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Items: 1 to 50 of 82

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.

A Successful Collaborative Approach to the Perioperative Management After Hip Arthroscopy of a Patient with Heterozygous Prothrombin G20210A Mutation: A Case Report.

Parsa A, Nazal MR, Stelzer JW, Sieff CA, Martin SD.

JBJS Case Connect. 2019 Apr-Jun;9(2):e0376. doi: 10.2106/JBJS.CC.18.00376.

PMID:
31085938
3.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.

Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. No abstract available.

4.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.

Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):356.

5.

Acquired and Inherited Bone Marrow Failure Syndromes.

Sieff CA.

Hematol Oncol Clin North Am. 2018 Aug;32(4):xiii-xiv. doi: 10.1016/j.hoc.2018.05.001. No abstract available.

PMID:
30047424
6.

Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment.

Li H, Lodish HF, Sieff CA.

Hematol Oncol Clin North Am. 2018 Aug;32(4):701-712. doi: 10.1016/j.hoc.2018.04.005. Epub 2018 Jun 5. Review.

PMID:
30047421
7.

Introduction to Acquired and Inherited Bone Marrow Failure.

Sieff CA.

Hematol Oncol Clin North Am. 2018 Aug;32(4):569-580. doi: 10.1016/j.hoc.2018.04.008. Review.

PMID:
30047411
8.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels DW, Christodoulou J, Fleming MD.

Haematologica. 2018 Dec;103(12):2008-2015. doi: 10.3324/haematol.2017.182659. Epub 2018 Jul 19.

9.

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors.

Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, Humphries JM, DeVine A, Narla A, Alter BP, Beggs AH, Agarwal S, Ebert BL, Gazda HT, Lodish HF, Sieff CA, Schlaeger TM, Zon LI, Daley GQ.

Sci Transl Med. 2017 Feb 8;9(376). pii: eaah5645. doi: 10.1126/scitranslmed.aah5645.

10.

Altered translation of GATA1 in Diamond-Blackfan anemia.

Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG.

Nat Med. 2014 Jul;20(7):748-53. doi: 10.1038/nm.3557. Epub 2014 Jun 22.

11.

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT.

Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30.

12.

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT.

J Clin Invest. 2012 Jul;122(7):2439-43. doi: 10.1172/JCI63597. Epub 2012 Jun 18.

13.

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.

Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.

Hum Mutat. 2012 Jul;33(7):1037-44. doi: 10.1002/humu.22081. Epub 2012 Apr 16.

14.

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.

Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28. Erratum in: Am J Hum Genet. 2010 Apr 9;86(4):655.

15.

Pathogenesis of the erythroid failure in Diamond Blackfan anaemia.

Sieff CA, Yang J, Merida-Long LB, Lodish HF.

Br J Haematol. 2010 Feb;148(4):611-22. doi: 10.1111/j.1365-2141.2009.07993.x. Epub 2009 Dec 1.

16.

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.

Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.

17.

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.

Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC Jr, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ.

Blood. 2008 Sep 1;112(5):1582-92. doi: 10.1182/blood-2008-02-140012. Epub 2008 Jun 5.

18.

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA.

Am J Hum Genet. 2006 Dec;79(6):1110-8. Epub 2006 Nov 2.

19.

Recent insights into the pathogenesis of Diamond-Blackfan anaemia.

Gazda HT, Sieff CA.

Br J Haematol. 2006 Oct;135(2):149-57. Epub 2006 Aug 31. Review.

PMID:
16942586
20.

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

Gazda HT, Kho AT, Sanoudou D, Zaucha JM, Kohane IS, Sieff CA, Beggs AH.

Stem Cells. 2006 Sep;24(9):2034-44. Epub 2006 Jun 1.

21.

Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia.

Quigley JG, Gazda H, Yang Z, Ball S, Sieff CA, Abkowitz JL.

Blood Cells Mol Dis. 2005 Sep-Oct;35(2):189-92.

PMID:
15996880
22.
23.

Accumulation of an intron-retained mRNA for granulocyte macrophage-colony stimulating factor receptor common beta chain in neutrophils of myelodysplastic syndromes.

Shikama Y, Shichishima T, Matsuoka I, Jubinsky PT, Sieff CA, Maruyama Y.

J Leukoc Biol. 2005 May;77(5):811-9. Epub 2005 Feb 22.

PMID:
15728248
24.

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

Gazda HT, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, Zaucha JM, Vlachos A, Atsidaftos E, Viskochil DH, Niemeyer CM, Meerpohl JJ, Rokicka-Milewska R, Pospisilova D, Wiktor-Jedrzejczak W, Nathan DG, Beggs AH, Sieff CA.

Br J Haematol. 2004 Oct;127(1):105-13.

PMID:
15384984
25.

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.

Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA.

Blood. 2001 Apr 1;97(7):2145-50.

PMID:
11264183
26.

Congenital bone marrow failure syndromes.

Sieff CA, Nisbet-Brown E, Nathan DG.

Br J Haematol. 2000 Oct;111(1):30-42. Review. No abstract available.

PMID:
11091180
27.

Maturation and lineage-specific expression of the coxsackie and adenovirus receptor in hematopoietic cells.

Rebel VI, Hartnett S, Denham J, Chan M, Finberg R, Sieff CA.

Stem Cells. 2000;18(3):176-82.

28.

Diamond-Blackfan anemia.

Willig TN, Gazda H, Sieff CA.

Curr Opin Hematol. 2000 Mar;7(2):85-94. Review.

PMID:
10698294
29.

Gene dose-dependent control of hematopoiesis and hematologic tumor suppression by CBP.

Kung AL, Rebel VI, Bronson RT, Ch'ng LE, Sieff CA, Livingston DM, Yao TP.

Genes Dev. 2000 Feb 1;14(3):272-7.

30.

Essential role for the p55 tumor necrosis factor receptor in regulating hematopoiesis at a stem cell level.

Rebel VI, Hartnett S, Hill GR, Lazo-Kallanian SB, Ferrara JL, Sieff CA.

J Exp Med. 1999 Nov 15;190(10):1493-504.

31.

Pure red-cell aplasia.

Nathan DG, Sieff CA.

N Engl J Med. 1999 Jun 24;340(25):2004; author reply 2005. No abstract available.

PMID:
10383281
32.
33.
34.
35.

Diamond-Blackfan anemia.

Krijanovski OI, Sieff CA.

Hematol Oncol Clin North Am. 1997 Dec;11(6):1061-77. Review.

PMID:
9443046
36.

Dye efflux studies suggest that hematopoietic stem cells expressing low or undetectable levels of CD34 antigen exist in multiple species.

Goodell MA, Rosenzweig M, Kim H, Marks DF, DeMaria M, Paradis G, Grupp SA, Sieff CA, Mulligan RC, Johnson RP.

Nat Med. 1997 Dec;3(12):1337-45.

PMID:
9396603
37.

The beta chain of the interleukin-3 receptor functionally associates with the erythropoietin receptor.

Jubinsky PT, Krijanovski OI, Nathan DG, Tavernier J, Sieff CA.

Blood. 1997 Sep 1;90(5):1867-73.

PMID:
9292519
39.

A constitutively activated chimeric cytokine receptor confers factor-independent growth in hematopoietic cell lines.

Shikama Y, Barber DL, D'Andrea AD, Sieff CA.

Blood. 1996 Jul 15;88(2):455-64.

PMID:
8695792
40.

Evidence for a physical association between the Shc-PTB domain and the beta c chain of the granulocyte-macrophage colony-stimulating factor receptor.

Pratt JC, Weiss M, Sieff CA, Shoelson SE, Burakoff SJ, Ravichandran KS.

J Biol Chem. 1996 May 24;271(21):12137-40.

41.
42.

Clonality in juvenile chronic myelogenous leukemia.

Busque L, Gilliland DG, Prchal JT, Sieff CA, Weinstein HJ, Sokol JM, Belickova M, Wayne AS, Zuckerman KS, Sokol L, et al.

Blood. 1995 Jan 1;85(1):21-30.

PMID:
7803795
43.

Expression and function of the human granulocyte-macrophage colony-stimulating factor receptor alpha subunit.

Jubinsky PT, Laurie AS, Nathan DG, Yetz-Aldepe J, Sieff CA.

Blood. 1994 Dec 15;84(12):4174-85.

PMID:
7994031
44.

Hematopoietic cell proliferation and differentiation.

Sieff CA.

Curr Opin Hematol. 1994 Jul;1(4):310-20. Review.

PMID:
9371298
45.

[Regulation of hematopoiesis].

Nathan DH, Sieff CA.

Gematol Transfuziol. 1994 Mar-Apr;39(2):3-10. Review. Russian.

PMID:
8026686
46.
47.
48.

The production of steel factor mRNA in Diamond-Blackfan anaemia long-term cultures and interactions of steel factor with erythropoietin and interleukin-3.

Sieff CA, Yokoyama CT, Zsebo KM, Trammell J, Andersen JW, Nathan DG, Williams DA.

Br J Haematol. 1992 Dec;82(4):640-7.

PMID:
1282827
49.

New hats for hematopoietic hormones.

Sieff CA.

Exp Hematol. 1991 Oct;19(9):857-60. No abstract available.

PMID:
1893960
50.

A functional isoform of the human granulocyte/macrophage colony-stimulating factor receptor has an unusual cytoplasmic domain.

Crosier KE, Wong GG, Mathey-Prevot B, Nathan DG, Sieff CA.

Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7744-8.

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