Search results for " Retinoblastoma"

showing 3 items of 13 documents

No evidence for sequences structurally related to the RB1 gene in the human genome.

1991

The retinoblastoma (RB1) gene is a ubiquitously expressed gene encoding a cell-cycle control protein. Inactivation of this gene plays a crucial role in the development of retinoblastoma, osteosarcoma, and other tumors. In a search for structurally related gene sequences we identified a 5.5-kb BamHI fragment strongly cross-hybridizing with the 5′ end of the RB1 cDNA. Molecular cloning, in situ hybridization, restriction mapping, and sequence analysis identified this DNA segment as the 28S rRNA gene. The absence of other cross-hybridizing sequences suggests that the RB1 gene is not part of a structurally related gene family.

Therapeutic gene modulationGeneticsBase SequenceGenome HumanMolecular Sequence DataRestriction MappingPair-rule geneGene targetingBiologyDNA Ribosomaleye diseasesGene productBlotting SouthernGene mappingSequence Homology Nucleic AcidGene clusterRNA Ribosomal 28SGeneticsGene familyHumansGenes RetinoblastomaGenetics (clinical)Regulator geneHuman genetics
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Adénocarcinome de la glande lacrymale dans un rétinoblastome bilatéral traité avec radiothérapie externe : à propos d’un cas

2011

This clinical case report describes the clinical findings and diagnosis of lacrimal gland adenocarcinoma that developed 20 years after external beam radiotherapy in the treatment of bilateral retinoblastoma. Visual acuity, slit lamp biomicroscopy, fundus color photography, nuclear magnetic resonance, lateral orbitotomy and histological analysis are described.

Visual acuityRadiotherapygenetic structuresLacrimal Gland AdenocarcinomaSettore MED/30 - Malattie Apparato Visivobusiness.industrymedicine.medical_treatmentFundus (eye)eye diseasesRadiation therapyBilateral retinoblastomaOphthalmologyLateral orbitotomyAdenocarcinoma of the lacrimal gland; Radiotherapy; Bilateral retinoblastomaAdenocarcinoma of the lacrimal glandmedicinesense organsExternal beam radiotherapyBilateral retinoblastomaSlit lamp biomicroscopymedicine.symptombusinessNuclear medicineJournal Français d'Ophtalmologie
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Does the evidence matter in medicine? The retinoblastoma paradigm.

2007

Retinoblastoma (Rb) is the most common intraocular malignant tumour in childhood, with an incidence of 1 in 15,000 live births. Complete information on this rare tumour can be easily accessed through the internet, although many aspect concerning the aetiology and pathogenesis of the disease, are still controversial. The "two hit" theory, formulated in 1971 to explain the variegated clinical expression of the disease, is based on the idea that single gene mutation may determine the development of cancer. However, this view does not take into account the most recent evidences showing the role of aneuploidy and chromosome instability in cancer. Also, a number of other genes and epigenetic mech…

microsatelliteCancer Researchtwo hit theoryAneuploidyDiseaseBiologymedicine.disease_causeBioinformaticsEpigenesis GeneticAge DistributionChromosome instabilityChromosomal InstabilitymedicineHumansGenetic Predisposition to DiseaseGeneticsEvidence-Based MedicineRetinoblastomaInfant NewbornRetinoblastomaCancerInfantmedicine.diseaseAneuploidyinstabilitySettore BIO/18 - GeneticaOncologyHereditary RetinoblastomaMutationEtiologyMicrosatellite Instabilitychromosome instabilityCarcinogenesisInternational journal of cancer
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