Unique clinical implications of HIV-related lymphomaInternational Journal of Hematologic Oncology , 3 (3) 171-174. Epub 2014
Remisión completa espontánea en dos pacientes con leucemia linfática crónica.Medicina Clínica , 137: 238-239. Epub 2011
Neoplasia de células dendríticas plasmocitoides en un varón de 71 añosMedicina Clínica , ID MEDES: 67209 137: 189-190. Epub 2011
Prenatal detection of a paracentric inversion 16(q11.2q13).Ann. Genet. , 45 (3) 141-2.
We report the prenatal detection of an inherited paracentric inversion 16(q11.2q13).Més informació
Prenatal diagnosis of an interstitial 12q chromosome deletion.Ann. Genet. , 47 (2) 177-9.
Rearrangements involving long arm of chromosome 12 are rare events. To our knowledge, we present the first case of an interstitial deletion of the long arm of chromosome 12 in a prenatal diagnosis. A review of the literature is included in our report.Més informació
Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms.Blood Cells Mol. Dis. , 27 (1) 35-43.
The human HFE gene was identified in 1996 as the gene whose mutations are responsible for hereditary hemochromatosis in most patients. Expression analysis by Northern blot indicated that the gene was approximately 4.1 kb in length. However, the cDNA reported was only 2716 bp. These results implied that at least 1.4 kb of the mRNA remained to be identified. In the present study, we detected several 3' EST clones while screening the genomic region of the gene in search of potential additional HFE mRNA sequences. Subsequent sequencing of these EST clones and RT-PCR experiments revealed that exon 7 of the HFE gene has, in fact, a length of 1944 bp and it presents two polyadenylation signals. The new human HFE exon 7 region has been screened in non-C282Y HH patients in search for new putative mutations. Mouse 3' RACE experiments also further extend the previously reported mouse HFE exon 6 sequence. Additionally, we report two novel end forms of the human HFE gene detected by 3' RACE experiments and several novel splicing forms identified in the HepG2 cell line.Més informació
Structure of thymidine kinase gene introduced into mouse Ltk- cells by a new injection method.Gene , 19 (1) 11-9.
Pricking, a new injection method developed by Yamamoto et al. (1981), can be used to introduce DNA into cultured cells with high efficiency. Closed circular plasmid DNA containing the cloned HSV-TK gene (pTK-1) was introduced by this method and the structure of DNA in stable transformants was examined. In most clones, the introduced DNA was integrated into the mouse genome in a tandemly repeated form. The possibility of multiple integration via mouse middle repetitive sequences was also examined using the chimeric plasmid with TK genes and middle repetitive sequences (pMRTK-1). Digestion with restriction enzymes showed that the middle repetitive sequence used in this experiment had no effect on the efficiency of transformation, suggesting that this sequence is unable to mediate homologous recombination with mouse genomes.Més informació
The c-K-ras gene and human cancer (review).Anticancer Res. , 7 (4A) 639-52.
A significant number of human tumors from diverse histological origins contain c-K-ras oncogenes which have been activated by somatic point mutations resulting in single amino acids substitutions in the encoded p21 ras protein. In addition to these qualitative changes, other genetic alterations leading to increased expression of the c-K-ras gene, especially its mutated form, appear to be important in the activation of its oncogenic potential. These findings support the hypothesis that c-K-ras oncogenes are contributing in a dominant but dose dependent manner to the multistage process of human tumorigenesis. Activated c-K-ras oncogenes have been detected in human tumors at different stages of progression, including premalignant neoplasms. These studies provide evidence for the involvement of somatic mutational activation of this ras gene in the early stages of tumor development in some types of human cancer. We discuss here the structural and functional features of the human c-K-ras gene and the involvement of its activated form in human cancer.Més informació
Human Embryonic and Induced Pluripotent Stem Cells
Chapter in the book: Human Embryonic and Induced Pluripotent Stem Cells Chapter title: Induced pluripotent stem cells from cord blood CD133+ cells using Oct4 and Sox2 Published by Springer Protocol Handbook Series in 2011