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Genes that affect brain structure and function identified by rare variant analyses of mendelian neurologic disease
(Cell Press, 2015)
Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ...
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis
(Oxford Univ Press, 2015)
POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphismand hypotrichosis (SOFT) syndrome. These main features are related to ...
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
(BioMed Central Ltd, 2015)
Background: 3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin ...
Circulating miR-21 and eNOS in subclinical atherosclerosis in patients with hypertension
(Taylor & Francis Inc., 2015)
Objectives: The aim of this study is to evaluate the relationship of miR-21, nitric oxide (NOx) and endothelial nitric oxide synthase (eNOS) with subclinical atherosclerosis in carotid arteries by measuring carotid intima ...
Alpha-B-crystallin expression in human laryngeal squamous cell carcinoma tissues
(Wiley, 2015)
BackgroundLaryngeal squamous cell carcinoma (SCC), being an aggressive malignancy, is one of the most commonly diagnosed malignant types of head and neck SCC worldwide. The recent studies suggested that B-crystallin might ...
Differential expression of hypertension-associated microRNAs in the plasma of patients with white coat hypertension
(Wolters Kluwer Health, 2015)
White coat hypertension (WCH) is a high cardiovascular risk condition, and a fundamental understanding of the cause and pathophysiology of the disorder is still lacking. Recent studies demonstrated that microRNAs (miRNAs) ...
Whole-exome sequencing revealed two novel mutations in Usher syndrome
(Elsevier Science Bv., 2015)
Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP). Since the associated genes are various and quite large, we ...
Overexpression of miR-145-5p inhibits proliferation of prostate cancer cells and reduces SOX2 expression
(Taylor & Francis Inc, 2015)
We aimed to perform functional analysis of miR-145-5p in prostate cancer (PCa) cells and to identify targets of miR-145-5p for understanding its role in PCa pathogenesis. PC3, DU145, LNCaP PCa, and PNT1a nontumorigenic ...
Identification of microRNAs differentially expressed in prostatic secretions of patients with prostate cancer
(Wiley-Blackwell, 2015)
Prostate cancer (PCa) is one of the leading causes of cancer deaths in men. Since there are limited treatment options available for the advanced tumors, there is an urgent need for novel diagnostic tools for PCa. Prostate ...
A novel gene selection algorithm for cancer identification based on random forest and particle swarm optimization
(IEEE, 2015)
In order to achieve informative gene from thousands of candidate genes contributing to the symptom of cancer, two novel gene selection approaches for classification of multiclass microarray datasets are proposed. In the ...
