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Items: 1 to 50 of 84

1.

IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.

Rubin BY, Anderson SL.

Appl Clin Genet. 2017 Dec 15;10:95-103. doi: 10.2147/TACG.S129638. eCollection 2017. Review.

2.

A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.

Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D, Treff NR, Ekstein J, Rubin BY.

Clin Genet. 2015 Jul;88(1):74-9. doi: 10.1111/cge.12448. Epub 2014 Jul 31.

PMID:
24989235
3.

Cardiac glycosides correct aberrant splicing of IKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3.

Liu B, Anderson SL, Qiu J, Rubin BY.

FEBS J. 2013 Aug;280(15):3632-46. doi: 10.1111/febs.12355. Epub 2013 Jun 18.

4.

Case scenario: perioperative administration of tocotrienols and green tea extract in a child with familial dysautonomia.

Cook-Sather SD, Viola L, Zur KB, Rubin BY.

Anesthesiology. 2012 Sep;117(3):639-45. No abstract available.

PMID:
22850346
5.

Nutraceutical-mediated restoration of wild-type levels of IKBKAP-encoded IKAP protein in familial dysautonomia-derived cells.

Anderson SL, Liu B, Qiu J, Sturm AJ, Schwartz JA, Peters AJ, Sullivan KA, Rubin BY.

Mol Nutr Food Res. 2012 Apr;56(4):570-9. doi: 10.1002/mnfr.201100670.

PMID:
22495984
6.

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.

Jalas C, Anderson SL, Laufer T, Martimucci K, Bulanov A, Xie X, Ekstein J, Rubin BY.

Blood Cells Mol Dis. 2011 Jun 15;47(1):79-83. doi: 10.1016/j.bcmd.2011.03.006. Epub 2011 Apr 13.

PMID:
21489838
7.

A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

Anderson SL, Chung WK, Frezzo J, Papp JC, Ekstein J, DiMauro S, Rubin BY.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S461-7. doi: 10.1007/s10545-008-1049-9. Epub 2008 Dec 26.

PMID:
19107570
8.

Can the therapeutic efficacy of tocotrienols in neurodegenerative familial dysautonomia patients be measured clinically?

Rubin BY, Anderson SL, Kapás L.

Antioxid Redox Signal. 2008 Apr;10(4):837-41. doi: 10.1089/ars.2007.1874. Review.

PMID:
18177231
9.

The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.

Rubin BY, Anderson SL.

Neuromolecular Med. 2008;10(3):148-56. Epub 2007 Nov 6. Review.

PMID:
17985250
10.

Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia.

Anderson SL, Rubin BY.

Biochem Biophys Res Commun. 2005 Oct 14;336(1):150-6.

PMID:
16125677
11.

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D, Webb M, Risch N.

Am J Med Genet A. 2004 Aug 30;129A(2):162-4.

PMID:
15316959
12.

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

Anderson SL, Ekstein J, Donnelly MC, Keefe EM, Toto NR, LeVoci LA, Rubin BY.

Hum Genet. 2004 Aug;115(3):185-90. Epub 2004 Jun 23.

PMID:
15221447
13.

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia.

Anderson SL, Qiu J, Rubin BY.

Biochem Biophys Res Commun. 2003 Oct 17;310(2):627-33.

PMID:
14521957
14.

Hereditary dysautonomias: current knowledge and collaborations for the future.

Cuajungco MP, Ando Y, Axelrod FB, Biaggioni I, Goldstein DS, Guttmacher AE, Gwinn-Hardy K, Hahn MK, Hilz MJ, Jacob G, Jens J, Kennedy WR, Liggett SB, O'Connor DT, Peltzer SR, Robertson D, Rubin BY, Scudder Q, Smith LJ, Sonenshein GE, Svejstrup JQ, Xu Y, Slaugenhaupt SA.

Clin Auton Res. 2003 Jun;13(3):180-95. Review.

PMID:
12822040
15.

Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia.

Anderson SL, Qiu J, Rubin BY.

Biochem Biophys Res Commun. 2003 Jun 20;306(1):303-9.

PMID:
12788105
16.

Genomic organization and chromosomal localization of the mouse IKBKAP gene.

Coli R, Anderson SL, Volpi SA, Rubin BY.

Gene. 2001 Nov 14;279(1):81-9.

PMID:
11722848
17.

Familial dysautonomia is caused by mutations of the IKAP gene.

Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY.

Am J Hum Genet. 2001 Mar;68(3):753-8. Epub 2001 Jan 22.

18.

Genomic organization and chromosomal localization of a new member of the murine interferon-induced guanylate-binding protein family.

Anderson SL, Carton JM, Zhang X, Rubin BY.

J Interferon Cytokine Res. 1999 May;19(5):487-94.

PMID:
10386861
19.
20.

Delivery of human interferon-gamma via gene transfer in vitro: prolonged expression and induction of macrophage antimicrobial activity.

Stoeckle MY, Falck-Pederson E, Rubin BY, Anderson SL, Murray HW.

J Interferon Cytokine Res. 1996 Dec;16(12):1015-9.

PMID:
8974003
21.
22.

The endoplasmic reticular heat shock protein gp96 is transcriptionally upregulated in interferon-treated cells.

Anderson SL, Shen T, Lou J, Xing L, Blachere NE, Srivastava PK, Rubin BY.

J Exp Med. 1994 Oct 1;180(4):1565-9.

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24.

Interferon-inducible gene expression in HL-60 cells: effects of the state of differentiation.

Bandyopadhyay SK, Kumar R, Rubin BY, Sen GC.

Cell Growth Differ. 1992 Jun;3(6):369-75.

25.

TNF and viruses: multiple interrelationships.

Rubin BY.

Immunol Ser. 1992;56:331-40. Review. No abstract available.

PMID:
1550867
26.

Interferon induces tryptophanyl-tRNA synthetase expression in human fibroblasts.

Rubin BY, Anderson SL, Xing L, Powell RJ, Tate WP.

J Biol Chem. 1991 Dec 25;266(36):24245-8.

27.

Isolation of cDNA clones for the interferon-induced 67,000-dalton protein: direct induction of a family of mRNAs by human interferon-alpha and interferon-gamma.

Margolis-Nunno H, Rubin BY, Anderson SL, Lunn RM, Roy SN, Dizik M, Sen GC.

J Interferon Res. 1990 Jun;10(3):309-19.

PMID:
1696608
28.

Experimental visceral leishmaniasis: role of endogenous IFN-gamma in host defense and tissue granulomatous response.

Squires KE, Schreiber RD, McElrath MJ, Rubin BY, Anderson SL, Murray HW.

J Immunol. 1989 Dec 15;143(12):4244-9.

PMID:
2512353
29.

Fragmentation of cellular DNA is a nonspecific indicator of responsiveness to tumor necrosis factor.

Rubin BY, Anderson SL, Lunn RM, Hellermann GR, Smith LJ.

J Biol Response Mod. 1989 Oct;8(5):553-9.

PMID:
2507749
30.
31.

Induction of proteins in interferon-alpha- and interferon-gamma-treated polymorphonuclear leukocytes.

Rubin BY, Anderson SL, Lunn RM, Smith LJ.

J Leukoc Biol. 1989 May;45(5):396-400.

PMID:
2496191
32.

Role of tryptophan degradation in respiratory burst-independent antimicrobial activity of gamma interferon-stimulated human macrophages.

Murray HW, Szuro-Sudol A, Wellner D, Oca MJ, Granger AM, Libby DM, Rothermel CD, Rubin BY.

Infect Immun. 1989 Mar;57(3):845-9.

33.

Synergistic effects of purified recombinant human and murine B cell growth factor-1/IL-4 on colony formation in vitro by hematopoietic progenitor cells. Multiple actions.

Broxmeyer HE, Lu L, Cooper S, Tushinski R, Mochizuki D, Rubin BY, Gillis S, Williams DE.

J Immunol. 1988 Dec 1;141(11):3852-62.

PMID:
3053902
34.

Correlation between the anticellular and DNA fragmenting activities of tumor necrosis factor.

Rubin BY, Smith LJ, Hellermann GR, Lunn RM, Richardson NK, Anderson SL.

Cancer Res. 1988 Nov 1;48(21):6006-10.

35.

The development of antibody to the interferon-induced indoleamine 2,3-dioxygenase and the study of the regulation of its synthesis.

Rubin BY, Anderson SL, Hellermann GR, Richardson NK, Lunn RM, Valinsky JE.

J Interferon Res. 1988 Oct;8(5):691-702.

PMID:
2466915
36.

Tumor necrosis factor and IFN induce a common set of proteins.

Rubin BY, Anderson SL, Lunn RM, Richardson NK, Hellermann GR, Smith LJ, Old LJ.

J Immunol. 1988 Aug 15;141(4):1180-4.

PMID:
2456344
37.

T4+ cell production of interferon gamma and the clinical spectrum of patients at risk for and with acquired immunodeficiency syndrome.

Murray HW, Scavuzzo DA, Kelly CD, Rubin BY, Roberts RB.

Arch Intern Med. 1988 Jul;148(7):1613-6.

PMID:
3132901
38.

Role of L3T4+ and LyT-2+ cells in experimental visceral leishmaniasis.

Stern JJ, Oca MJ, Rubin BY, Anderson SL, Murray HW.

J Immunol. 1988 Jun 1;140(11):3971-7.

PMID:
3131421
39.

Production of a monoclonal antibody directed against an interferon-induced 56,000-dalton protein and its use in the study of this protein.

Rubin BY, Anderson SL, Lunn RM, Hellermann GR, Richardson NK, Smith LJ.

J Virol. 1988 Jun;62(6):1875-80.

40.

The role of gamma interferon in the generation of human macrophages cytotoxic for Entamoeba histolytica trophozoites.

Salata RA, Murray HW, Rubin BY, Ravdin JI.

Am J Trop Med Hyg. 1987 Jul;37(1):72-8.

PMID:
2886071
41.
42.
43.

Nonhematopoietic cells selected for resistance to tumor necrosis factor produce tumor necrosis factor.

Rubin BY, Anderson SL, Sullivan SA, Williamson BD, Carswell EA, Old LJ.

J Exp Med. 1986 Oct 1;164(4):1350-5.

44.
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47.

Activities derived from established human myeloid cell lines reverse the suppression of cell line colony formation by lactoferrin and transferrin.

Broxmeyer HE, Rubin BY, Berman E, Juliano L, Lu L, Hast LJ, Cooper S, Singer JW.

Exp Hematol. 1986 Jan;14(1):51-9.

PMID:
3455916
49.
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