Association of meleanocortin 4 receptor gene polymorphism (MC4R:C.92C>T) with feline diabetes.

Objective: (DM) is a prevalent endocrine condition found in cats. Recent research has identified a connection between a higher risk of diabetes in cats and genetic factors. This genetic susceptibility to type 2 diabetes is associated with genes that control insulin secretion and function, as well as those that impact factors like obesity.

Association of CX36 Protein Encoding Gene with Refractive Errors.

Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72 hyperopia with astigmatism patients) and 104 ophthalmologically healthy subjects in the control group. A quantitative real-time polymerase chain reaction (qPCR) method was chosen for genotyping.

Gut microbial similarity in twins is driven by shared environment and aging.

Background: Human gut microbiome composition is influenced by genetics, diet and environmental factors. We investigated the microbial composition in several gastrointestinal (GI) compartments to evaluate the impact of genetics, delivery mode, diet, household sharing and aging on microbial similarity in monozygotic and dizygotic twins.

Methods: Fecal, biopsy and saliva samples were obtained from total 108 twins.

Quantitative study of asymmetry in the manifestation of the wings-in and wings-out versions of the Müller-Lyer illusion.

The present study investigated whether the asymmetry in magnitude between the wings-in and wings-out versions of the Müller-Lyer illusion can be explained by the manifestation of accompanying effects of the filled-space illusion. In psychophysical experiments, the three-dot stimuli were used, and in different series, a single set of the Müller-Lyer wings was attached to the left or to right terminating dot. To check whether the summation of illusory effects occurs, experiments with two sets of the wings forming the Judd figure were performed.

Associations of Polymorphisms Localized in the 3'UTR Regions of the , , Genes with Laryngeal Squamous Cell Carcinoma.

Background: Genetic variations, localized in the 3' untranslated region (UTR) in mitogen-activated protein kinase (MAPK) pathway-related genes, may alter the transcription and impact the pathogenesis of laryngeal squamous cell carcinoma (LSCC). The present study investigated the associations of single-nucleotide polymorphisms (SNP), localized in the 3'UTR) of the , and genes with LSCC risk and clinicopathological features.

Methods: Genomic DNA and clinical data were collected from 327 adult men with LSCC.

MiRNA profiling of gastrointestinal stromal tumors by next-generation sequencing.

Deregulation of miRNAs has been observed virtually in all major types of cancer, whereas the miRNA signature in GIST is not well characterized yet. In this study the first high-throughput miRNA profiling of 15 paired GIST and adjacent normal tissue samples was performed using small RNA-seq approach and differentially expressed miRNAs as well as isomiRNAs were defined. Highly significantly deregulated miRNAs were selected for validation by Taq-Man low-density array in replication group of 40 paired samples.

Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population.

Background And Objective: Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked hereditary hemochromatosis (HH) predisposes disease progression to cirrhosis; however, the role of heterozygous C282Y or H63D mutations in the development of cirrhosis in the presence of other etiological factors is still debated.

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.

We present a patient with optic nerve hypoplasia, secondary strabismus, mild deafness, abnormal external ear helices, and renal hypoplasia. The clinical phenotype was consistent with renal-coloboma syndrome, but no point mutation in the PAX2 gene could be identified. High-resolution array comparative genomic hybridization (aCGH) analysis showed that this patient has a submicroscopic deletion on chromosome 10, affecting the entire coding region of the PAX2 gene.

Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.

HFE-hemochromatosis is a common autosomal recessive disease caused by HFE gene mutations and characterized as iron overload and failure of different organs. The aim of this study was to determine the prevalence of C282Y (c.845 G>A), H63D (c.

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.

Purpose: The goal of our study was to determine whether genomic copy number abnormalities (deletions and duplications) affecting genes involved in eye development contributed to the etiology of anophthalmia, microphthalmia, and coloboma.

Methods: The affected individuals were evaluated for the presence of deletions and duplications in genomic DNA by a very high-resolution array comparative genomic hybridization.

Results: Array analysis of 32 patients detected one case with a deletion encompassing the renal-coloboma syndrome associated gene PAX2.

High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.

Aim: To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson's disease (WD) in Lithuania.

Methods: Eleven unrelated Lithuanian families, including 13 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system.

Human male sex determination and sexual differentiation: pathways, molecular interactions and genetic disorders.

The complex mechanisms are responsible for male sex determination and differentiation. The steps of formation of the testes are dependent on a series of Y-linked, X-linked and autosomal genes actions and interactions. After formation of testes the gonads secrete hormones, which are essential for the formation of the male genitalia.

Denys-Drash syndrome.

Constitutional missense mutations in the WT1 gene are usually associated with Denys-Drash syndrome. This rare syndrome is characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. We report on a patient with incomplete Denys-Drash syndrome, which was evident by the clinical data and proved by molecular genetics methods.