation had a specificity and positive predictive value for PCALCL of 100%.