PURPOSE To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1) using next-generation sequencing (NGS) of the common PPCD1 support interval, in which Sanger sequencing failed to identify a pathogenic mutation. METHODS Enrichment of the portion of chromosome 20 containing the common PPCD1 interval was performed on DNA extracted from an affected and an unaffected mem...

objective(s): the aim of this study was to investigate the methylation status and mrna expression levels of p15, death-associated protein kinase (dapk), and suppressor of cytokine signaling-1 (socs1) genes in multiple myeloma (mm). materials and methods: the bone marrow samples of 54 mm patients were collected and the methylation status of the p15, dapk, and socs1 gene promoter regions was dete...

conclusions some results of the correlation coefficients are not the same with visualization. the reason may be due to the small number of data. materials and methods in the foundation-application study, we constructed two-way gene networks using nonparametric methods, such as spearman’s rank correlation coefficient and blomqvist’s measure, and compared them with pearson’s correlation coefficie...

The p2 progenitor domain in the ventral spinal cord gives rise to two interneuron subtypes: V2a and V2b. Delta-Notch-mediated cell-cell interactions between postmitotic immature neurons have been implicated in the segregation of neuron subtypes. However, lineage relationships between V2a and V2b neurons have not been reported. We address this issue using Tg[vsx1:GFP] zebrafish, a model system i...

in view of the fundamental role of genetics in development of obesity, the present study aimed to investigate the single nucleotide polymorphism of some obesity-related genes among a subset of obese women living in tabriz, iran. for this purpose, 70 eligible obese women (aged 18-45 years) were genotyped for the uncoupling protein-1 (ucp-1) -3826a>g, ß3-adrenergic receptor (ß3adr) trp64arg, lept...

Multipotent progenitors in the vertebrate retina often generate clonally related mixtures of excitatory and inhibitory neurons. The postmitotically expressed transcription factor, Ptf1a, is essential for all inhibitory fates in the zebrafish retina, including three types of horizontal and 28 types of amacrine cell. Here, we show that specific types of inhibitory neurons arise from the cell-auto...

Ribeye is the only known protein specific to synaptic ribbon, but its function is unclear. We show that the teleost fish, Fugu and zebrafish, have two ribeye genes, ribeye a and ribeye b. Whole-mount in situ hybridization revealed that ribeye a is expressed in tissues containing synaptic ribbons, including the pineal gland, inner ear, and retina. Ribeye b is absent in the pineal gland. In the r...