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Bone Marrow Failure Poster II

Sunday, December 7, 2008: 6:00 PM-8:00 PM
Hall A (Moscone Center)
Mutations of the SBDS Gene Result in Nuclear Mislocalization

Masafumi Yamaguchi, PhD1, Kingo Fujimura, MD, PhD1, Hanae Toga-Yamaguchi1*, Valentina Svetic, PhD2*, Naoki Okamura, PhD1* and Rajesh Chopra, PhD3

1Pharmaceutical Sciences, Hiroshima Int'l. Univ., Kure, Japan
2Department of Haematology, University College London, United Kingdom
3Astra Zeneca Pharma., Macclesfield, Cheshire, United Kingdom

GPI-Anchored Protein Deficiency Confers Resistance to Apoptosis in PNH

William J Savage, MD1, James Barber1*, Linzhao Cheng, PhD2*, Guiben Chen, PhD2*, Christopher Thoburn1*, Rong Hu, MD, PhD1*, Galina Mukhina, MD3*, William Matsui, MD4, Allan Hess, PhD1*, Richard Jones5* and Robert A. Brodsky, MD6

1Johns Hopkins University School of Medicine, Baltimore, MD
2Institute for Cell Engineering, Johns Hopkins Univ. School of Med., Baltimore, MD
3John's Hopkins Onc. Ctr., Baltimore, MD
4Oncology, Johns Hopkins University, Baltimore, MD
5Johns Hopkins University, Baltimore, MD
6Johns Hopkins Medical Institute, Baltimore, MD

Reactive Oxygen Species Regulate Spontaneous and Fas-Mediated Apoptosis in SBDS-Deficient Cells

Chhaya Ambekar, PhD1*, Bikul Das2*, Herman Yeger Sr.2* and Yigal Dror, MD3

1Hematology/Oncology, Hospital for Sick Children, Toronto, ON, Canada
2Programme in Developmental and Stem Cell biology, Hospital for Sick Children, Toronto, Canada
3The Hospital for Sick Children, Toronto, ON, Canada

Hemin Augments Growth and Hemoglobinization of Erythroid Precursors Derived from Patients with Diamond-Blackfan Anemia (DBA)

Eitan Fibach, Ph.D1 and Memet Aker, M.D2*

1Hematology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel
2Pediatric Oncology - Hematology and Bone Marrow Transplantation, Hadassah - Hebrew University Medical Center, Jerusalem, Israel

Alemtuzumab Shows Significant Efficacy in T-LGL Leukemia and Refractory Cases Are Due to GPI-Deficiency of LGL Clones

Sanjay R. Mohan, MD1*, Michael Clemente, MS1*, Marcin Wlodarski, MD, PhD2*, Alan E. Lichtin, MD3 and Jaroslaw P. Maciejewski, MD, PhD4

1Experimental Hematology and Hematopoiesis, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH
2Pediatric Hematology, University of Freiburg, Freiburg, Germany
3Hematologic Oncology and Blood Disorders, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH
4Experimental Hematology and Hematopoiesis, Hematologic Oncology and Blood Disorders, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH

Characteristics and Clinical Outcomes of Adult Aplastic Anemia with Abnormal Cytogenetics at Diagnosis

Sung-Yong Kim, MD.1*, Myungshin Kim, MD, PhD2*, Kyungja Han, MD, PhD2*, Seok Lee, MD, PhD3, Mark Hong Lee, MD, PhD1*, Jong-Wook Lee, MD, PhD3*, Woo-Sung Min, MD, PhD3* and Chun-Choo Kim, MD, PhD3*

1Hematology/Oncology, KonKuk University Medical Center, Seoul, South Korea
2Laboratory Medicine, The Catholic University of Korea, Seoul, South Korea
3Dept. of Hematology, Catholic Hematopoietic Stem Cell Transplantation Center, The Catholic University of Korea, Seoul, South Korea

Clonally-Restricted T-Lymphocytes in PigA Mutant Mice

Valeria Visconte, PhD1*, Nalini Raghavachari, PhD2*, Keyvan Keyvanfar1*, Delong Liu, PhD3*, Marie Desierto1*, Jichun Chen, PhD1 and Neal S. Young, MD1

1Hematology Branch, NHLBI, NIH, Bethesda, MD
2Pulmonary and Vascular Branch, NIH, Bethesda, MD
3Mathematical and Statistical Computing Laboratory, DCB, CIT, NIH, Bethesda, MD

Ectopic HOXB4 Overcomes the Inhibitory Effect of TNFα on Hematopoietic Stem and Progenitor Cells in a Murine Fanconi Anemia Model

Michael D. Milsom, PhD1, Bernhard Schiedlmeier, PhD2*, Jeff Bailey3*, Abdullah Ali3*, MiOk Kim, PhD3*, Christopher Baum, MD2, Michael Jansen, PhD3* and David A. Williams, MD4

1Hem./Onc., Children's Hosp. Boston, Boston, MA
2Experimental Hematology, Hannover Medical School, Hannover, Germany
3Experimental Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
4Chief, Div. of Hematology/Oncology, Children's Hospital Boston, Leland Fikes, Boston, MA

Autoantibodies Specific to hnRNP K: A New Diagnostic Marker for Immune Pathophysiology in Bone Marrow Failure Syndromes

Zhirong Qi, M.D.*, Hiroyuki Takamatsu, M.D., PhD, Xuzhang Lu, M.D., Ph, D.*, J. Luis Espinoza, M.D.*, Naomi Sugimori, M.D., Ph, D.*, Kanako Mochizuki, M.D.* and Shinji Nakao, M.D., Ph, D.

Cellular Transplantation Bio., Kanazawa Univ., Kanazawa, Japan

The First Single Center Phenotypic Comparison of Fanconi Anemia, Dyskeratosis Congenita, Diamond-Blackfan Anemia, and Shwachman-Diamond Syndrome: The NCI IBMFS Cohort

Neelam Giri1, Christine Mueller1*, Sarah Weinstein1*, Suvimol Hill2*, John Butman2*, Ekaterini Tsilou3*, Jeffrey Kim Hung4*, Sharon A. Savage1* and Blanche P. Alter1*

1Clinical Genetics Branch, DCEG, National Cancer Institute, Bethesda, MD
2Department of Diagnostic Radiology, National Institutes of Health
3National Eye Institute
4National Institute of Deafness and Other Communication Disorders, Bethesda, MD

Yeast Models of Diamond Blackfan Anemia and Shwachman Diamond Syndrome Differ in Their Effect on the Synthesis and Function of Ribosomal Subunits

Steven R Ellis, PhD1, Joseph B. Moore IV1*, Johnson M. Liu, MD2, Robert J. Arceci, MD, PhD3 and Jason E. Farrar, MD4*

1University of Louisville, Louisville, KY
2Department of Pediatrics, The Feinstein Institute for Medical Research, Manhasset, NY
3Bunting-Blaustein Cancer Research Building, Sidney Kimmel CCC at Johns Hopkins, Baltimore, MD
4Johns Hopkins Medical Institute, Baltimore, MD

Depletion of the Shwachman-Diamond Syndrome Gene Product, SBDS, Leads to Growth Inhibition and Increased Expression of OPG and VEGFA

Abdallah Nihrane, PhD1*, Gulay Sezgin, MD1*, Sehba Dsilva, MD1*, Steven Ellis, PhD2 and Johnson M. Liu, MD1

1Department of Pediatrics, The Feinstein Institute for Medical Research, Manhasset, NY
2Department of Biochemistry, University of Louisville, Louisville, KY

Depletion of the Shwachman-Diamond Syndrome Protein in Hematopoietic Progenitor Cells Impairs Growth, Colony Formation, and Ribosome Function

Gulay Sezgin, MD1*, Abdallah Nihrane, PhD1*, Steven Ellis, PhD2 and Johnson M. Liu, MD1

1Department of Pediatrics, The Feinstein Institute for Medical Research, Manhasset, NY
2Department of Biochemistry, University of Louisville, Louisville, KY

*signifies non-member of ASH