Study with a series of diagnoses with a common life, but which may be compatible with disease onset markers in Portugal.
The study, published in the open access scientific journal Science Advances, was contributed by the Instituto Gulbenkian de Ciência (IGC), where most of the work was carried out, by the Algarve Biomedical Center Research Institute. and institutions in Austria and the Netherlands.
The small and intellectual children (who have abnormal children who have a couple of children, children, children, children) and the mother. which encodes a protein “responsible for monitoring problems in cell division”.
“This was a very surprising finding, as it was discovered that the function was affecting a protein so essential to the investigated Lusa of the Oliveira Chromosomes, which in I.
According to biochemistry, which in these two first diagnoses were identified with the work that lead to “effective mutations” B, which shows in both copies of the UB1 gene, that “UB1, development was not caused by “B impetram the organism”, although the boy and the girl have disabilities: microcephaly, intellectual disorders and “other characteristic clinical anomalies” of each.
The three-year-old boy and the 16-year-old boy were being followed in Austria and the Netherlands.
For Raquel Oliveira, “it is possible that more children, or even adults, have this mutation in their genome” and that the study “encourages the medical community to include” the BUB1 gene
The IGC is very difficult in diagnosis, that rare disease “continue diagnosis or diagnosis or diagnosis or diagnosis very different from rare diseases.
“The discovery of a new gene associated with a microcephaly of a new gene associated with a description of additional clinical features may have a diagnosis of new terms with people who were easily identified with the UB1 people more than the community may have the diagnosis of new terms that allowed people not to have B.
The study, like other problems, suggests that development “is very susceptible to what can occur during mitosis,” the process of cell division.
The IGC explains that when cells divide “it is essential that the genetic information is equitably distributed among the new cells”.
“It is at this point that errors in division can occur, which can damage the characteristics of your DNA”, which lead to information, “or a change in your number”. Such errors are associated with several diseases.
Sara Carvalhal from the study and former IGC investor, moved to her own Biomedical laboratory in the Algarve, where she creates in mitosis about the first center of creation in mitosis for the first author as a creator in mitosis for the first author as rare .
When the focus is still working in the laboratory of the IGC Raquel Oliveira, “the fundamental aspects of cell division and the mechanisms that ensure the fidelity of the process” are designed, Sara Carval “establish with fidelity and genetics that work in rare diseases if we observe cases in the cola together with the chromosomes, which maintain the chromosomes, to verify with protein a hypothesis tested with the fruit fly.
In a partial splitting of the fruit, a researcher found that the “loss of chromosomes with experience of “disjointed” chromosomes in unexpected problems in cell division “is associated with movements and times of ‘disjointed’ chromosomes.”
Collaborative fruits manufactured with foreign products, the I received cells from a patient of the object disclosed today and from genetic chromosomes that seem to have genetic problems that keep the same problems in the same glue.
“For us, it was surprising when we found out that it was the [gene] BUB1 that was mutated”, Sara Carvalhal told Lusa.
Patients are genome doctors to identify as a useful cell from two research cells that use two research genes.
“We have access to a study carried out in the context of the Algarve, which, already given for the study carried out in this study, was published in the Algarve, which, already given for the study carried out, .
Deopathy with Sara Car, the discovery made “contributes to a better understanding of the divergences and problems of this conformity”, and of other situations already presented that have clearly similarity with the syndrome observed in mosaic, the variegated in mosaic, the variegated primary microcephaly.
A “deeper characterization of this new syndrome”, still without a deeper name due to the few cases identified, specifically, if not the largest study in two published cases both copies of the BUB1 gene are linked to “a higher probability of development”.
According to researcher Raquel Oliveira, changes in one of the copies of the BUB1 gene are related to the functioning of cancer. The “expression is linked” from BUB1 to spontaneous abortions, advanced by the Gul Institute.
Another investigation investigated by the IGC, Alexandr Jorge Tava, who works also does not work for Portuguese, signed by Raquel Oliveira, published in Sciences.