Harvard Catalyst Profiles

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Akiko Shimamura, M.D., Ph.D.

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Mentoring
Mutations in the SBDS Gene
Summer, 06/20/05 - 08/12/05

Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. RC2DK122533 (SHIMAMURA, AKIKO) Sep 15, 2019 - Jun 30, 2024
    NIH/NIDDK
    Systems Biology of Bone Marrow Failure and MDS for Precision Medicine
    Role: Principal Investigator
  2. U01HL134812 (DALEY, GEORGE Q) Sep 23, 2016 - May 31, 2023
    NIH/NHLBI
    Stem cells for therapeutics discovery in genetic blood disorders
    Role: Co-Principal Investigator
  3. R24DK099808 (SHIMAMURA, AKIKO) Sep 29, 2013 - Aug 31, 2018
    NIH/NIDDK
    Translational Studies of Inherited Marrow Failure and Myelodysplastic Syndromes
    Role: Co-Principal Investigator
  4. R24DK093425 (ABKOWITZ, JANIS L) Sep 1, 2012 - Aug 31, 2013
    NIH/NIDDK
    Clinical and Molecular Characterization of Familial Marrow Failure Syndrome
    Role: Co-Principal Investigator
  5. RC1HL100270 (SHIMAMURA, AKIKO) Sep 30, 2009 - Jun 30, 2013
    NIH/NHLBI
    Towards a Model of Fanconi Anemia
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Nakano TA, Lau BW, Dickerson KE, Wlodarski M, Pollard J, Shimamura A, Hofmann I, Sasa G, Elghetany T, Cada M, Dror Y, Ding H, Allen SW, Hanna R, Campbell K, Olson TS. Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium. Pediatr Blood Cancer. 2020 Aug 11; e28652. PMID: 32779892.
    Citations:    
  2. Pulsipher MA, Lehmann LE, Bertuch AA, Sasa G, Olson T, Nakano T, Gilio A, Burroughs LM, Lipton JM, Huang JN, Dickerson K, Bertaina A, Zhuang C, Malsch M, Fleming M, Weller E, Shimamura A, Williams DA. A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium. Pediatr Blood Cancer. 2020 Aug 09; e28444. PMID: 32776425.
    Citations:    
  3. Furutani E, Shah AS, Zhao Y, Andorsky D, Dedeoglu F, Geddis A, Zhou Y, Libermann TA, Myers KC, Shimamura A. Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype. Am J Med Genet A. 2020 07; 182(7):1754-1760. PMID: 32293785.
    Citations:    
  4. Chou DB, Frismantas V, Milton Y, David R, Pop-Damkov P, Ferguson D, MacDonald A, Vargel Bölükbasi Ö, Joyce CE, Moreira Teixeira LS, Rech A, Jiang A, Calamari E, Jalili-Firoozinezhad S, Furlong BA, O'Sullivan LR, Ng CF, Choe Y, Marquez S, Myers KC, Weinberg OK, Hasserjian RP, Novak R, Levy O, Prantil-Baun R, Novina CD, Shimamura A, Ewart L, Ingber DE. Author Correction: On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology. Nat Biomed Eng. 2020 Apr; 4(4):477. PMID: 32051581.
    Citations:    
  5. Chou DB, Frismantas V, Milton Y, David R, Pop-Damkov P, Ferguson D, MacDonald A, Vargel Bölükbasi Ö, Joyce CE, Moreira Teixeira LS, Rech A, Jiang A, Calamari E, Jalili-Firoozinezhad S, Furlong BA, O'Sullivan LR, Ng CF, Choe Y, Marquez S, Myers KC, Weinberg OK, Hasserjian RP, Novak R, Levy O, Prantil-Baun R, Novina CD, Shimamura A, Ewart L, Ingber DE. On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology. Nat Biomed Eng. 2020 04; 4(4):394-406. PMID: 31988457.
    Citations:    
  6. Myers KC, Furutani E, Weller E, Siegele B, Galvin A, Arsenault V, Alter BP, Boulad F, Bueso-Ramos C, Burroughs L, Castillo P, Connelly J, Davies SM, DiNardo CD, Hanif I, Ho RH, Karras N, Manalang M, McReynolds LJ, Nakano TA, Nalepa G, Norkin M, Oberley MJ, Orgel E, Pastore YD, Rosenthal J, Walkovich K, Larson J, Malsch M, Elghetany MT, Fleming MD, Shimamura A. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Lancet Haematol. 2020 Mar; 7(3):e238-e246. PMID: 31879230.
    Citations:    
  7. Furutani E, Shimamura A. Genetic predisposition to MDS: diagnosis and management. Hematology Am Soc Hematol Educ Program. 2019 12 06; 2019(1):110-119. PMID: 31808839.
    Citations:    
  8. Rao S, Brito-Frazao J, Serbin AV, Yao Q, Luk K, Wu Y, Zeng J, Ren C, Watkinson R, Armant M, Pinello L, Shimamura A, Lee B, Wolfe SA, Newburger PE, Bauer DE. Gene Editing ELANE in Human Hematopoietic Stem and Progenitor Cells Reveals Disease Mechanisms and Therapeutic Strategies for Severe Congenital Neutropenia. Blood. 2019 Nov 13; 134(Supplement_1):3. PMID: 31723993.
    Citations:    
  9. Joyce CE, Saadatpour A, Ruiz-Gutierrez M, Bolukbasi OV, Jiang L, Thomas DD, Young S, Hofmann I, Sieff CA, Myers KC, Whangbo J, Libermann TA, Nusbaum C, Yuan GC, Shimamura A, Novina CD. TGFß signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome. J Clin Invest. 2019 06 18; 129(9):3821-3826. PMID: 31211692.
    Citations:    
  10. Ruiz-Gutierrez M, Bölükbasi ÖV, Alexe G, Kotini AG, Ballotti K, Joyce CE, Russell DW, Stegmaier K, Myers K, Novina CD, Papapetrou EP, Shimamura A. Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells. JCI Insight. 2019 04 30; 5. PMID: 31039138.
    Citations:    
  11. Rogers ZR, Nakano TA, Olson TS, Bertuch AA, Wang W, Gillio A, Coates TD, Chawla A, Castillo P, Kurre P, Gamper C, Bennett CM, Joshi S, Geddis AE, Boklan J, Nalepa G, Rothman JA, Huang JN, Kupfer GM, Cada M, Glader B, Walkovich KJ, Thompson AA, Hanna R, Vlachos A, Malsch M, Weller EA, Williams DA, Shimamura A. Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study. Haematologica. 2019 10; 104(10):1974-1983. PMID: 30948484.
    Citations:    
  12. Kennedy AL, Shimamura A. Genetic predisposition to MDS: clinical features and clonal evolution. Blood. 2019 03 07; 133(10):1071-1085. PMID: 30670445.
    Citations:    Fields:    
  13. Furutani E, Newburger PE, Shimamura A. Neutropenia in the age of genetic testing: Advances and challenges. Am J Hematol. 2019 03; 94(3):384-393. PMID: 30536760.
    Citations:    Fields:    
  14. Chisholm KM, Denton C, Keel S, Geddis AE, Xu M, Appel BE, Cantor AB, Fleming MD, Shimamura A. Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. Pediatr Dev Pathol. 2019 Jul-Aug; 22(4):315-328. PMID: 30600763.
    Citations:    Fields:    
  15. Seo A, Gulsuner S, Pierce S, Ben-Harosh M, Shalev H, Walsh T, Krasnov T, Dgany O, Doulatov S, Tamary H, Shimamura A, King MC. Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE). Hum Mol Genet. 2019 01 01; 28(1):133-142. PMID: 30247636.
    Citations:    Fields:    
  16. Gansner JM, Furutani E, Campagna DR, Fleming MD, Shimamura A. Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. Am J Hematol. 2018 09; 93(9):1194-1195. PMID: 29885000.
    Citations:    Fields:    
  17. Kamihara J, Shimamura A. It's ALL in the Family: IKZF1 and Hereditary Leukemia. Cancer Cell. 2018 05 14; 33(5):798-800. PMID: 29763621.
    Citations:    Fields:    
  18. Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H, King MC. Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. Proc Natl Acad Sci U S A. 2018 05 15; 115(20):5241-5246. PMID: 29712865.
    Citations:    Fields:    Translation:HumansCells
  19. Whiteaker JR, Zhao L, Ivey RG, Sanchez-Bonilla M, Moore HD, Schoenherr RM, Yan P, Lin C, Shimamura A, Paulovich AG. Targeted mass spectrometry enables robust quantification of FANCD2 mono-ubiquitination in response to DNA damage. DNA Repair (Amst). 2018 05; 65:47-53. PMID: 29605812.
    Citations:    Fields:    Translation:HumansCells
  20. Dale DC, Bolyard A, Marrero T, Makaryan V, Bonilla M, Link DC, Newburger P, Shimamura A, Boxer LA, Spiekerman C. Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia. N Engl J Med. 2017 12 07; 377(23):2290-2292. PMID: 29211670.
    Citations:    Fields:    Translation:Humans
  21. Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW. Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7. Haematologica. 2018 03; 103(3):427-437. PMID: 29217778.
    Citations: 1     Fields:    
  22. Nakamura T, Oshima M, Yasuda M, Shimamura A, Morita J, Uegaki K. Alteration of molecular assembly of peroxiredoxins from hyperthermophilic archaea. J Biochem. 2017 Dec 01; 162(6):415-422. PMID: 28992240.
    Citations:    Fields:    Translation:Cells
  23. Xia J, Miller CA, Baty J, Ramesh A, Jotte MRM, Fulton RS, Vogel TP, Cooper MA, Walkovich KJ, Makaryan V, Bolyard AA, Dinauer MC, Wilson DB, Vlachos A, Myers KC, Rothbaum RJ, Bertuch AA, Dale DC, Shimamura A, Boxer LA, Link DC. Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018 01 25; 131(4):408-416. PMID: 29092827.
    Citations: 3     Fields:    
  24. Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest. 2017 Nov 01; 127(11):4090-4103. PMID: 28972538.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  25. Gansner JM, Achebe MM, Gray KJ, Yefidoff-Freedman R, Labovitis E, Parnes A, Connors JM, Connell NT, Discenza MN, Handin RI, Berliner N, Shimamura A, Ginsburg ES, Smith NA. Pregnancy outcomes in inherited bone marrow failure syndromes. Blood. 2017 10 05; 130(14):1671-1674. PMID: 28798157.
    Citations: 1     Fields:    Translation:Humans
  26. Godley LA, Shimamura A. Genetic predisposition to hematologic malignancies: management and surveillance. Blood. 2017 07 27; 130(4):424-432. PMID: 28600339.
    Citations: 5     Fields:    Translation:Humans
  27. Burroughs LM, Shimamura A, Talano JA, Domm JA, Baker KK, Delaney C, Frangoul H, Margolis DA, Baker KS, Nemecek ER, Geddis AE, Sandmaier BM, Deeg HJ, Storb R, Woolfrey AE. Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders. Biol Blood Marrow Transplant. 2017 Oct; 23(10):1669-1677. PMID: 28602958.
    Citations: 1     Fields:    Translation:HumansCTClinical Trials
  28. Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J, Hoenig M, Pannicke U, Lorenz M, Schwarz K, Stockklausner C, Walsh T, Gulsuner S, Lee MK, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A. Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin. Blood. 2017 08 17; 130(7):875-880. PMID: 28559357.
    Citations: 2     Fields:    Translation:HumansCells
  29. Hock H, Shimamura A. ETV6 in hematopoiesis and leukemia predisposition. Semin Hematol. 2017 04; 54(2):98-104. PMID: 28637624.
    Citations: 1     Fields:    Translation:Humans
  30. Furutani E, Shimamura A. Germline Genetic Predisposition to Hematologic Malignancy. J Clin Oncol. 2017 Mar 20; 35(9):1018-1028. PMID: 28297620.
    Citations: 5     Fields:    Translation:Humans
  31. Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T, Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA. Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017 01; 49(1). PMID: 27824607.
    Citations: 4     Fields:    Translation:HumansCells
  32. Burwick N, Zhang MY, de la Puente P, Azab AK, Hyun TS, Ruiz-Gutierrez M, Sanchez-Bonilla M, Nakamura T, Delrow JJ, MacKay VL, Shimamura A. The eIF2-alpha kinase HRI is a novel therapeutic target in multiple myeloma. Leuk Res. 2017 04; 55:23-32. PMID: 28119225.
    Citations: 2     Fields:    Translation:HumansCells
  33. Shimamura A. Aplastic anemia and clonal evolution: germ line and somatic genetics. Hematology Am Soc Hematol Educ Program. 2016 Dec 02; 2016(1):74-82. PMID: 27913465.
    Citations: 5     Fields:    Translation:Humans
  34. Mamrak NE, Shimamura A, Howlett NG. Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. Blood Rev. 2017 05; 31(3):93-99. PMID: 27760710.
    Citations: 26     Fields:    Translation:HumansCells
  35. Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. J Pediatr Hematol Oncol. 2016 10; 38(7):e260-2. PMID: 27258031.
    Citations:    Fields:    Translation:Humans
  36. Rojek K, Nickels E, Neistadt B, Marquez R, Wickrema A, Artz A, van Besien K, Larson RA, Lee MK, Segal JP, King MC, Walsh T, Shimamura A, Keel SB, Churpek JE, Godley LA. Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy. Biol Blood Marrow Transplant. 2016 11; 22(11):2100-2103. PMID: 27497531.
    Citations: 8     Fields:    Translation:Humans
  37. Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King MC, Walsh T, Shimamura A. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica. 2016 11; 101(11):1343-1350. PMID: 27418648.
    Citations: 15     Fields:    Translation:Humans
  38. Seo A, Walsh T, Lee MK, Ho PA, Hsu EK, Sidbury R, King MC, Shimamura A. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Pancreas. 2016 07; 45(6):858-62. PMID: 26495788.
    Citations: 1     Fields:    Translation:HumansCells
  39. Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 06 02; 98(6):1146-1158. PMID: 27259050.
    Citations: 16     Fields:    Translation:HumansCells
  40. Yang Z, Keel SB, Shimamura A, Liu L, Gerds AT, Li HY, Wood BL, Scott BL, Abkowitz JL. Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. Sci Transl Med. 2016 05 11; 8(338):338ra67. PMID: 27169803.
    Citations: 7     Fields:    Translation:HumansCells
  41. Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood. 2016 Feb 25; 127(8):1017-23. PMID: 26712909.
    Citations: 24     Fields:    Translation:Humans
  42. Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17; 126(25):2734-8. PMID: 26491070.
    Citations: 8     Fields:    Translation:HumansCells
  43. Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo A, Edmonson M, Zhang MY, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin SM, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE, Offit K. Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. PLoS Genet. 2015 Jun; 11(6):e1005262. PMID: 26102509.
    Citations: 18     Fields:    Translation:HumansCells
  44. Scott A, Glover J, Skoda-Smith S, Torgerson TR, Xu M, Burroughs LM, Woolfrey AE, Fleming MD, Shimamura A. Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. Pediatr Blood Cancer. 2015 Nov; 62(11):2047-9. PMID: 26011426.
    Citations:    Fields:    Translation:Humans
  45. Ryan TD, Jefferies JL, Chin C, Sticka JJ, Taylor MD, Harris R, Moore J, Goodridge E, Mount L, Bolyard AA, Otto B, Jones A, Shimamura A, Davies S, Myers K. Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. Pediatr Blood Cancer. 2015 Jul; 62(7):1228-31. PMID: 25732529.
    Citations: 1     Fields:    Translation:Humans
  46. Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015 Feb; 47(2):180-5. PMID: 25581430.
    Citations: 51     Fields:    Translation:HumansCells
  47. Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015 Jan; 22(1):3-11. PMID: 25427142.
    Citations: 13     Fields:    Translation:HumansAnimals
  48. Stumpff J, Ghule PN, Shimamura A, Stein JL, Greenblatt M. Spindle microtubule dysfunction and cancer predisposition. J Cell Physiol. 2014 Dec; 229(12):1881-3. PMID: 24905602.
    Citations: 4     Fields:    Translation:HumansCells
  49. Zhang MY, Keel SB, Walsh T, Lee MK, Gulsuner S, Watts AC, Pritchard CC, Salipante SJ, Jeng MR, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, King MC, Shimamura A. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica. 2015 Jan; 100(1):42-8. PMID: 25239263.
    Citations: 31     Fields:    Translation:Humans
  50. Ruggero D, Shimamura A. Marrow failure: a window into ribosome biology. Blood. 2014 Oct 30; 124(18):2784-92. PMID: 25237201.
    Citations: 30     Fields:    Translation:HumansAnimalsCells
  51. Burroughs LM, Nemecek ER, Torgerson TR, Storer BE, Talano JA, Domm J, Giller RH, Shimamura A, Delaney C, Skoda-Smith S, Thakar MS, Baker KS, Rawlings DJ, Englund JA, Flowers ME, Deeg HJ, Storb R, Woolfrey AE. Treosulfan-based conditioning and hematopoietic cell transplantation for nonmalignant diseases: a prospective multicenter trial. Biol Blood Marrow Transplant. 2014 Dec; 20(12):1996-2003. PMID: 25196857.
    Citations: 7     Fields:    Translation:HumansCTClinical Trials
  52. Myers KC, Bolyard AA, Otto B, Wong TE, Jones AT, Harris RE, Davies SM, Dale DC, Shimamura A. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr. 2014 Apr; 164(4):866-70. PMID: 24388329.
    Citations: 27     Fields:    Translation:Humans
  53. Williams DA, Bennett C, Bertuch A, Bessler M, Coates T, Corey S, Dror Y, Huang J, Lipton J, Olson TS, Reiss UM, Rogers ZR, Sieff C, Vlachos A, Walkovich K, Wang W, Shimamura A. Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Pediatr Blood Cancer. 2014 May; 61(5):869-74. PMID: 24285674.
    Citations: 4     Fields:    Translation:Humans
  54. Bellodi C, McMahon M, Contreras A, Juliano D, Kopmar N, Nakamura T, Maltby D, Burlingame A, Savage SA, Shimamura A, Ruggero D. H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation. Cell Rep. 2013 May 30; 3(5):1493-502. PMID: 23707062.
    Citations: 27     Fields:    Translation:HumansCells
  55. Tulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ. Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. Cell Stem Cell. 2013 Jun 06; 12(6):727-36. PMID: 23602541.
    Citations: 24     Fields:    Translation:HumansCells
  56. Allenspach EJ, Bellodi C, Jeong D, Kopmar N, Nakamura T, Ochs HD, Ruggero D, Skoda-Smith S, Shimamura A, Torgerson TR. Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. J Allergy Clin Immunol. 2013 Jul; 132(1):223-6. PMID: 23403051.
    Citations: 4     Fields:    Translation:Humans
  57. Myers KC, Davies SM, Shimamura A. Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. Hematol Oncol Clin North Am. 2013 Feb; 27(1):117-28, ix. PMID: 23351992.
    Citations: 22     Fields:    Translation:HumansCells
  58. Burwick N, Coats SA, Nakamura T, Shimamura A. Impaired ribosomal subunit association in Shwachman-Diamond syndrome. Blood. 2012 Dec 20; 120(26):5143-52. PMID: 23115272.
    Citations: 17     Fields:    Translation:HumansCells
  59. Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM. Breast cancer in a case of Shwachman Diamond syndrome. Pediatr Blood Cancer. 2012 Nov; 59(5):945-6. PMID: 22213587.
    Citations: 4     Fields:    Translation:Humans
  60. Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood. 2012 Feb 02; 119(5):1283-91. PMID: 22147895.
    Citations: 71     Fields:    Translation:HumansAnimalsCells
  61. Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011 Dec; 1242:40-55. PMID: 22191555.
    Citations: 29     Fields:    Translation:Humans
  62. Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA. Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene. Am J Med Genet A. 2011 Jul; 155A(7):1673-9. PMID: 21626672.
    Citations: 4     Fields:    Translation:HumansCells
  63. Burwick N, Shimamura A, Liu JM. Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. Semin Hematol. 2011 Apr; 48(2):136-43. PMID: 21435510.
    Citations: 13     Fields:    Translation:HumansCells
  64. Marro K, Otto R, Kolokythas O, Shimamura A, Sanders JE, McDonald GB, Friedman SD. A simulation-based comparison of two methods for determining relaxation rates from relaxometry images. Magn Reson Imaging. 2011 May; 29(4):497-506. PMID: 21333480.
    Citations: 1     Fields:    Translation:Humans
  65. Huang JN, Shimamura A. Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. Curr Opin Hematol. 2011 Jan; 18(1):30-5. PMID: 21124213.
    Citations: 7     Fields:    Translation:Humans
  66. Wong TE, Calicchio ML, Fleming MD, Shimamura A, Harris MH. SBDS protein expression patterns in the bone marrow. Pediatr Blood Cancer. 2010 Sep; 55(3):546-9. PMID: 20658628.
    Citations: 4     Fields:    Translation:HumansCells
  67. Parmar K, Kim J, Sykes SM, Shimamura A, Stuckert P, Zhu K, Hamilton A, Deloach MK, Kutok JL, Akashi K, Gilliland DG, D'andrea A. Hematopoietic stem cell defects in mice with deficiency of Fancd2 or Usp1. Stem Cells. 2010 Jul; 28(7):1186-95. PMID: 20506303.
    Citations: 51     Fields:    Translation:AnimalsCells
  68. Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Boxer LA, Dror Y, Kinsey S, Link DC, Newburger PE, Shimamura A, Welte K, Dale DC. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol. 2010 Jul; 150(2):196-9. PMID: 20456363.
    Citations: 30     Fields:    Translation:Humans
  69. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010 May; 24(3):101-22. PMID: 20417588.
    Citations: 103     Fields:    Translation:Humans
  70. Tulpule A, Lensch MW, Miller JD, Austin K, D'Andrea A, Schlaeger TM, Shimamura A, Daley GQ. Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage. Blood. 2010 Apr 29; 115(17):3453-62. PMID: 20089964.
    Citations: 31     Fields:    Translation:HumansCells
  71. Sakamoto KM, Shimamura A, Davies SM. Congenital disorders of ribosome biogenesis and bone marrow failure. Biol Blood Marrow Transplant. 2010 Jan; 16(1 Suppl):S12-7. PMID: 19770060.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  72. Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009 Apr; 23(2):233-48. PMID: 19327581.
    Citations: 30     Fields:    Translation:Humans
  73. Shimamura A. Clinical approach to marrow failure. Hematology Am Soc Hematol Educ Program. 2009; 329-37. PMID: 20008218.
    Citations: 5     Fields:    Translation:Humans
  74. Du HY, Pumbo E, Ivanovich J, An P, Maziarz RT, Reiss UM, Chirnomas D, Shimamura A, Vlachos A, Lipton JM, Goyal RK, Goldman F, Wilson DB, Mason PJ, Bessler M. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood. 2009 Jan 08; 113(2):309-16. PMID: 18931339.
    Citations: 58     Fields:    Translation:HumansCells
  75. Shimamura A. Diamond-Blackfan anemia: a new facet. Blood. 2008 Sep 01; 112(5):1552-3. PMID: 18725571.
    Citations:    Fields:    
  76. Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ. Disease-specific induced pluripotent stem cells. Cell. 2008 Sep 05; 134(5):877-86. PMID: 18691744.
    Citations: 763     Fields:    Translation:HumansCells
  77. Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008 Sep; 142(6):859-76. PMID: 18671700.
    Citations: 117     Fields:    Translation:Humans
  78. Kayed H, Bekasi S, Keleg S, Welsch T, Esposito I, Shimamura A, Michalski CW, Friess H, Kleeff J. Expression of the Shwachman-Bodian-Diamond syndrome (SBDS) protein in human pancreatic cancer and chronic pancreatitis. Histol Histopathol. 2008 07; 23(7):819-26. PMID: 18437680.
    Citations: 1     Fields:    Translation:HumansCells
  79. Ganapathi KA, Shimamura A. Ribosomal dysfunction and inherited marrow failure. Br J Haematol. 2008 May; 141(3):376-87. PMID: 18410571.
    Citations: 19     Fields:    Translation:HumansCells
  80. Austin KM, Gupta ML, Coats SA, Tulpule A, Mostoslavsky G, Balazs AB, Mulligan RC, Daley G, Pellman D, Shimamura A. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest. 2008 Apr; 118(4):1511-8. PMID: 18324336.
    Citations: 30     Fields:    Translation:HumansCells
  81. Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood. 2007 Sep 01; 110(5):1458-65. PMID: 17475909.
    Citations: 49     Fields:    Translation:HumansCellsCTClinical Trials
  82. Kennedy RD, Chen CC, Stuckert P, Archila EM, De la Vega MA, Moreau LA, Shimamura A, D'Andrea AD. Fanconi anemia pathway-deficient tumor cells are hypersensitive to inhibition of ataxia telangiectasia mutated. J Clin Invest. 2007 May; 117(5):1440-9. PMID: 17431503.
    Citations: 61     Fields:    Translation:HumansAnimalsCells
  83. Shimamura A. Shwachman-Diamond syndrome. Semin Hematol. 2006 Jul; 43(3):178-88. PMID: 16822460.
    Citations: 23     Fields:    Translation:Humans
  84. Shimamura A. Inherited bone marrow failure syndromes: molecular features. Hematology Am Soc Hematol Educ Program. 2006; 63-71. PMID: 17124042.
    Citations: 9     Fields:    Translation:Humans
  85. Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005 Aug 15; 106(4):1253-8. PMID: 15860664.
    Citations: 34     Fields:    Translation:HumansCells
  86. Soulier J, Leblanc T, Larghero J, Dastot H, Shimamura A, Guardiola P, Esperou H, Ferry C, Jubert C, Feugeas JP, Henri A, Toubert A, Socié G, Baruchel A, Sigaux F, D'Andrea AD, Gluckman E. Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway. Blood. 2005 Feb 01; 105(3):1329-36. PMID: 15383454.
    Citations: 27     Fields:    Translation:Humans
  87. Hirsch B, Shimamura A, Moreau L, Baldinger S, Hag-alshiekh M, Bostrom B, Sencer S, D'Andrea AD. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood. 2004 Apr 01; 103(7):2554-9. PMID: 14670928.
    Citations: 43     Fields:    Translation:Humans
  88. Shimamura A, D'Andrea AD. Subtyping of Fanconi anemia patients: implications for clinical management. Blood. 2003 Nov 01; 102(9):3459. PMID: 14568911.
    Citations: 3     Fields:    Translation:Humans
  89. Shimamura A, Montes de Oca R, Svenson JL, Haining N, Moreau LA, Nathan DG, D'Andrea AD. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood. 2002 Dec 15; 100(13):4649-54. PMID: 12393398.
    Citations: 25     Fields:    Translation:HumansCells
  90. D'Andrea AD, Dahl N, Guinan EC, Shimamura A. Marrow failure. Hematology Am Soc Hematol Educ Program. 2002; 58-72. PMID: 12446419.
    Citations: 3     Fields:    Translation:Humans
  91. Nielsen-Bohlman L, Ciranni M, Shimamura AP, Knight RT. Impaired word-stem priming in patients with temporal-occipital lesions. Neuropsychologia. 1997 Aug; 35(8):1087-92. PMID: 9256373.
    Citations: 1     Fields:    Translation:Humans
  92. Shimamura AP. Memory and the prefrontal cortex. Ann N Y Acad Sci. 1995 Dec 15; 769:151-9. PMID: 8595022.
    Citations: 33     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.