Natural Variation in the Splice Site Strength of a Clock Gene and Species-Specific Thermal Adaptation

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

Restoration of correct splicing in IVSI-110 mutation of β-globin gene with antisense oligonucleotides: implications and applications in functional assay development

Objective(s): The use of antisense oligonucleotides (AOs) to restore normal splicing by blocking the recognition of aberrant splice sites by the spliceosome represents an innovative means of potentially controlling certain inherited disorders affected by aberrant splicing. Selection of the appropriate target site is essential in the success of an AO therapy. In this study, in search for a splic...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

The site selection of heat islands and its adaptation to satellite imagery based on the TOPSIS model in Mashhad

In recent years with the development of cities coatings of the Earth's has changed surface.  These changes have caused some urban areas to have a few degrees higher than the surrounding temperature. This phenomenon is known as thermal islands. Mashhad is one of the major metropolises in Iran with the problem of thermal islands. Various parameters affect the formation of thermal islands in this ...

Genetic and Phylogenetic Analysis of Adani Goat Population Based on Cytochrome B Gene

Identification of genetic characteristics is an important factor for preservation of species life. The aim of this study was to identify the genetic characteristics of the Adani goat populations based on the cytochrome b (Cyt b) gene and to detection its phylogenetic relationships with the domestic and wild goat species using NCBI database. Blood samples were taken from 12 Adani goat and subseq...