Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.

Osteogenesis imperfecta, a common genetic connective tissue disorder affecting bone with multisystemic implications, is caused by genomic alterations at various levels that disrupt the biosynthesis stages of collagen Type I. This study evaluated the intraoral and clinical findings of 43 OI cases in relation to genetic variants, aiming to contribute new insights into the roles of collagen and non-collagen genes in the oral-dental pathology of OI. Significant associations were found between OI variants and dental anomalies such as dentinogenesis imperfecta, enamel hypoplasia, taurodontism, and hypodontia.

Sperm RNA quantity and PRM1, PRM2 , and TH2B transcript levels reflect sperm characteristics and early embryonic development.

Spermatozoa have a highly complex RNA profile. Several of these transcripts are suggested as biomarkers for male infertility and contribute to early development. To analyze the differences between sperm RNA quantity and expression of protamine ( PRM1 and PRM2 ) and testis-specific histone 2B ( TH2B ) genes, spermatozoa from 33 patients who enrolled in assisted reproduction treatment (ART) program were analyzed.

Ultrastructure of coarse granules in the perivitelline space and association with ovulation induction protocols.

Objective: To evaluate the origin and ultrastructure of the coarse granules in the perivitelline space (PVS) of oocytes of a group of couples attending assisted reproduction treatment.

Methods: The ultrastructure of five oocytes with coarse granulues in the PVS obtained from three patients were evaluated by transmission electron microscopy (TEM). The influence of the ovulation induction regimen on the formation of granules in the PVS of the oocytes of 214 couples and the developmental capacity of these oocytes presenting granules in the PVS was analyzed retrospectively.

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies.

The scope of cell-free DNA (cfDNA) testing was expanded to the genome, which allowed screening for rare chromosome anomalies (RCAs). Since the efficiency of the test for RCAs remains below the common aneuploidies, there is a debate on the usage of expanded tests. This study focuses on the confirmatory and follow-up data of cases with positive cfDNA testing for RCAs and cases with screen-negative results in a series of 912 consecutive cases that underwent invasive testing following cfDNA testing.

Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.

Background: Pathogenic missense variants in PRKAG2, the gene for the gamma 2 regulatory subunit of adenosine monophosphate-activated protein kinase (AMPK), cause severe progressive cardiac disease and sudden cardiac death, named PRKAG2 cardiomyopathy. In our previous study, we reported a E506K variant in the PRKAG2 gene that was associated with this disease. This study aimed to functionally characterize the three missense variants (E506K, E506Q, and R531G) of PRKAG2 and determine the possible effects on AMPK activity.

Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.

Background: Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent.

Method: Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered.

Higher follicular fluid glycodelin levels are negatively correlated with embryonic development in assisted reproduction.

Objective: To investigate the possible effect of follicular fluid glycodelin levels on the quality of developing oocytes and subsequent embryo development.

Methods: Follicular fluid glycodelin levels of 145 patients undergoing assisted reproductive treatment were analyzed and the correlation between glycodelin levels and ART outcomes were evaluated.

Results: We found that glycodelin levels were negatively correlated with the number of high quality embryos on day 3 (r=-0.

The rs2516839 variation of USF1 gene is associated with 4-year mortality of nonagenarian women: The Vitality 90+ study.

Upstream transcription factor 1 (USF1) regulates the transcription of many genes related to cell and organism survival processes such as stress and immune response, regulation of cellular senesce, and carcinogenesis. In this study, our aim was to investigate the effect of USF1 single nucleotide variations (SNVs) on longevity in the Vitality 90+ study, a population-based study of nonagenarians (90 ±1 years of age) living in the area of Tampere municipality, Finland. Altogether 509 voluntary nonagenarians (115 males, 394 females) were genotyped using the 5'-nuclease assay for rs2774279G > A, rs2516839T > C, and rs2073658C > T SNVs.

Role of simvastatin and RORα activity in the macrophage apoptotic pathway.

Objective: Atherosclerosis is a chronic inflammatory condition and is one of the main causes of death worldwide. Macrophages play important roles in the formation of atherosclerotic plaques. Apoptosis is progressively observed while plaques develop, although the precise mechanisms and outcomes of apoptosis in atherosclerosis development and progression are still contradictory.

Identification of potential target genes of ROR-alpha in THP1 and HUVEC cell lines.

ROR-alpha is a nuclear receptor, activity of which can be modulated by natural or synthetic ligands. Due to its possible involvement in, and potential therapeutic target for atherosclerosis, we aimed to identify ROR-alpha target genes in monocytic and endothelial cell lines. We performed chromatin immunoprecipitation (ChIP) followed by tiling array (ChIP-on-chip) for ROR-alpha in monocytic cell line THP1 and endothelial cell line HUVEC.

CYP19A1, MIF and ABCA1 genes are targets of the RORα in monocyte and endothelial cells.

RORα is a member of nuclear receptor superfamily of transcription factors, which has a vital role in the regulation of various physiological processes. Cholesterol is a known ligand of RORα and is one of the key components that take part in cardiovascular diseases such as atherosclerosis. Therefore, it is possible that RORα might have a role in the development of atherosclerosis.