PubMed

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. Epub 2009 May 13.PMID: 19482502 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2008 Jul 22.PMID: 18648068 [PubMed - indexed for MEDLINE]Related articlesFree article

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

Ballana E, Mercader JM, Fischel-Ghodsian N, Estivill X.

BMC Med Genet. 2007 Dec 21;8:81.PMID: 18154640 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 17374500 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 16826519 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed]Related articles

Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan) real-time polymerase chain reaction assay and plasmid external calibration standards.

Pogozelski WK, Hamel CJ, Woeller CF, Jackson WE, Zullo SJ, Fischel-Ghodsian N, Blakely WF.

Mitochondrion. 2003 Jun;2(6):415-27.PMID: 16120337 [PubMed]Related articles

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.PMID: 16055286 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 15772074 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic factors in aminoglycoside toxicity.

Fischel-Ghodsian N.

Pharmacogenomics. 2005 Jan;6(1):27-36. Review.PMID: 15723603 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 15108122 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial myopathy and sideroblastic anemia.

Casas KA, Fischel-Ghodsian N.

Am J Med Genet A. 2004 Mar 1;125A(2):201-4.PMID: 14981724 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 14960712 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 14759567 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial deafness.

Fischel-Ghodsian N.

Ear Hear. 2003 Aug;24(4):303-13. Review.PMID: 12923421 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 12577202 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 11197305 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 11175788 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders.

Fischel-Ghodsian N.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):93-9. Review. No abstract available. PMID: 11001802 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic factors in aminoglycoside toxicity.

Fischel-Ghodsian N.

Ann N Y Acad Sci. 1999 Nov 28;884:99-109. Review.PMID: 10842587 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 10788333 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 10751423 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

An analysis of a large postlingually deaf family with hereditary non-syndromic profound hearing loss.

Angeli SI, Naranjo C, Friedman RA, Naranjo A, Henríquez O, Fischel-Ghodsian N, Chiossone E.

Acta Otolaryngol. 1999 Mar;119(2):158-62.PMID: 10320067 [PubMed - indexed for MEDLINE]Related articles