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E3 ubiquitin ligases are a large gene family that plays a diversity of roles in spermatogenesis. In this study, the functional characterization of a neuralized E3 ubiquitin protein ligase 3 (neurl3) revealed its potential participation in spermatogenesis. Firstly, we found that neurl3 exhibited male-biased transcription and that its translation was predominant in testis germ cells. The knockdown of...
Carotenoids are one of the most common classes of natural pigments widely occurring within organisms. These structurally diverse pigments are of great importance in different processes such as nutrition, vision, cellular growth and development. While found in various yeast strains, one of the best-studied carotenoid producer is the pigmented species Sporidiobolus pararoseus. However, the precise nature...
Testis-specific protein kinase 1 (tesk1) represents a conserved gene family functioning in many cellular processes. In this study, we cloned and characterized an autosome-localized tesk1 gene (Altesk1) from Cynoglossus semilaevis. The open reading frame consists of 2088 nucleotides and encodes a 665 amino acid polypeptide. Phylogenetic analyses show that vertebrate Tesk1s are divided into two clusters...
Roche 454 next-generation sequencing was applied to obtain extensive information about the transcriptomes of the bread wheat cultivar Yunong 201 and its EMS mutant line Yunong 3114. Totals of 1.43 million and 1.44 million raw reads were generated, 14,432, 17,845 and 27,867 isotigs were constructed using the reads in Yunong 201, Yunong 3114 and their combination, respectively. Moreover, 29,042, 34,722,...
The fibroblast growth factor 5 gene (FGF5) is a member of the FGF gene family, and represents a candidate gene for hair length because of its role in the regulation of the hair follicle growth cycle. In our current study, we cloned, sequenced, and characterized the full-length FGF5 cDNA of Chinese Merino sheep. We obtained the complete genomic sequence of the FGF5 gene from sheep blood samples, and...
Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth. EPPK is generally caused by mutations of the KRT9 gene. More than 26 KRT9 gene mutations...
p63, homologous to p53, has been investigated to be involved in various aspects of tumorigenesis and cancer progression. Recently, we have identified a functional single nucleotide polymorphism (SNP) rs17506395 (T>G) in p63 which was associated with female reproduction and ovarian cancer development. The present study aimed to evaluate the association of rs17506395 genotypes with breast cancer...
Accumulating evidence has indicated that single nucleotide polymorphisms (SNPs) in miRNA precursors may have an effect on miRNA expression levels. Recently, an important A to G transition SNP in pre-mir-27a (rs895819) was identified. Previous studies have investigated the role of rs895819 in cancer risk, but the results remain contradictory, rather than conclusive. The present study aimed to evaluate...
Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, and duplication sequences of PKD1. Recently, targeted resequencing by pooling long-range polymerase chain reaction (LR-PCR) amplicons has been used in the identification of mutations in ADPKD. Despite its high sensitivity, specificity...
Gastric cancer is one of the most common malignancies, and radiation resistance is one of the key obstacles in gastric cancer treatment. In this study, we demonstrate that “genes associated retinoid–IFN induced mortality-19” (GRIM-19) expression was lower in patients with radiotherapy-resistant tumors compared to patients with radiotherapy-sensitive tumors. In order to further investigate the effects...
Danon disease is a rare X-linked lysosomal storage disease characterized by hypertrophic cardiomyopathy, myopathy and mental retardation, and is due to a primary defect in lysosome-associated membrane protein-2 (LAMP 2). More than 26 mutations in the LAMP2 gene have been described, including a small number of de novo mutations, some of which are suspected to be caused by germline mosaicism. Here,...
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