Recent Publications

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.Khan AW, Kennedy A, Furutani E, Myers K, Frattini A, Acquati F, Roccia P, Micheloni G, Minelli A, Porta G, Cipolli M, Cesaro S, Danesino C, Pasquali F, Shimamura A, Valli R.Mol Cytogenet. 2021 Nov 24;14(1):54. doi: 10.1186/s13039-021-00575-w.PMID: 34819134

Translational research for bone marrow failure patients.Malouf C, Loughran SJ, Wilkinson AC, Shimamura A, Río P.Exp Hematol. 2022 Jan;105:18-21. doi: 10.1016/j.exphem.2021.11.004. Epub 2021 Nov 18.PMID: 34801643 Review.

Hematologic complications with age in Shwachman-Diamond syndrome.Furutani E, Liu S, Galvin A, Steltz S, Malsch MM, Loveless SK, Mount L, Larson JH, Queenan K, Bertuch AA, Fleming MD, Gansner JM, Geddis AE, Hanna R, Keel SB, Lau BW, Lipton JM, Lorsbach R, Nakano TA, Vlachos A, Wang WC, Davies SM, Weller E, Myers KC, Shimamura A.Blood Adv. 2022 Jan 11;6(1):297-306. doi: 10.1182/bloodadvances.2021005539.PMID: 34758064

Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA.Am J Hematol. 2022 Jan 1;97(1):18-29. doi: 10.1002/ajh.26382. Epub 2021 Nov 3.PMID: 34677878

Autophagy In Mesenchymal Progenitors Protects Mice Against Bone Marrow Failure After Severe Intermittent Stress.Landspersky T, Saçma M, Rivière J, Hecker JS, Hettler F, Hameister E, Brandstetter K, Istvanffy R, Romero Marquez S, Ludwig R, Götz M, Buck MC, Wolf M, Schiemann M, Ruland J, Strunk D, Shimamura A, Myers KC, Yamaguchi TP, Kieslinger M, Leonhardt H, Bassermann F, Götze KS, Geiger H, Schreck C, Oostendorp RAJ.Blood. 2021 Oct 17:blood.2021011775. doi: 10.1182/blood.2021011775. Online ahead of print.PMID: 34657154

Association of unbalanced translocation der(1;7) with germline GATA2 mutations.Kozyra EJ, Göhring G, Hickstein DD, Calvo KR, DiNardo CD, Dworzak M, de Haas V, Starý J, Hasle H, Shimamura A, Fleming MD, Inaba H, Lewis S, Hsu AP, Holland SM, Arnold DE, Mecucci C, Keel SB, Bertuch AA, Tawana K, Barzilai S, Hirabayashi S, Onozawa M, Lei S, Alaiz H, Andrikovics H, Betts D, Beverloo BH, Buechner J, Čermák M, Cervera J, Haus O, Jahnukainen K, Manola KN, Nebral K, Pasquali F, Tchinda J, Turkiewicz D, Van Roy N, Zemanova Z, Pastor VB, Strahm B, Noellke P, Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MW.Blood. 2021 Dec 9;138(23):2441-2445. doi: 10.1182/blood.2021012781.PMID: 34469508 No abstract available.

Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.Shimano KA, Narla A, Rose MJ, Gloude NJ, Allen SW, Bergstrom K, Broglie L, Carella BA, Castillo P, de Jong JLO, Dror Y, Geddis AE, Huang JN, Lau BW, McGuinn C, Nakano TA, Overholt K, Rothman JA, Sharathkumar A, Shereck E, Vlachos A, Olson TS, Bertuch AA, Wlodarski MW, Shimamura A, Boklan J.Am J Hematol. 2021 Nov 1;96(11):1491-1504. doi: 10.1002/ajh.26310. Epub 2021 Aug 20.PMID: 34342889

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, Briones M, Dickerson KE, Fernandez CV, Farah R, Hasle H, Keel SB, Olson TS, Powers JM, Rose MJ, Shimamura A, Bottomley SS, Fleming MD.Hum Mutat. 2021 Nov;42(11):1367-1383. doi: 10.1002/humu.24267. Epub 2021 Aug 5.PMID: 34298585

Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome.Shimamura A.Best Pract Res Clin Haematol. 2021 Mar;34(1):101252. doi: 10.1016/j.beha.2021.101252. Epub 2021 Feb 6.PMID: 33762106 Review.

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.Kennedy AL, Myers KC, Bowman J, Gibson CJ, Camarda ND, Furutani E, Muscato GM, Klein RH, Ballotti K, Liu S, Harris CE, Galvin A, Malsch M, Dale D, Gansner JM, Nakano TA, Bertuch A, Vlachos A, Lipton JM, Castillo P, Connelly J, Churpek J, Edwards JR, Hijiya N, Ho RH, Hofmann I, Huang JN, Keel S, Lamble A, Lau BW, Norkin M, Stieglitz E, Stock W, Walkovich K, Boettcher S, Brendel C, Fleming MD, Davies SM, Weller EA, Bahl C, Carter SL, Shimamura A*, Lindsley RC*.Nat Commun. 2021 Feb 26;12(1):1334. doi: 10.1038/s41467-021-21588-4.PMID: 33637765 *Equal contribution

Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.Rao S, Yao Y, Soares de Brito J, Yao Q, Shen AH, Watkinson RE, Kennedy AL, Coyne S, Ren C, Zeng J, Serbin AV, Studer S, Ballotti K, Harris CE, Luk K, Stevens CS, Armant M, Pinello L, Wolfe SA, Chiarle R, Shimamura A, Lee B, Newburger PE, Bauer DE.Cell Stem Cell. 2021 May 6;28(5):833-845.e5. doi: 10.1016/j.stem.2020.12.015. Epub 2021 Jan 28.PMID: 33513358

Inhibition of TGFβ1 and TGFβ3 promotes hematopoiesis in Fanconi anemia.Rodríguez A, Yang C, Furutani E, García de Teresa B, Velázquez M, Filiatrault J, Sambel LA, Phan T, Flores-Guzmán P, Sánchez S, Monsiváis Orozco A, Mayani H, Bolukbasi OV, Färkkilä A, Epperly M, Greenberger J, Shimamura A, Frías S, Grompe M, Parmar K, D'Andrea AD.Exp Hematol. 2021 Jan;93:70-84.e4. doi: 10.1016/j.exphem.2020.11.002. Epub 2020 Nov 7.PMID: 33166613

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE.JAMA Cardiol. 2021 Apr 1;6(4):457-462. doi: 10.1001/jamacardio.2020.4947.PMID: 33084842

Repolarization of HSC attenuates HSCs failure in Shwachman-Diamond syndrome.Kumar S, Nattamai KJ, Hassan A, Amoah A, Karns R, Zhang C, Liang Y, Shimamura A, Florian MC, Bissels U, Luevano M, Bosio A, Davies SM, Mulaw M, Geiger H, Myers KC.Leukemia. 2021 Jun;35(6):1751-1762. doi: 10.1038/s41375-020-01054-8. Epub 2020 Oct 19.PMID: 33077869

An induced pluripotent stem cell model of Fanconi anemia reveals mechanisms of p53-driven progenitor cell differentiation.Marion W, Boettcher S, Ruiz-Torres S, Lummertz da Rocha E, Lundin V, Morris V, Chou S, Zhao AM, Kubaczka C, Aumais O, Zhang Y, Shimamura A, Schlaeger TM, North TE, Ebert BL, Wells SI, Daley GQ, Rowe RG.Blood Adv. 2020 Oct 13;4(19):4679-4692. doi: 10.1182/bloodadvances.2020001593.PMID: 33002135

MYC Promotes Bone Marrow Stem Cell Dysfunction in Fanconi Anemia.Rodríguez A, Zhang K, Färkkilä A, Filiatrault J, Yang C, Velázquez M, Furutani E, Goldman DC, García de Teresa B, Garza-Mayén G, McQueen K, Sambel LA, Molina B, Torres L, González M, Vadillo E, Pelayo R, Fleming WH, Grompe M, Shimamura A, Hautaniemi S, Greenberger J, Frías S, Parmar K, D'Andrea AD.Cell Stem Cell. 2021 Jan 7;28(1):33-47.e8. doi: 10.1016/j.stem.2020.09.004. Epub 2020 Sep 29.PMID: 32997960

Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium.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.Pediatr Blood Cancer. 2020 Oct;67(10):e28652. doi: 10.1002/pbc.28652. Epub 2020 Aug 11.PMID: 32779892

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.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.Pediatr Blood Cancer. 2020 Oct;67(10):e28444. doi: 10.1002/pbc.28444. Epub 2020 Aug 9.PMID: 32776425 Clinical Trial.

Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.Furutani E, Shah AS, Zhao Y, Andorsky D, Dedeoglu F, Geddis A, Zhou Y, Libermann TA, Myers KC, Shimamura A.Am J Med Genet A. 2020 Jul;182(7):1754-1760. doi: 10.1002/ajmg.a.61593. Epub 2020 Apr 15.PMID: 32293785

On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology.Chou DB, Frismantas V, Milton Y, David R, Pop-Damkov P, Ferguson D, MacDonald A, Vargel Bölükbaşı 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.Nat Biomed Eng. 2020 Apr;4(4):477. doi: 10.1038/s41551-020-0529-6.PMID: 32051581

Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.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.Lancet Haematol. 2020 Mar;7(3):e238-e246. doi: 10.1016/S2352-3026(19)30206-6. Epub 2019 Dec 23.PMID: 31879230

Genetic predisposition to MDS: diagnosis and management.Furutani E, Shimamura A.Hematology Am Soc Hematol Educ Program. 2019 Dec 6;2019(1):110-119. doi: 10.1182/hematology.2019000021.PMID: 31808839

TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome.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.J Clin Invest. 2019 Jun 18;129(9):3821-3826. doi: 10.1172/JCI125375.PMID: 31211692

Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells.Ruiz-Gutierrez M, Bölükbaşı ÖV, Alexe G, Kotini AG, Ballotti K, Joyce CE, Russell DW, Stegmaier K, Myers K, Novina CD, Papapetrou EP, Shimamura A.JCI Insight. 2019 Apr 30;5(12):e125157. doi: 10.1172/jci.insight.125157.PMID: 31039138

Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study.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.Haematologica. 2019 Oct;104(10):1974-1983. doi: 10.3324/haematol.2018.206540. Epub 2019 Apr 4.PMID: 30948484 Clinical Trial.

Genetic predisposition to MDS: clinical features and clonal evolution.Kennedy AL, Shimamura A.Blood. 2019 Mar 7;133(10):1071-1085. doi: 10.1182/blood-2018-10-844662. Epub 2019 Jan 22.PMID: 30670445

Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy.Chisholm KM, Denton C, Keel S, Geddis AE, Xu M, Appel BE, Cantor AB, Fleming MD, Shimamura A.Pediatr Dev Pathol. 2019 Jul-Aug;22(4):315-328. doi: 10.1177/1093526618822108. Epub 2019 Jan 2.PMID: 30600763

Neutropenia in the age of genetic testing: Advances and challenges.Furutani E, Newburger PE, Shimamura A.Am J Hematol. 2019 Mar;94(3):384-393. doi: 10.1002/ajh.25374. Epub 2019 Jan 8.PMID: 30536760 Review.

Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).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.Hum Mol Genet. 2019 Jan 1;28(1):133-142. doi: 10.1093/hmg/ddy334.PMID: 30247636

Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.Gansner JM, Furutani E, Campagna DR, Fleming MD, Shimamura A.Am J Hematol. 2018 Sep;93(9):1194-1195. doi: 10.1002/ajh.25155. Epub 2018 Sep 6.PMID: 29885000

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