Abstract Background Von Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder with deficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF is located on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene is responsible for the clinical features of VWD, but some single nucleotide polymorphisms make the molecu...

Medullary thyroid cancer accounts for 5-10% of thyroid carcinomas. RET proto-oncogene mutations occur in all of the hereditary MTCs and about 66% of the sporadic MTCs. So, the detection of the RET mutations is necessary for rapid and proper diagnosis and treatment. This systematic review seeks to find a comprehensive list of RET gene mutations in the diagnosis of medullary thyroid cancer. The ...

Genetic improvement programs may improve disease resistance in animal production. The best-characterized genetic control of disease resistance and immune response in animals is the one associated with the Major Histocompatibility Complex (MHC). The ovine lymphocyte antigenof DRB1 gene encodes cell surface glycoproteins that initiate immune responses by presenting processed antigenic peptides to...

Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...

Pre-mRNA splicing removes introns and leaves in its wake a multiprotein complex near the exon-exon junctions of mRNAs. This complex, termed the exon-exon junction complex (EJC), contains at least seven proteins and provides a link between pre-mRNA splicing and downstream events, including transport, localization, and nonsense-mediated mRNA decay. Using a simple whole cell lysate system we devel...

Intron-containing genes are generally expressed more effectively in human cells than are intronless versions of the same gene. We have asked whether this effect is due directly to splicing or instead reflects the action of components of the exon junction complex (EJC) that is assembled at splice junctions after splicing is completed. Here, we show that intron removal does not enhance gene expre...

The DRB3 gene is a highly polymorphic major histocompatibility complex (MHC) class II gene and plays an important role in variability of immune responsiveness and disease resistance. In the present study, the MHC class II DRB3 gene in water buffalo (Bubalus bubalis) populations from Northwest regions of Iran was investigated through PCR-SSCP. Genomic DNA was extracted from whole blood samples c...

TP53 gene plays a critical role in the follow-up of different cancer cases, including diagnosis and treatment mutation P53 gene. It harms encoded protein less function types due to has many mechanisms eliminate cells, like apoptosis, cell cycle arrest, DNA repair. This study aims detect abnormality change sequence correlation with Mosul city extraction depends on manual description from blood, ...