2023
FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.Peer-Reviewed Original ResearchConceptsHereditary connective tissue disordersConnective tissue disordersKyphoscoliotic Ehlers-Danlos syndromeTissue disordersEhlers-Danlos syndromeLarsen syndromeClinical diagnosisGenetic testingHereditary cancer predisposition syndromesSignificant vascular eventsPremenopausal breast cancerPast medical historyHomozygous pathogenic variantCancer predisposition syndromeWhole-exome sequencingMolecular genetic testingCardiovascular eventsCarotid dissectionVascular eventsCardiovascular manifestationsCase reportMedical historyRecent diagnosisBreast cancerEarly diagnosis
2017
Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients
Couto PP, Bastos-Rodrigues L, Schayek H, Melo FM, Lisboa RGC, Miranda DM, Vilhena A, Bale AE, Friedman E, De Marco L. Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients. Carcinogenesis 2017, 38: 1112-1118. PMID: 28968711, DOI: 10.1093/carcin/bgx089.Peer-Reviewed Original ResearchConceptsCell lung cancer patientsLung cancer patientsLung cancerSmoking statusCancer patientsWhole-exome sequencingGermline mutationsTP53 mutationsTP53 germline mutationsCell lung cancerCancer-related mortalityDistinct pathogenic mutationsMajor risk factorTumor-derived DNAMultiple cancer typesSmoker patientsGermline missense variantsNovel sequence variantsRisk factorsLeading causeR337H TP53 mutationLC pathogenesisSame patientLC casesPatients
2011
Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma
Ferrucci LM, Cartmel B, Molinaro AM, Gordon PB, Leffell DJ, Bale AE, Mayne ST. Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma. Journal Of Investigative Dermatology 2011, 132: 1272-1279. PMID: 22158557, PMCID: PMC3305835, DOI: 10.1038/jid.2011.402.Peer-Reviewed Original ResearchConceptsDermatopathology databaseSkin reactionsCase statusBasal cell carcinoma incidenceMelanocortin 1 receptor gene variantsNon-synonymous variantsBenign skin conditionsBasal cell carcinomaReceptor gene variantsCarcinoma incidenceCell carcinomaBCC riskEpidemiologic studiesSelf-reported phenotypesLower riskSkin conditionsBCC casesSkin cancerOlder populationYoung individualsGene variantsPhenotype-genotype interactionsHost characteristicsPhenotype characteristicSkin color
2010
A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents
Santoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Calí AM, Narayan D, Shaw MM, Pierpont B, Savoye M, Lartaud D, Eldrich S, Cushman SW, Zhao H, Shulman GI, Caprio S. A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology 2010, 52: 1281-1290. PMID: 20803499, PMCID: PMC3221304, DOI: 10.1002/hep.23832.Peer-Reviewed Original ResearchConceptsPatatin-like phospholipase 3 geneNonalcoholic fatty liver diseaseFatty liver diseaseG alleleHepatic steatosisLiver diseaseLow leptinObese youthPeripheral glucose disposal rateAdipogenesis/lipogenesisHepatic glucose production ratePNPLA3 G alleleGlucose disposal ratePeripheral insulin resistanceSingle nucleotide polymorphismsSirtuin 1 expressionSubcutaneous fat biopsiesHepatic fat contentAdipocyte cell sizeSubset of subjectsAdipose cell sizeMagnetic resonance imagingAfrican AmericansCommon variantsExpression of PNPLA3
2006
PGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer
Risch HA, Bale AE, Beck PA, Zheng W. PGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer. Cancer Epidemiology Biomarkers & Prevention 2006, 15: 1738-1741. PMID: 16985038, DOI: 10.1158/1055-9965.epi-06-0272.Peer-Reviewed Original ResearchConceptsOvarian cancerA allelePostmenopausal womenProgesterone receptor gene polymorphismHistologic tumor typePopulation-based studyEpithelial ovarian cancerEffect of progesteroneReceptor gene polymorphismsPremenopausal womenEndometrial cancerMenopausal statusOral contraceptivesOvarian neoplasiaProgesterone receptorProgestin exposureG genotypeGG genotypeGene polymorphismsTumor typesReceptor isoformsCancerWomenRiskProgesterone
2005
Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused
Cooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, McGrath JM, Bale AE. Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused. Development 2005, 132: 4407-4417. PMID: 16155214, DOI: 10.1242/dev.02021.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBody PatterningGenetic Predisposition to DiseaseGenotypeHeart Defects, CongenitalHedgehog ProteinsIntracellular Signaling Peptides and ProteinsMembrane ProteinsMiceMice, Inbred C57BLMice, TransgenicMutationNeoplasmsNeural Tube DefectsPatched ReceptorsPatched-1 ReceptorReceptors, Cell SurfaceRepressor ProteinsSignal TransductionTrans-ActivatorsConceptsNegative regulatorDpc embryosHh pathwayTargeted disruptionSuppressor of FusedDorsoventral patterningExcess HhCompound mutantsEmbryonic developmentSomatic cellsFused geneLeft-right asymmetryDevelopmental defectsNodal expressionMutantsNeural tubeLaterality defectsHedgehog pathwayTumor predispositionNegative modulatorSuppressorCancer developmentDevelopmental abnormalitiesNode developmentPathway
1999
Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children
Heptulla R, Schwartz R, Bale A, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. The Journal Of Pediatrics 1999, 135: 327-331. PMID: 10484798, DOI: 10.1016/s0022-3476(99)70129-0.Peer-Reviewed Original ResearchConceptsMedullary thyroid carcinomaFamilial medullary thyroid carcinomaRET geneLymph node metastasisMutation-positive family membersC-cell hyperplasiaEvidence of pathologyDecades of lifeFamily membersGenotype-phenotype correlationCodon 618Node metastasisProvocative testingClinical spectrumCodon 804Extracellular cysteine-rich regionPathologic manifestationsThyroid carcinomaNormal responseGenetic testingCarcinomaChildrenPresymptomatic diagnosisExon 14Microscopic evidence
1991
Predictive testing for Wilson's disease using tightly linked and flanking DNA markers.
Farrer L, Bowcock A, Hebert J, Bonne-Tamir B, Sternlieb I, Giagheddu M, George-Hyslop P, Frydman M, Lossner J, Demelia L, Carcassi C, Lee R, Beker R, Bale A, Donis-Keller H, Scheinberg I, Cavalli-Sforza L. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology 1991, 41: 992-9. PMID: 2067662, DOI: 10.1212/wnl.41.7.992.Peer-Reviewed Original ResearchThe CEPH consortium linkage map of human chromosome 1
Dracopoli N, O'Connell P, Elsner T, Lalouel J, White R, Buetow K, Nishimura D, Murray J, Helms C, Mishra S, Donis-Keller H, Hall J, Lee M, King M, Attwood J, Morton N, Robson E, Mahtani M, Willard H, Royle N, Patel I, Jeffreys A, Verga V, Jenkins T, Weber J, Mitchell A, Bale A. The CEPH consortium linkage map of human chromosome 1. Genomics 1991, 9: 686-700. PMID: 2037294, DOI: 10.1016/0888-7543(91)90362-i.Peer-Reviewed Original Research