Gene

Sequence analysis of the regulatory region of the TNF-RII gene in Polish Holstein-Friesian cows

A. Stachura, Kaczmarczyk, E., and Bojarojć-Nosowicz, B., Sequence analysis of the regulatory region of the TNF-RII gene in Polish Holstein-Friesian cows, vol. 12. pp. 1028-1034, 2013.

Tumor necrosis factor receptor type II (TNF-RII) is a surface glycoprotein that can form a complex with TNF-α and participate in the body's immune response. Functions of TNF-RII are impaired in the pathogenesis of viral diseases. We analyzed sequences in the regulatory region of the TNF-RII gene in cattle. An attempt was also made to identify mutations that would have the greatest effect on the expression of the TNF-RII gene. Selected fragments of the regulatory region of the TNF-RII gene (5'-flanking region, fragments of intron 1 and 3'-UTR) were sequenced and analyzed.

Effects of genetic variants of CCR5 chemokine receptors on oral squamous cell carcinoma

C. R. Tanyel, Cincin, Z. B., Gokcen-Rohlig, B., Bektas-Kayhan, K., Unur, M., and Cakmakoglu, B., Effects of genetic variants of CCR5 chemokine receptors on oral squamous cell carcinoma, vol. 12, pp. 5714-5720, 2013.

We aimed to evaluate the effect of genetic variants of the chemokine C-C motif receptor (CCR5) in the pathogenesis of oral squamous cell carcinoma (OSCC). A total of 127 patients diagnosed with OSCC and 104 healthy individuals were included in the study. The polymorphisms CCR5 59029 and CCR5-delta32 were assessed with the polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) method from peripheral blood samples of both groups. There was a statistically significant difference between the control and patient groups for CCR5 59029 A/G genotypes (P 0.05).

A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia

G. X. Wang, Sun, R. P., and Song, F. L., A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia, vol. 9, pp. 41-47, 2010.

Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other skeletal anomalies. X-ray analysis showed aplasia of the clavicles.

A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex

G. - X. Wang, Wang, D. - W., Zhao, J. - S., Wang, S. - F., and Sun, R. - P., A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex, vol. 10. pp. 107-113, 2011.

Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed subependymal nodules along the lateral walls of the lateral ventricles. The TSC1 and TSC2 genes were studied by PCR and direct sequencing of the entire coding region and exon-intron boundaries of these genes.

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