0000000000267974

AUTHOR

Mariam Ibáñez

showing 7 related works from this author

CYP2C8 gene polymorphism and bisphosphonate-related osteonecrosis of the jaw in patients with multiple myeloma

2011

Osteonecrosis of the jaw is an uncommon but potentially serious complication of bisphosphonate therapy in multiple myeloma. Previous studies showed that the presence of one or two minor alleles of the cytochrome P450, subfamily 2C polypeptide 8 gene (CYP2C8) polymorphism rs1934951 was an independent prognostic marker associated with development of osteonecrosis of the jaw in multiple myeloma patients treated with bisphosphonates. The aim of this study was to validate the frequency of SNP rs193451 in 79 patients with multiple myeloma. In 9 (22%) patients developing osteonecrosis of the jaw, a heterozygous genotype was found, in contrast with those who did not develop osteonecrosis of the jaw…

AdultMalemedicine.medical_specialtyPathologyCYP2C8Genotypemedicine.medical_treatmentONJGastroenterologyPolymorphism Single NucleotideCytochrome P-450 CYP2C8stomatognathic systemInternal medicineGenotypemedicineSNPHumansAllelebisphosphonatesMultiple myelomaAllelesAgedAged 80 and overBisphosphonate-associated osteonecrosis of the jawbusiness.industryHematologyBisphosphonateMiddle Agedmedicine.diseasemultiple myelomastomatognathic diseasesBisphosphonate-Associated Osteonecrosis of the JawFemaleBrief ReportsAryl Hydrocarbon HydroxylasesOsteonecrosis of the jawComplicationbusinessMultiple Myeloma
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WT1 isoform expression pattern in acute myeloid leukemia.

2013

WT1 plays a dual role in leukemia development, probably due to an imbalance in the expression of the 4 main WT1 isoforms. We quantify their expression and evaluate them in a series of AML patients. Our data showed a predominant expression of isoform D in AML, although in a lower quantity than in normal CD34+ cells. We found a positive correlation between the total WT1 expression and A, B and C isoforms. The overexpression of WT1 in AML might be due to a relative increase in A, B and C isoforms, together with a relative decrease in isoform D expression.

Gene isoformAdultMalecongenital hereditary and neonatal diseases and abnormalitiesCancer ResearchAdolescentCD34HL-60 CellsBiologyurologic and male genital diseasesPositive correlationCohort StudiesYoung AdultDual roleExpression patternhemic and lymphatic diseasesmedicineTumor Cells CulturedHumansProtein IsoformsWT1 ProteinsAgedAged 80 and overurogenital systemGene Expression Regulation LeukemicGene Expression ProfilingMyeloid leukemiaHematologyMiddle Agedmedicine.diseaseMolecular biologyfemale genital diseases and pregnancy complicationsLeukemiaLeukemia Myeloid AcuteOncologyCase-Control StudiesFemaleK562 CellsLeukemia research
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Response to lenalidomide in myelodysplastic syndromes with del(5q): influence of cytogenetics and mutations.

2012

Summary Lenalidomide is an effective drug in low-risk myelodysplastic syndromes (MDS) with isolated del(5q), although not all patients respond. Studies have suggested a role for TP53 mutations and karyotype complexity in disease progression and outcome. In order to assess the impact of complex karyotypes on treatment response and disease progression in 52 lenalidomide-treated patients with del(5q) MDS, conventional G-banding cytogenetics (CC), single nucleotide polymorphism array (SNP-A), and genomic sequencing methods were used. SNP-A analysis (with control sample, lymphocytes CD3+, in 30 cases) revealed 5q losses in all cases. Other recurrent abnormalities were infrequent and were not ass…

OncologyMalemedicine.medical_specialtyMultivariate analysisCD3Single Nucleotide Polymorphism ArrayBiologyPolymorphism Single NucleotideInternal medicinemedicineHumansImmunologic FactorsPlateletLenalidomideIn Situ Hybridization FluorescenceLenalidomideAgedAged 80 and overMyelodysplastic syndromesCytogeneticsKaryotypeHematologyMiddle Agedmedicine.diseaseChromosome BandingThalidomideTreatment OutcomeMyelodysplastic SyndromesImmunologyMutationbiology.proteinDisease ProgressionChromosomes Human Pair 5FemaleChromosome Deletionmedicine.drugBritish journal of haematology
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Absence of mutations in the activation loop and juxtamembrane domains of VEGFR-1 and VEGFR-2 gene in chronic myelomonocytic leukemia (CMML)

2012

Cancer ResearchMutationbiologyVEGF receptorsChronic myelomonocytic leukemiaKinase insert domain receptorHematologymedicine.diseasemedicine.disease_causelaw.inventionchemistry.chemical_compoundOncologychemistrylawDNA Mutational AnalysismedicineCancer researchbiology.proteinGeneDNAPolymerase chain reactionLeukemia Research
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Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …

2021

Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…

0301 basic medicineCHSLYSTCase ReportHemophagocytic lymphohistiocytosis030105 genetics & hereditymedicine.disease_causeLoss of heterozygosityExonCh&#233diak-Higashi syndromeImmunology and AllergyMissense mutation:Genetic Phenomena::Genetic Phenomena::Inheritance Patterns::Genes Recessive [PHENOMENA AND PROCESSES]Genetics:fenómenos genéticos::fenómenos genéticos::patrones de herencia::genes recesivos [FENÓMENOS Y PROCESOS]MutationPrimary immunodeficiencySistema inmune - Enfermedades - Diagnóstico.Loss of heterozygosityChédiak-Higashi Síndrome de - Diagnóstico.:enfermedades del sistema inmune::síndromes de inmunodeficiencia::disfunción bactericida del fagocito::síndrome de Chediak-Higashi [ENFERMEDADES]Uniparental disomyImmune system - Diseases - Diagnosis.Chromosome abnormalities.loss of heterozygositySNP array:fenómenos genéticos::variación genética::mutación::aberraciones cromosómicas::disomía uniparental [FENÓMENOS Y PROCESOS]lcsh:Immunologic diseases. AllergyAnomalías y malformaciones cromosómicas.disomia uniparentaluniparental disomy:Immune System Diseases::Immunologic Deficiency Syndromes::Phagocyte Bactericidal Dysfunction::Chediak-Higashi Syndrome [DISEASES]ImmunologyChédiak-Higashi syndromeSingle-nucleotide polymorphismBiologyprimary immunodeficiency03 medical and health sciencesMalalties immunològiquesmedicineGenetic disorders - Diagnosis.Béguez-Chédiak-Higashi syndrome - Diagnosis.Uniparental disomymedicine.diseaseSNP-array030104 developmental biologyAnomalies cromosòmiquesUniparental Isodisomyhemophagocytic lymphohistiocytosisEnfermedades genéticas - Diagnóstico.lcsh:RC581-607:Genetic Phenomena::Genetic Variation::Mutation::Chromosome Aberrations::Uniparental Disomy [PHENOMENA AND PROCESSES]
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Do next-generation sequencing results drive diagnostic and therapeutic decisions in MDS?

2019

Este artículo se encuentra disponible en la siguiente URL: https://ashpublications.org/bloodadvances/article/3/21/3454/422749/Do-next-generation-sequencing-results-drive

0301 basic medicineSíndromes mielodisplásicos - Aspectos moleculares.Clinical Decision-MakingMEDLINEComputational biologyDNA sequencing03 medical and health sciences0302 clinical medicineText miningHumansMedicineGenetic Predisposition to DiseaseSangre - Células - Aspectos moleculares.Molecular Targeted TherapyGenes.Genetic Association StudiesBlood cells - Molecular aspects.business.industryDecision TreesDisease ManagementHigh-Throughput Nucleotide SequencingGenomicsHematologyPrognosisCombined Modality TherapyMyelodysplastic syndrome - Molecular aspects.030104 developmental biologyMyelodysplastic Syndromes030220 oncology & carcinogenesisMutationPoint-CounterpointMolecular biology.Biología molecular.businessBiomarkersBlood Advances
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Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia

2014

Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (…

AdultMaleAcute promyelocytic leukemiamedicine.medical_specialtyAdolescentOncogene Proteins FusionMicroarrayslcsh:MedicineLoss of HeterozygosityChromosomal translocationBiologyResearch and Analysis MethodsPolymorphism Single NucleotideTranslocation GeneticHematologic Cancers and Related DisordersLoss of heterozygosityYoung AdultLeukemia Promyelocytic AcuteLeukemiasGene duplicationMedicine and Health SciencesmedicineHumanslcsh:ScienceAgedChromosome AberrationsChromosomes Human Pair 15Multidisciplinarylcsh:RBreakpointCytogeneticsBiology and Life SciencesComputational BiologyHematologyMiddle AgedPrognosismedicine.diseaseMolecular biologyLeukemiaBioassays and Physiological AnalysisKaryotypingCancer researchlcsh:QFemaleResearch ArticleChromosomes Human Pair 17SNP arrayPLoS ONE
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