2021
SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data
Prashant N, Alomran N, Chen Y, Liu H, Bousounis P, Movassagh M, Edwards N, Horvath A. SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data. BMC Genomics 2021, 22: 689. PMID: 34551708, PMCID: PMC8459565, DOI: 10.1186/s12864-021-07974-8.Peer-Reviewed Original ResearchConceptsSomatic mutationsNovel somatic mutationsBackgroundRecent studiesVariant allele fractionIntra-tumoral heterogeneityVariant allelesNeuroblastoma samplesCell-level expressionCancer studiesExpression signaturesAllele fractionRegions of KRASNormal cellsType of studySmall proportionCellsExpression
2019
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis
Atzmony L, Khan HM, Lim YH, Paller AS, Levinsohn JL, Holland KE, Mirza FN, Yin E, Ko CJ, Leventhal JS, Choate KA. Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. JAMA Dermatology 2019, 155: 548-555. PMID: 30942823, PMCID: PMC6506890, DOI: 10.1001/jamadermatol.2019.0016.Peer-Reviewed Original ResearchConceptsLinear porokeratosisLesional skinWhole-exome sequencingAffected tissue samplesSomatic copy-neutral lossAcademic medical centerLines of BlaschkoSomatic mutationsT mutationNovel germline mutationPostzygotic somatic mutationsNovel somatic mutationsCoronoid lamellaBlood/saliva samplesGermline splice site mutationHistologic diagnosisHistologic examinationKeratotic papulesMedical CenterMAIN OUTCOMEAffected skinTherapeutic interventionsPorokeratosisWhorled configurationCopy-neutral loss
2015
Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype
Scholl UI, Healy JM, Thiel A, Fonseca AL, Brown TC, Kunstman JW, Horne MJ, Dietrich D, Riemer J, Kücükköylü S, Reimer EN, Reis AC, Goh G, Kristiansen G, Mahajan A, Korah R, Lifton RP, Prasad ML, Carling T. Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype. Clinical Endocrinology 2015, 83: 779-789. PMID: 26252618, PMCID: PMC4995792, DOI: 10.1111/cen.12873.Peer-Reviewed Original ResearchConceptsAldosterone-producing adenomaAdrenal hyperplasiaHyperplastic adrenal glandsUnilateral adrenal hyperplasiaClinical pathological featuresBilateral adrenal hyperplasiaSomatic mutationsNovel somatic mutationsPredominant histologySecondary hypertensionPrimary hyperaldosteronismRetrospective studyAdrenal glandPathological characteristicsMale genderClear cellsCACNA1D mutationsComputed tomographyImportant causeTumorsKCNJ5HyperplasiaAdenomasExome sequencingPathological phenotypes
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