Featured Publications
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Finberg KE, Heeney MM, Campagna DR, Aydınok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature Genetics 2008, 40: 569-571. PMID: 18408718, PMCID: PMC3104019, DOI: 10.1038/ng.130.Peer-Reviewed Original ResearchConceptsIron-refractory iron deficiency anemiaIron deficiency anemia refractoryChronic blood lossOral iron therapyInadequate dietary intakeIron deficiency anemiaIron regulatory hormone hepcidinSystemic iron homeostasisAnemia refractoryIron therapyBlood lossDeficiency anemiaDietary intakeType II transmembrane serine proteaseTransmembrane serine proteaseHormone hepcidinIron deficiencyGermline mutationsTMPRSS6Iron homeostasisSerine proteasesAnemiaTherapyHepcidinMutations
2021
Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review
Irshaid L, Clark M, Fadare O, Finberg KE, Parkash V. Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review. International Journal Of Gynecological Pathology 2021, 41: 258-267. PMID: 33990091, DOI: 10.1097/pgp.0000000000000792.Peer-Reviewed Original ResearchConceptsGermline TP53 mutationsEndometrial carcinomaTP53 mutationsGermline mutationsMissense substitution p.Predominant tumor typePremenopausal breast carcinomaAdrenal cortical tumorsTP53 geneTP53 germline mutationsSoft tissue sarcomasEndometrioid endometrial carcinomaEarly-onset malignanciesLi-Fraumeni syndromeAutosomal dominant disorderCortical tumorsPresenting tumourGynecologic malignanciesTissue sarcomasUterine carcinomaCase reportSpinal cordBreast carcinomaGrade 3Characteristic syndrome