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个人简介

Karin Finberg received her B.S., M.D., and Ph.D. degrees from Yale. Her Ph.D. dissertation with Dr. Richard Lifton in the Department of Genetics focused on the genetic basis of an autosomal recessive disorder of systemic pH homeostasis, distal renal tubular acidosis with sensorineural deafness. After graduating from Yale, Karin completed residency training in Clinical Pathology at Massachusetts General Hospital and clinical fellowship training in the Harvard Medical School Molecular Genetic Pathology Training Program based at Brigham and Women’s Hospital. She then completed postdoctoral research training in the laboratory of Dr. Nancy Andrews, first at Children’s Hospital Boston and later at Duke University Medical Center, where she employed genetic study of patients with an inherited form of iron deficiency anemia to shed insight into mechanisms of systemic iron regulation. In her research laboratory at Yale, Karin continues to investigate mechanisms of iron balance through genetic study of patients with iron-related phenotypes and through characterization of genetically targeted mouse models. She also contributes to patient care as a molecular genetic pathologist in the Molecular Diagnostics Unit of the Department of Pathology. MD Yale School of Medicine (2003) PhD Yale School of Medicine (2002) BS Yale College, Biology (1993) Medical Instructor Duke University Medical Center Sr Research Associate Duke University Medical Center Research Fellow Children’s Hospital Boston Resident Massachusetts General Hospital Clinical Fellow Brigham and Women's Hospital Resident Massachusetts General Hospital Board Certification AB of Pathology, Clinical Pathology (2007) Board Certification AB of Pathology, Molecular Genetic Pathology (2007)

研究领域

Hematologic Diseases; Hemochromatosis; Anemia, Iron-Deficiency; Genetic Diseases, Inborn

近期论文

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Ironing out the role of Toll-like receptors Finberg KE. Ironing out the role of Toll-like receptors. Blood. 2015;125:2183-4. Iron-Refractory Iron Deficiency Anemia (IRIDA) Heeney MM and Finberg KE. Iron-Refractory Iron Deficiency Anemia (IRIDA). Hematol Oncol Clin North Am. 2014;28:637-652. Striking the target in iron overload disorders Finberg KE. Striking the target in iron overload disorders. J Clin Invest 2013;123:1424-7. Regulation of systemic iron homeostasis Finberg KE. Regulation of systemic iron homeostasis. Curr Opin Hematol 2013;20:208-214. Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice Finberg KE, Whittlesey RL, Andrews NC. Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. Blood 2011;117:4590-4599. Unraveling mechanisms regulating systemic iron homeostasis Finberg KE. Unraveling mechanisms regulating systemic iron homeostasis. Hematology Am Soc Hematol Educ Program 2011;2011:532-537. Downregulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis Finberg KE, Whittlesey RL, Fleming MD, Andrews NC. Downregulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood 2010;115:3817-3826. Iron-refractory, iron deficiency anemia Finberg KE. Iron-refractory, iron deficiency anemia. Semin Hematol 2009;46:378-386. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA) Finberg KE, Heeney MM, Campagna DR, Aydinok 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). Nat Genet 2008;40:569-571. Heeney MM, Finberg KE: Iron-refractory iron deficiency anemia (IRIDA). Hematol Oncol Clin North Am. 2014 Aug; 2014 May 28. PMID: 25064705 Finberg KE: Regulation of systemic iron homeostasis. Curr Opin Hematol. 2013 May. PMID: 23426198 Finberg KE: Striking the target in iron overload disorders. J Clin Invest. 2013 Apr; 2013 Mar 25. PMID: 23524962 Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N: Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. Pediatrics. 2013 Feb; 2013 Jan 14. PMID: 23319530 Finberg KE, Whittlesey RL, Andrews NC: Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. Blood. 2011 Apr 28; 2011 Feb 25. PMID: 21355094 Finberg KE: Unraveling mechanisms regulating systemic iron homeostasis. Hematology Am Soc Hematol Educ Program. 2011. PMID: 22160085 Finberg KE, Whittlesey RL, Fleming MD, Andrews NC: Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood. 2010 May 6; 2010 Mar 3. PMID: 20200349

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