2019
Somatic PRKAR1A mutation in sporadic atrial myxoma with cerebral parenchymal metastases: a case report
Roque A, Kimbrough T, Traner C, Baehring JM, Huttner A, Adams J, Canosa S, Sklar J, Madri JA. Somatic PRKAR1A mutation in sporadic atrial myxoma with cerebral parenchymal metastases: a case report. Journal Of Medical Case Reports 2019, 13: 389. PMID: 31874650, PMCID: PMC6930684, DOI: 10.1186/s13256-019-2317-z.Peer-Reviewed Original ResearchMeSH KeywordsBrain NeoplasmsCarney ComplexChemoradiotherapyCyclic AMP-Dependent Protein Kinase RIalpha SubunitDopamine AgentsExome SequencingFemaleGene Expression Regulation, NeoplasticGenes, Tumor SuppressorGerm-Line MutationHeart NeoplasmsHumansIntracranial HemorrhagesMemantineMiddle AgedMyxomaTreatment OutcomeConceptsAtrial myxomaSporadic tumorsExtra-cardiac complicationsMetastatic cardiac myxomaMajority of tumorsDissemination of tumorsIntracranial hemorrhagic lesionsWhole-exome sequencingAutosomal dominant conditionConclusionsOur patientsSporadic myxomasInvasive tumor cellsParenchymal metastasesCardiac myxomaCase reportClinical behaviorHemorrhagic lesionsAneurysm formationBenign neoplasmsMyxomaSporadic lesionsVascular wallCarney complexTumorsGermline mutations
2007
Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis Overlap Associated With a Novel Mutation in Capillary Morphogenesis Protein-2 Gene
Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M. Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis Overlap Associated With a Novel Mutation in Capillary Morphogenesis Protein-2 Gene. American Journal Of Dermatopathology 2007, 29: 99-103. PMID: 17284973, DOI: 10.1097/01.dad.0000245636.39098.e5.Peer-Reviewed Original ResearchMeSH KeywordsAllelesConnective Tissue DiseasesDNAFemaleFibromaGerm-Line MutationHumansHyalinInfantMembrane ProteinsReceptors, PeptideSkinSkin DiseasesConceptsJuvenile hyaline fibromatosisInfantile systemic hyalinosisHyaline fibromatosisCapillary morphogenesis gene 2Painful skin lesionsImpairment of movementNovel mutationsVisceral involvementClinical pictureClinicopathologic findingsRare conditionSkin lesionsSystemic hyalinosisSubcutaneous tissueProtein 2 geneSevere disabilityGermline mutationsFibromatosisDiseaseAllelic diseasesGene 2Unclear natureMutationsHyalinosisLesions