0000000000799934

AUTHOR

Agustí Toll

0000-0003-2656-0076

showing 2 related works from this author

Oxidative stress and mitochondrial dysfunction in Kindler syndrome

2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License.-- et al.

Premature agingMaleKeratinocytesAdolescentComputingMilieux_LEGALASPECTSOFCOMPUTINGMitochondrionmedicine.disease_causePathogenesisKindler syndrome03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBlistermedicineHumansGenetics(clinical)Pharmacology (medical)Photosensitivity DisordersGenodermatosisChildGenetics (clinical)Cells CulturedPeriodontal Diseases030304 developmental biologyAged 80 and overMedicine(all)0303 health sciencesintegumentary systemResearchGeneral MedicineGlutathioneMiddle Agedmedicine.diseaseMalondialdehydeMolecular biology3. Good healthMitochondriaOxidative StresschemistryOxidative stress030220 oncology & carcinogenesisChild PreschoolFemaleSkin cancerEpidermolysis BullosaKindlin1Oxidative stressOrphanet Journal of Rare Diseases
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Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ…

2011

Dermatofibrosarcoma protuberans (DFSP) is characterized by the presence of the t(17;22)(q22;q13) that leads to the fusion of the COL1A1 and PDGFB genes. This translocation can be detected by multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) techniques. We have evaluated the usefulness of a dual color dual fusion FISH probe strategy for COL1A1/PDGFB detection in a series of 103 archival DFSPs and compared the obtained results with RT-PCR analyses. FISH and RT-PCR were carried out on paraffin embedded tissue samples. Regarding the RT-PCR approach, all COL1A1 exons and exon 2 of PDGFB were evaluated. Sensitivity, specificity, positi…

AdultMaleCancer ResearchCD34Chromosomal translocationBiologyCollagen Type Ilaw.inventionlawGeneticsmedicineDermatofibrosarcoma protuberansHumansChildIn Situ Hybridization FluorescencePolymerase chain reactionFibrosarcomatous Dermatofibrosarcoma ProtuberansPDGFBmedicine.diagnostic_testReverse Transcriptase Polymerase Chain ReactionDermatofibrosarcomaProto-Oncogene Proteins c-sismedicine.diseaseMolecular biologyCollagen Type I alpha 1 ChainImmunohistochemistryFluorescence in situ hybridizationGenes Chromosomes and Cancer
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