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Items: 1 to 50 of 113

1.

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.

Mangum JE, Hardee JP, Fix DK, Puppa MJ, Elkes J, Altomare D, Bykhovskaya Y, Campagna DR, Schmidt PJ, Sendamarai AK, Lidov HG, Barlow SC, Fischel-Ghodsian N, Fleming MD, Carson JA, Patton JR.

Sci Rep. 2016 May 20;6:26202. doi: 10.1038/srep26202.

2.

Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.

Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N.

Mol Genet Metab. 2009 Aug;97(4):297-304. doi: 10.1016/j.ymgme.2009.05.003. Epub 2009 May 13.

3.

Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.

Sibert BS, Fischel-Ghodsian N, Patton JR.

RNA. 2008 Sep;14(9):1895-906. doi: 10.1261/rna.984508. Epub 2008 Jul 22.

4.
5.

Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).

Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N.

Mol Genet Metab. 2007 Jun;91(2):148-56. Epub 2007 Mar 19.

6.

Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling.

Zhao X, Patton JR, Ghosh SK, Fischel-Ghodsian N, Shen L, Spanjaard RA.

Mol Endocrinol. 2007 Mar;21(3):686-99. Epub 2006 Dec 14.

PMID:
17170069
7.

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N.

Am J Hum Genet. 2006 Aug;79(2):291-302. Epub 2006 Jun 22.

8.

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.

Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX.

Biochem Biophys Res Commun. 2006 Apr 21;342(4):1130-6. Epub 2006 Feb 23.

PMID:
16513084
9.

Mitochondrial dysfunction in hearing loss.

Fischel-Ghodsian N, Kopke RD, Ge X.

Mitochondrion. 2004 Sep;4(5-6):675-94. Epub 2004 Nov 6.

PMID:
16120424
11.

Cu/Zn superoxide dismutase and age-related hearing loss.

Keithley EM, Canto C, Zheng QY, Wang X, Fischel-Ghodsian N, Johnson KR.

Hear Res. 2005 Nov;209(1-2):76-85. Epub 2005 Aug 1.

12.

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.

Zeharia A, Fischel-Ghodsian N, Casas K, Bykhocskaya Y, Tamari H, Lev D, Mimouni M, Lerman-Sagie T.

J Child Neurol. 2005 May;20(5):449-52.

PMID:
15971356
13.

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.

Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N.

J Biol Chem. 2005 May 20;280(20):19823-8. Epub 2005 Mar 16.

14.

Genetic factors in aminoglycoside toxicity.

Fischel-Ghodsian N.

Pharmacogenomics. 2005 Jan;6(1):27-36. Review.

PMID:
15723603
15.

Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids.

Li X, Zhang LS, Fischel-Ghodsian N, Guan MX.

Biochem Biophys Res Commun. 2005 Mar 11;328(2):491-8.

PMID:
15694374
16.

mt-Nd2 Allele of the ALR/Lt mouse confers resistance against both chemically induced and autoimmune diabetes.

Mathews CE, Leiter EH, Spirina O, Bykhovskaya Y, Gusdon AM, Ringquist S, Fischel-Ghodsian N.

Diabetologia. 2005 Feb;48(2):261-7. Epub 2005 Feb 4.

PMID:
15692809
17.

Lipoprotein lipase locus and progression of atherosclerosis in coronary-artery bypass grafts.

Taylor KD, Scheuner MT, Yang H, Wang Y, Haritunians T, Fischel-Ghodsian N, Shah PK, Forrester JS, Knatterud G, Rotter JI.

Genet Med. 2004 Nov-Dec;6(6):481-6.

PMID:
15545743
18.

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.

Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N.

Mol Genet Metab. 2004 Nov;83(3):199-206.

PMID:
15542390
19.

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.

Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N.

Mol Genet Metab. 2004 May;82(1):27-32.

PMID:
15110318
20.

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N.

Am J Hum Genet. 2004 Jun;74(6):1303-8. Epub 2004 Apr 22.

21.

Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.

Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N.

Am J Med Genet A. 2004 May 15;127A(1):44-9.

PMID:
15103716
22.

Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease.

Sylvester JE, Fischel-Ghodsian N, Mougey EB, O'Brien TW.

Genet Med. 2004 Mar-Apr;6(2):73-80. Review.

PMID:
15017329
23.

Genetic influences on the increase in blood pressure with age in normotensive subjects in Barbados.

Robinson MT, Fischel-Ghodsian N, Fraser HS, Nicholson GD, Grim CM, Wilson DM, Wilson TW, Grim CE.

Ethn Dis. 2004 Winter;14(1):57-63.

PMID:
15002924
24.

Mitochondrial myopathy and sideroblastic anemia.

Casas KA, Fischel-Ghodsian N.

Am J Med Genet A. 2004 Mar 1;125A(2):201-4.

PMID:
14981724
25.

Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.

Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman RA, Guan MX.

Nucleic Acids Res. 2004 Feb 11;32(3):867-77. Print 2004.

26.

Age-related hearing loss and the ahl locus in mice.

Keithley EM, Canto C, Zheng QY, Fischel-Ghodsian N, Johnson KR.

Hear Res. 2004 Feb;188(1-2):21-8.

27.

Mitochondrial diseases.

Fischel-Ghodsian N.

N Engl J Med. 2003 Sep 25;349(13):1293-4; author reply 1293-4. No abstract available.

PMID:
14507958
28.

Mitochondrial deafness.

Fischel-Ghodsian N.

Ear Hear. 2003 Aug;24(4):303-13. Review.

PMID:
12923421
29.

A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews.

Sugimura K, Taylor KD, Lin YC, Hang T, Wang D, Tang YM, Fischel-Ghodsian N, Targan SR, Rotter JI, Yang H.

Am J Hum Genet. 2003 Mar;72(3):509-18. Epub 2003 Feb 7.

30.

Mitochondrial cytochrome oxidase immunolabeling in aged human temporal bones.

Keithley EM, Harris B, Desai K, Linthicum F, Fischel-Ghodsian N.

Hear Res. 2001 Jul;157(1-2):93-9.

PMID:
11470189
31.

Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness.

Bykhovskaya Y, Yang H, Taylor K, Hang T, Tun RY, Estivill X, Casano RA, Majamaa K, Shohat M, Fischel-Ghodsian N.

Genet Med. 2001 May-Jun;3(3):177-80.

PMID:
11388757
32.

Mitochondrial DNA mutations and diabetes: another step toward individualized medicine.

Fischel-Ghodsian N.

Ann Intern Med. 2001 May 1;134(9 Pt 1):777-9. No abstract available.

PMID:
11329235
33.

Additional evidence of linkage between Crohn's disease and a putative locus on chromosome 12.

Yang H, Ohmen JD, Ma Y, Bentley LG, Targan SR, Fischel-Ghodsian N, Rotter JI.

Genet Med. 1999 Jul-Aug;1(5):194-8. Erratum in: Genet Med 1999 Sep-Oct;1(6):247.

PMID:
11256672
34.

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.

Guan MX, Fischel-Ghodsian N, Attardi G.

Hum Mol Genet. 2001 Mar 15;10(6):573-80.

PMID:
11230176
35.

Association of IL-6 gene alleles with systemic lupus erythematosus (SLE) and with elevated IL-6 expression.

Linker-Israeli M, Wallace DJ, Prehn J, Michael D, Honda M, Taylor KD, Paul-Labrador M, Fischel-Ghodsian N, Fraser PA, Klinenberg JR.

Genes Immun. 1999 Sep;1(1):45-52.

36.

A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.

Johnson KR, Zheng QY, Bykhovskaya Y, Spirina O, Fischel-Ghodsian N.

Nat Genet. 2001 Feb;27(2):191-4.

37.

Heart-specific splice-variant of a human mitochondrial ribosomal protein (mRNA processing; tissue specific splicing).

Spirina O, Bykhovskaya Y, Kajava AV, O'Brien TW, Nierlich DP, Mougey EB, Sylvester JE, Graack HR, Wittmann-Liebold B, Fischel-Ghodsian N.

Gene. 2000 Dec 31;261(2):229-34.

PMID:
11167009
38.
39.

A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.

Guan MX, Fischel-Ghodsian N, Attardi G.

Hum Mol Genet. 2000 Jul 22;9(12):1787-93.

PMID:
10915767
40.

Genetic factors in aminoglycoside toxicity.

Fischel-Ghodsian N.

Ann N Y Acad Sci. 1999 Nov 28;884:99-109. Review.

PMID:
10842587
41.

Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis.

Mimouni A, Magal N, Stoffman N, Shohat T, Minasian A, Krasnov M, Halpern GJ, Rotter JI, Fischel-Ghodsian N, Danon YL, Shohat M.

Pediatrics. 2000 May;105(5):E70.

PMID:
10799634
42.

Candidate locus for a nuclear modifier gene for maternally inherited deafness.

Bykhovskaya Y, Estivill X, Taylor K, Hang T, Hamon M, Casano RA, Yang H, Rotter JI, Shohat M, Fischel-Ghodsian N.

Am J Hum Genet. 2000 Jun;66(6):1905-10. Epub 2000 Apr 27.

43.

The familial mediterranean fever protein interacts and colocalizes with a putative Golgi transporter.

Chen X, Bykhovskaya Y, Tidow N, Hamon M, Bercovitz Z, Spirina O, Fischel-Ghodsian N.

Proc Soc Exp Biol Med. 2000 May;224(1):32-40.

PMID:
10782044
44.

Mammalian mitochondrial ribosomal proteins (4). Amino acid sequencing, characterization, and identification of corresponding gene sequences.

O'Brien TW, Liu J, Sylvester JE, Mougey EB, Fischel-Ghodsian N, Thiede B, Wittmann-Liebold B, Graack HR.

J Biol Chem. 2000 Jun 16;275(24):18153-9.

45.

Temporal bone histopathology in connexin 26-related hearing loss.

Jun AI, McGuirt WT, Hinojosa R, Green GE, Fischel-Ghodsian N, Smith RJ.

Laryngoscope. 2000 Feb;110(2 Pt 1):269-75.

PMID:
10680928
46.

Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin.

Tidow N, Chen X, Müller C, Kawano S, Gombart AF, Fischel-Ghodsian N, Koeffler HP.

Blood. 2000 Feb 15;95(4):1451-5.

PMID:
10666224
47.

A genome-wide search identifies potential new susceptibility loci for Crohn's disease.

Ma Y, Ohmen JD, Li Z, Bentley LG, McElree C, Pressman S, Targan SR, Fischel-Ghodsian N, Rotter JI, Yang H.

Inflamm Bowel Dis. 1999 Nov;5(4):271-8.

PMID:
10579120
48.

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R.

Neurology. 1999 Jun 10;52(9):1905-8.

PMID:
10371545
49.

Maternally inherited nonsyndromic hearing loss.

Friedman RA, Bykhovskaya Y, Sue CM, DiMauro S, Bradley R, Fallis-Cunningham R, Paradies N, Pensak ML, Smith RJ, Groden J, Li XC, Fischel-Ghodsian N.

Am J Med Genet. 1999 Jun 4;84(4):369-72.

PMID:
10340654
50.

Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications.

Casano RA, Johnson DF, Bykhovskaya Y, Torricelli F, Bigozzi M, Fischel-Ghodsian N.

Am J Otolaryngol. 1999 May-Jun;20(3):151-6.

PMID:
10326749

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