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Items: 1 to 50 of 222

1.

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;130:3821-3826. doi: 10.1172/JCI125375.

2.

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. pii: 125157. doi: 10.1172/jci.insight.125157.

3.

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients.

Chasseuil E, McGrath JA, Seo A, Balguerie X, Bodak N, Chasseuil H, Denis-Musquer M, Goldenberg A, Goussot R, Irvine AD, Khumalo NP, King MC, Küry S, Lipsker D, Mallet S, Mayosi BM, Nanda A, Puzenat E, Salort-Campana E, Sidbury R, Shimamura A, Bézieau S, Mercier S, Barbarot S.

Br J Dermatol. 2019 Oct;181(4):862-864. doi: 10.1111/bjd.17996. Epub 2019 Apr 10. No abstract available.

PMID:
30972747
4.

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.

5.

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. Review.

PMID:
30670445
6.

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
7.

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
8.

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
9.

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. No abstract available.

10.

It's ALL in the Family: IKZF1 and Hereditary Leukemia.

Kamihara J, Shimamura A.

Cancer Cell. 2018 May 14;33(5):798-800. doi: 10.1016/j.ccell.2018.04.008.

11.

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.

Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H, King MC.

Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30.

12.

Targeted mass spectrometry enables robust quantification of FANCD2 mono-ubiquitination in response to DNA damage.

Whiteaker JR, Zhao L, Ivey RG, Sanchez-Bonilla M, Moore HD, Schoenherr RM, Yan P, Lin C, Shimamura A, Paulovich AG.

DNA Repair (Amst). 2018 May;65:47-53. doi: 10.1016/j.dnarep.2018.03.003. Epub 2018 Mar 21.

13.

FADS2 inhibition in essential fatty acid deficiency induces hepatic lipid accumulation via impairment of very low-density lipoprotein (VLDL) secretion.

Hayashi Y, Shimamura A, Ishikawa T, Fujiwara Y, Ichi I.

Biochem Biophys Res Commun. 2018 Feb 5;496(2):549-555. doi: 10.1016/j.bbrc.2018.01.064. Epub 2018 Jan 17.

PMID:
29353041
14.

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

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.

Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7.

15.

Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia.

Dale DC, Bolyard A, Marrero T, Makaryan V, Bonilla M, Link DC, Newburger P, Shimamura A, Boxer LA, Spiekerman C.

N Engl J Med. 2017 Dec 7;377(23):2290-2292. doi: 10.1056/NEJMc1709258. No abstract available.

16.

Somatic mutations and clonal hematopoiesis in congenital neutropenia.

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.

Blood. 2018 Jan 25;131(4):408-416. doi: 10.1182/blood-2017-08-801985. Epub 2017 Nov 1.

17.

Mistakes, Too Few to Mention? Impaired Self-conscious Emotional Processing of Errors in the Behavioral Variant of Frontotemporal Dementia.

Scherling CS, Zakrzewski J, Datta S, Levenson RW, Shimamura AP, Sturm VE, Miller BL, Rosen HJ.

Front Behav Neurosci. 2017 Oct 17;11:189. doi: 10.3389/fnbeh.2017.00189. eCollection 2017.

18.

Alteration of molecular assembly of peroxiredoxins from hyperthermophilic archaea.

Nakamura T, Oshima M, Yasuda M, Shimamura A, Morita J, Uegaki K.

J Biochem. 2017 Dec 1;162(6):415-422. doi: 10.1093/jb/mvx045.

PMID:
28992240
19.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

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.

J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.

20.

Pregnancy outcomes in inherited bone marrow failure syndromes.

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.

Blood. 2017 Oct 5;130(14):1671-1674. doi: 10.1182/blood-2017-08-798462. Epub 2017 Aug 10. No abstract available.

21.

ETV6 in hematopoiesis and leukemia predisposition.

Hock H, Shimamura A.

Semin Hematol. 2017 Apr;54(2):98-104. doi: 10.1053/j.seminhematol.2017.04.005. Epub 2017 Apr 7. Review.

22.

Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders.

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.

Biol Blood Marrow Transplant. 2017 Oct;23(10):1669-1677. doi: 10.1016/j.bbmt.2017.06.002. Epub 2017 Jun 7.

23.

Genetic predisposition to hematologic malignancies: management and surveillance.

Godley LA, Shimamura A.

Blood. 2017 Jul 27;130(4):424-432. doi: 10.1182/blood-2017-02-735290. Epub 2017 Jun 9. Review.

24.

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.

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.

Blood. 2017 Aug 17;130(7):875-880. doi: 10.1182/blood-2017-02-768036. Epub 2017 May 30.

25.

Germline Genetic Predisposition to Hematologic Malignancy.

Furutani E, Shimamura A.

J Clin Oncol. 2017 Mar 20;35(9):1018-1028. doi: 10.1200/JCO.2016.70.8644. Epub 2017 Feb 13. Review.

26.

The eIF2-alpha kinase HRI is a novel therapeutic target in multiple myeloma.

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.

Leuk Res. 2017 Apr;55:23-32. doi: 10.1016/j.leukres.2017.01.007. Epub 2017 Jan 12.

27.

Aplastic anemia and clonal evolution: germ line and somatic genetics.

Shimamura A.

Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):74-82. Review.

28.

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.

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.

Eur Respir J. 2017 Jan 25;49(1). pii: 1601640. doi: 10.1183/13993003.01640-2016. Print 2017 Jan. No abstract available.

29.

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King MC, Walsh T, Shimamura A.

Haematologica. 2016 Nov;101(11):1343-1350. Epub 2016 Jul 14.

30.

Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.

Mamrak NE, Shimamura A, Howlett NG.

Blood Rev. 2017 May;31(3):93-99. doi: 10.1016/j.blre.2016.10.002. Epub 2016 Oct 13. Review.

31.

[A Case of Autoimmune Pancreatitis Showing Characteristic Histological Change of Major Duodenal Papilla and Small Intestine after Steroid Therapy].

Shimamura A, Imamoto E, Ose T, Horie R, Bito N, Sendo R, Kishimoto E, Ono T, Ando T.

Nihon Naika Gakkai Zasshi. 2016 Oct;105(10):2012-9. Japanese. No abstract available.

PMID:
30178961
32.

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy.

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.

Biol Blood Marrow Transplant. 2016 Nov;22(11):2100-2103. doi: 10.1016/j.bbmt.2016.08.002. Epub 2016 Aug 4.

33.

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

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.

Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009.

34.

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

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.

J Pediatr Hematol Oncol. 2016 Oct;38(7):e260-2. doi: 10.1097/MPH.0000000000000587.

35.

Sensing kuuki among visiting nurses.

Shimamura A, Suwa S, Tsujimura M.

Int J Nurs Pract. 2016 Apr;22 Suppl 1:31-7. doi: 10.1111/ijn.12437.

PMID:
27184700
36.

Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome.

Yang Z, Keel SB, Shimamura A, Liu L, Gerds AT, Li HY, Wood BL, Scott BL, Abkowitz JL.

Sci Transl Med. 2016 May 11;8(338):338ra67. doi: 10.1126/scitranslmed.aaf3006.

37.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

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.

Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28.

38.

FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.

Seo A, Walsh T, Lee MK, Ho PA, Hsu EK, Sidbury R, King MC, Shimamura A.

Pancreas. 2016 Jul;45(6):858-62. doi: 10.1097/MPA.0000000000000529.

39.

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

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.

Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21.

40.

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.

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.

PLoS Genet. 2015 Jun 23;11(6):e1005262. doi: 10.1371/journal.pgen.1005262. eCollection 2015 Jun.

41.

Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.

Scott A, Glover J, Skoda-Smith S, Torgerson TR, Xu M, Burroughs LM, Woolfrey AE, Fleming MD, Shimamura A.

Pediatr Blood Cancer. 2015 Nov;62(11):2047-9. doi: 10.1002/pbc.25587. Epub 2015 May 22.

42.

Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction.

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.

Pediatr Blood Cancer. 2015 Jul;62(7):1228-31. doi: 10.1002/pbc.25456. Epub 2015 Mar 2.

43.

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

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.

Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12.

44.

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

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.

Curr Opin Hematol. 2015 Jan;22(1):3-11. doi: 10.1097/MOH.0000000000000105. Review.

45.

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

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.

Haematologica. 2015 Jan;100(1):42-8. doi: 10.3324/haematol.2014.113456. Epub 2014 Sep 19.

46.

Marrow failure: a window into ribosome biology.

Ruggero D, Shimamura A.

Blood. 2014 Oct 30;124(18):2784-92. doi: 10.1182/blood-2014-04-526301. Epub 2014 Sep 18. Review.

47.

Treosulfan-based conditioning and hematopoietic cell transplantation for nonmalignant diseases: a prospective multicenter trial.

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.

Biol Blood Marrow Transplant. 2014 Dec;20(12):1996-2003. doi: 10.1016/j.bbmt.2014.08.020. Epub 2014 Sep 6.

48.

Spindle microtubule dysfunction and cancer predisposition.

Stumpff J, Ghule PN, Shimamura A, Stein JL, Greenblatt M.

J Cell Physiol. 2014 Dec;229(12):1881-3. doi: 10.1002/jcp.24691.

49.

Improved control of exogenous attention in action video game players.

Cain MS, Prinzmetal W, Shimamura AP, Landau AN.

Front Psychol. 2014 Feb 10;5:69. doi: 10.3389/fpsyg.2014.00069. eCollection 2014.

50.

Metacognition in the behavioral variant of frontotemporal dementia and Alzheimer's disease.

Rosen HJ, Alcantar O, Zakrzewski J, Shimamura AP, Neuhaus J, Miller BL.

Neuropsychology. 2014 May;28(3):436-47. doi: 10.1037/neu0000012. Epub 2014 Feb 17.

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