2015
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer. Journal Of Medical Genetics 2015, 52: 498. PMID: 25908759, DOI: 10.1136/jmedgenet-2015-103076.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingBase SequenceColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairEpigenesis, GeneticGenetic TestingHumansMicrosatellite RepeatsMolecular Sequence DataMutationMutL Protein Homolog 1Nuclear ProteinsPrevalencePromoter Regions, GeneticSequence Analysis, DNAStatistics, NonparametricConceptsColorectal cancerMLH1 expressionConstitutional epimutationsMultiplex ligation-dependent probe amplificationLigation-dependent probe amplificationMethylation-specific multiplex ligation-dependent probe amplificationDiagnosis of CRCConstitutional MLH1 methylationSeries of patientsMismatch repair genesProbe amplificationBethesda guidelinesConsecutive seriesUnselected seriesLynch syndromeUnselected casesUnselected groupGeneral populationUnselected populationPatientsMLH1 methylationNegligible prevalenceGermline alterationsPrevalenceMLH1 epimutations
2011
The CpG island methylator phenotype in colorectal cancer: Progress and problems
Hughes LA, Bakker C, Smits KM, van den Brandt PA, Jonkers D, Ahuja N, Herman JG, Weijenberg MP, van Engeland M. The CpG island methylator phenotype in colorectal cancer: Progress and problems. Biochimica Et Biophysica Acta 2011, 1825: 77-85. PMID: 22056543, DOI: 10.1016/j.bbcan.2011.10.005.Peer-Reviewed Original ResearchConceptsCpG island methylator phenotypeColorectal cancerMethylator phenotypeMolecular pathological epidemiologySporadic colorectal cancerEnvironmental risk factorsPotential clinical importanceMultiple gene panelsOnly original research articlesRisk factorsUnselected seriesInclusion criteriaUnselected casesTrue prevalenceClinical importanceSystematic reviewDisease trendsOriginal research articlesGene panelPrevalenceDistinct subgroupsCancerPrimary causePhenotypeUniversal definition
1988
Mitochondrial enzymes in hereditary ataxias
Sheu K, Blass J, Cedarbaum J, Kim Y, Harding B, DeCicco J. Mitochondrial enzymes in hereditary ataxias. Metabolic Brain Disease 1988, 3: 151-160. PMID: 3185426, DOI: 10.1007/bf01001015.Peer-Reviewed Original ResearchConceptsHereditary ataxiasUnselected seriesCross-reacting materialSecondary decreasePatientsMitochondrial abnormalitiesAtaxiaPyruvate dehydrogenase complexMitochondrial damageMitochondrial enzymesPlateletsNormal fibroblastsGlutamate dehydrogenaseHuman brainAtaxyBrainImmunoblotFibroblastsPathophysiologyActivityAbnormalities
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