The t(7;12)(q36;p13) translocation is a recurrent chromosome abnormality that involves the ETV6 gene on chromosome 12 and has been identified in 20-30% of infant patients with acute myeloid leukaemia (AML). The detection of t(7;12) rearrangements relies on the use of fluorescence in situ hybridization (FISH) because this translocation is hardly visible by chromosome banding methods. Furthermore...

Inhibition of calcium channels by G-protein-coupled receptors depends on the nature of the Galpha subunit, although the Gbetagamma complex is thought to be responsible for channel inhibition. Ca currents in hypothalamic neurons and N-type calcium channels expressed in HEK-293 cells showed robust inhibition by G(i)/G(o)-coupled galanin receptors (GalR1), but not by Gq-coupled galanin receptors (...

Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chromosome 21 aberration,including 1284(98.77%) of Down syndrome have been detected.1191 of cases (92.76%) born free trisomy 21:61 cases (4.75%) revealed translocation and 32 cases (2.4%) showed mosaic pattern.among the pateints,59 had robertsonian translocation,2 had translocation between chromosome ...

Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...

PURPOSE Ewing sarcoma is an aggressive sarcoma and is the second most common bone sarcoma in childhood. Disease-specific t(11;22) ( approximately 85-90%), t(21;22) ( approximately 5-10%), or rarer variant translocations with the involvement of chromosome 22 ( approximately 5%) are present. At the gene level, the EWSR1 gene fuses with FLI1, ERG, or other ETS transcription factor family members. ...

Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML) characterized by the reciprocal translocation t(15;17)(q22;q12) resulting in the fusion gene PML-RARA and an oncoprotein that impairs myeloid differentiation (Arber et al., 2008; de The et al., 1990; Rowley et al., 1977). Morphological and clinical characteristics include hypergranular leukemic promyelocytes, Auer r...

Dysfunction of mitochondrial complex I is associated with a wide spectrum of neurodegenerative disorders, including Parkinson's disease (PD). In rodents, inhibition of complex I leads to degeneration of dopaminergic neurons of the substantia nigra pars compacta (SNpc), as seen in PD, through activation of mitochondria-dependent apoptotic molecular pathways. In this scenario, complex I blockade ...

The researchers aimed to evaluate the effects of long non-coding ribonucleic acid plasmacytoma variant translocation 1 (lncRNA PVT1) regulating octamer binding transcription factor 4 (OCT4) expression on hepatocellular carcinoma (HCC) cells. It was discovered that in contrast blank group, si-PVT1 group had lower PVT1 and OCT4 expressions, number invading cells wound healing rate, higher radiose...

The conformations of synthetic peptides corresponding to signal sequences of chicken lysozyme and Escherichia coli proteins alkaline phosphatase and lipoprotein (wild-type) and their "variants" with a charged amino acid in the hydrophobic region, have been studied by circular dichroism spectroscopy in trifluoroethanol and micelles of sodium dodecyl sulfate, Brij 35, and sodium deoxycholate. In ...

Cotranslational translocation is initiated by targeting of a ribosome-bound nascent polypeptide chain (RNC) to the endoplasmic reticulum (ER) membrane. The targeting reaction is coordinated by the signal recognition particle (SRP) through its interaction with the RNC and the membrane-bound SRP receptor (SR). A vacant translocon is a prerequisite for the subsequent nascent chain release from SRP...