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...

background: the study of specific genes expressed in the testis is important to understanding testis development and function. spermatogenesis is an attractive model for the study of gene expression during germ cell differentiation. spermatogenesis associated-19 (spata-19) is a recently-identified important spermatogenesis-related gene specifically expressed in testis. its protein product is in...

Background: The study of specific genes expressed in the testis is important to understanding testis development and function. Spermatogenesis is an attractive model for the study of gene expression during germ cell differentiation. Spermatogenesis associated-19 (Spata-19) is a recently-identified important spermatogenesis-related gene specifically expressed in testis. Its protein product is in...

abstract background and aim: survivin is a new member of inhibitor of apoptosis protein family (iap) that plays an important role in the regulation of cell cycle and inhibition of apoptosis. distinct expression of this gene in tumoral cells versus normal cells introduces it as the fourth major transcriptome in cancers. thyroid carcinoma is the most common endocrine malignancy. considering the h...

Objective(s):Previous studies demonstrate that changes in pre-mRNA splicing play a significant role in human disease development. Furthermore, many cancer-associated genes are regulated by alternative splicing. There are mounting evidences that splice variants which express predominantly in tumors, have clear diagnostic value and may provide potential drug targets. Located on the X chromosome, ...

objective(s):previous studies demonstrate that changes in pre-mrna splicing play a significant role in human disease development. furthermore, many cancer-associated genes are regulated by alternative splicing. there are mounting evidences that splice variants which express predominantly in tumors, have clear diagnostic value and may provide potential drug targets. located on the x chromosome, ...

Background:Long non-coding RNAs, as a big part of non-coding RNAs, are considered functionally more than past. These transcripts could be involved in carcinogenesis. SNHG6, as a long non-coding RNA, has been reported to be expressed more in colorectal cancer tissues than non-cancerous ones.  Colorectal cancer as a malignancy needs fast prognostic and diagnostic methods for well...

objective: methylmalonic acidura (mma) is a rare autosomal recessive inborn error of metabolism. in this study we present a novel nucleotide change in the mutase (mut) gene of two unrelated iranian pedigrees and introduce the methods used for its functional analysis. materials and methods: two probands with definite diagnosis of mma and a common novel variant in the mut were included in a descr...