Received 28/2/2013 Accepted 21/5/2013 (006030) 1 Department of Chemistry, Federal University of Lavras – UFLA, CP 3037, CEP 37200-000, Lavras, MG, Brazil, e-mail: [email protected] *Corresponding author Chemical constituents and technological functional properties of acerola (Malpighia emarginata DC.) waste flour Tamara Rezende MARQUES1*, Angelita Duarte CORRÊA1, Jéssica Boreli dos Rei...

was not generated in this three-way translocation. Translocation t(8;18;16)(p11;q21;p13), another three-way translocation variant of t(8;16)(p11;p13) found in a 15month-old boy with AML M5b, also has a structure that could not generate CBP-MOZ but MOZ-CBP, while RTPCR was not performed in this case. Moreover, Murati et al. reported a 72-year-old man with AML M5a having a complex t(8;16)(p11;p13...

We describe the application of fluorescence in situ hybridization (FISH) in a case of suspected chronic myelogenous leukemia (CML), cytogenetically characterized by a t(21;22) with no clear involvement of chromosome 9. The dual color FISH technique, performed using specific painting probes for chromosomes 9,21,22 and a BCR/ABL translocation probe, enabled us to confirm the diagnosis of CML by d...

We have demonstrated that the renal endonuclease DNaseI is up-regulated in mesangial nephritis while down-regulated during progression of the disease. To determine the basis for these reciprocal DNaseI expression profiles we analyse processes accounting for an early increase in renal DNaseI expression. Main hypotheses were that i. the mesangial inflammation and secreted pro-inflammatory cytokin...

We have reproduced the posttranslational mode of protein translocation across the endoplasmic reticulum membrane with reconstituted proteoliposomes containing a purified complex of seven yeast proteins. This Sec complex includes a heterotrimeric Sec61p complex, homologous to that in mammals, as well as all other membrane proteins found in genetic screens for translocation components. Efficient ...

BACKGROUND We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysi...

AIM Excess mitochondrial reactive oxygen species (mROS) play a vital role in cardiac ischemia reperfusion (IR) injury. P66Shc, a splice variant of the ShcA adaptor protein family, enhances mROS production by oxidizing reduced cytochrome c to yield H2O2. Ablation of p66Shc protects against IR injury, but it is unknown if and when p66Shc is activated during cardiac ischemia and/or reperfusion and...

FKBP5 is a critical component of the Hypothalamic-Pituitary-Adrenal (HPA) axis, a system which regulates our response to stress. It forms part of a complex of chaperones, which inhibits binding of cortisol and glucocorticoid receptor translocation to the nucleus. Variations in both the HPA axis and FKBP5 have been associated with suicidal behavior. We developed a systematic, targeted sequencing...

The so-called Philadelphia (Ph) chromosome is found in over 90% of cases of chronic myeloid leukemia (CML). Of these cases, 2-10% demonstrate complex translocations involving a third chromosome in addition to chromosomes 9 and 22. Since the majority of CML cases are currently treated with imatinib, variant rearrangements tend to have no specific prognostic significance, although the mechanisms ...

The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant (MCL) is reported. The disease was clinically aggressive and refractory to chemotherapy, and the patient only survived for 1 month following diagnosis. Conventional cytogenetic study, FISH, and multicolor FISH (...