Dr. Nathan Fischel


Peer-Reviewed Publications


  1. Lavie P, Fischel N, Zomer J, and Eliaschar I: The effects of partial and complete mechanical occlusion of the nasal passages on sleep structure and breathing in sleep. Acta Otolaryngol 95, 161-166, 1983.

  2. Nicholls RD, Fischel-Ghodsian N, and Higgs DR: Recombination at the human alpha-globin gene cluster: Sequence features and topological constraints. Cell 49, 369-378, 1987.

  3. Fischel-Ghodsian N, Nicholls RD, and Higgs DR: Long range genome structure around the human alpha-globin complex analysed by PFGE. Nucleic Acids Res 15, 6197-6207, 1987.

  4. Fischel-Ghodsian N, Higgs DR, and Beyer EC: Function of a new globin gene. Nature 329, 397, 1987.

  5. Fischel-Ghodsian N, Nicholls RD, and Higgs DR: Unusual features of CpG-rich (HTF) islands in the human alpha-globin complex: Association with non-functional pseudogenes and presence within the 3' portion of the zeta gene. Nucleic Acids Res 15, 9215-9225, 1987.

  6. Fischel-Ghodsian N, Vickers MA, Seip M, Winichagoon P, and Higgs DR: Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (--THAI and -- FIL). British Journal of Haematology 70, 233-238, 1988.

  7. Berde CB, Fischel N, Filardi JP, Coe CS, Grier HE, and Bernstein SC: Caudal epidural morphine analgesia for an infant with advanced neuroblastoma: report of a case. Pain 36, 219-233, 1989.

  8. Wilkie AOM, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DHK, Gardner-Medwin D,MacGillivray MH, Weatherall DJ, and Higgs DR: Clinical features and molecular analysis of the alpha thalassemia / mental retardation syndromes. II. Cases without detectable abnormality of the alpha-globin complex. Am J Hum Genet 46, 1127-1140, 1990.

  9. Fischel-Ghodsian N, Hirsch PC, and Bohlman MC: Rapid detection of the hemoglobin C mutation by allele-specific PCR. Am J Hum Genet 47, 1023-1024, 1990.

  10. Wilkie AOM, Higgs DR, Rack KA, Buckle VJ, Spurr NK, Fischel-Ghodsian N, Ceccherini I, Brown WRA, Harris PC: Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell 64, 595-606, 1991.

  11. Jaber L, Shohat M, Bu X, Fischel-Ghodsian N, Yang H, Wang S, Rotter JI: Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J Med Genet 29, 86-90, 1992.

  12. Fischel-Ghodsian N, Bohlman MC, Prezant TR, Graham JM, Cederbaum SD, and Edwards MJ: Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. Ped Res 31, 557-560, 1992 .

  13. Prezant TR, Shohat M, Jaber L, Pressman S, and Fischel-Ghodsian N: Biochemical characterization of a pedigree with mitochondrially-inherited deafness. Am J Med Genet 44, 465 472, 1992.

  14. Prezant TR, and Fischel-Ghodsian N: Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations. Human Mut 1, 159-164, 1992.

  15. Shohat M, Bu X, Shohat T, Fischel-Ghodsian N, Magal N, Nakamura Y, Schwabe AD, Schlezinger M, Danon Y, and Rotter JI: The gene for Familial Mediterranean Fever in both Armenians and non-Ashkenazi Jews is linked to the a-globin complex on 16p. Evidence for genetic homogeneity. Am J Hum Genet 51, 1349-1354, 1992.

  16. Fischel-Ghodsian N, Bu X, Prezant TR, Öztas S, Huang Z, Bohlman MC, Rotter JI, and Shohat M: Regional mapping of the gene for Familial Mediterranean Fever on human chromosome 16p13. Am J Med Genet 46, 689-693, 1993.

  17. Prezant TR, Agapian JV, Bohlman MC, Bu X, Öztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, and Fischel-Ghodsian N: Mitochondrial ribosomal RNA mutation associated with antibiotic-induced and non-syndromic deafness. Nature Genetics 4, 289-294, 1993.

  18. Bernes SM, Bacino C, Prezant TR, Wood TS, Pearson MA, Fournier P, and Fischel-Ghodsian N: Identical mitochondrial DNA deletion in mother with Kearns-Sayre syndrome and son with Pearson marrow-pancreas syndrome. J Pediatr 123, 598-602, 1993.

  19. Fischel-Ghodsian N, Prezant TR, Bu X, and Öztas S: Mitochondrial ribosomal RNA gene mutation associated with aminoglycoside ototoxicity. Am J Otolaryngol 14, 399-403, 1993.

  20. Hutchin T, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, Saha N, Arnos C, and Cortopassi G: A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 21, 4174-4179, 1993.

  21. Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu W, Öztas S, Pepkowitz S, and Graham JM: Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16. Prenatal Diag 14, 257-266, 1994.

  22. Prezant TR, Agapian JV, and Fischel-Ghodsian N: Corrections to the human mitochondrial ribosomal RNA sequences. Human Genetics 93, 87-88, 1994.

  23. Jaber L, Weitz R, Bu X, Fischel-Ghodsian N, Rotter JI, and Shohat M: Arthrogryposis multiplex congenita in an Arab kindred: Update. Am J Med Genet 55, 331-334, 1995.

  24. Sepehrnia B, Prezant TR, Rotter JI, Pettitt DJ, Knowler WC, and Fischel-Ghodsian N: Screening for mtDNA diabetes mutations in Pima Indians with NIDDM. Am J Med Genet 56, 198-202, 1995.

  25. Bacino CM, Prezant TR, Bu X, Fournier P, and Fischel-Ghodsian N: Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 5, 165-172, 1995

  26. Bacino CM, Schreck R, Fischel-Ghodsian N, Pepkowitz S, Prezant TR, and Graham JM: Clinical and molecular studies in full trisomy 22. Am J Med Genet 56, 359-365, 1995.

  27. Fischel-Ghodsian N, Prezant TR, Fournier P, Stewart IA, and Maw M: Mitochondrial tRNA mutation associated with non-syndromic deafness. Am J Otolaryngol 16, 403-408, 1995.

  28. Bhatt S, Schreck R, Graham JM, Korenberg JR, Hurvitz CH, and Fischel-Ghodsian N:Transient leukemia with trisomy 21: Description of a case and review of the literature. Am J Med Genet 58, 310-314, 1995.

  29. Shohat M, Fischel-Ghodsian N, Rotter JI, Danon YL: The gene for Familial Mediterranean Fever is mapped to 16p13.3-p13.1 with evidence for homogeneity. Advan Exp Med & Biol 371B, 901-903, 1995.

  30. Levy EN, Shen Y, Kupelian A, Aksentijevitch I, Pras E, Balow JE, Linzer B, Kruglyak L, Pras M, Shohat M, Rotter JI, Fischel-Ghodsian N, Richards RI, and Kastner DL: Linkage disequilibrium mapping places the gene causing Familial Mediterranean Fever close to D16S246. Am J Hum Genet 58, 523-534, 1996.

  31. Kupelian A, Falk RE, Klein J, Fournier P, and Fischel-Ghodsian N: Controversies in counselling for mitochondrial conditions. J Genet Couns 5, 17-26, 1996.

  32. Braverman I, Jaber L, Levi H, Adelman C, Arnos KS, Fischel-Ghodsian N, Shohat M, and Elidan J: Audio-vestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides. Arch Otolaryngol Head Neck Surg 122, 1001-1004, 1996.

  33. Mache CJ, Goriup U, Fischel-Ghodsian N, Chen X, and Schwingshandl J: Autosomal dominant Familial Mediterranean Fever - like syndrome. Eur J Pediatr 155, 787-790, 1996.

  34. Guan M, Fischel-Ghodsian N, and Attardi G: Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Molec Genet 5, 963-972, 1996.

  35. de Kok YJM, Vossenaar ER, Cremers CWRJ, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, and Cremers FPM: Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet 5, 1229-1236, 1996.

  36. Prezant TR, Chaltraw W, and Fischel-Ghodsian N: Identification of an overexpressed yeast gene which prevents aminoglycoside toxicity. Microbiol 142, 3407-3414, 1996.

  37. Ohmen JD, Yang H, Yamamoto KK, Zhao H, Ma Y, Huang Z, Bentley LG, Gerwehr S, Pressman S, MacElree C, Targan S, Rotter JI, and Fischel-Ghodsian N: Susceptibility locus for Inflammatory Bowel Disease on chromosome 16 has a role in Crohn's disease, but not in Ulcerative Colitis. Hum Molec Genet 5, 1679-1684, 1996.

  38. Fischel-Ghodsian N, Prezant TR, Chaltraw W, Wendt KA, Nelson RA, Arnos KS, and Falk RE: Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicit. Am J Otolaryngol 18, 173-178, 1997.

  39. Friedman RA, Bykhovskaya Y, Tu G, Talbot JM, Wilson DF, Parnes LS, and Fischel-Ghodsian N: Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. Annals Otology Rhinol Laryngol 106, 320-325, 1997.

  40. Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Odgerel D, Fischel-Ghodsian N, and Nance WE: Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet 34, 169-172, 1997.

  41. Hyslop SJ, James AM, Maw M, Fischel-Ghodsian N, and Murphy MP: The effect on mitochondrial function of the tRNASer(UCN)/COI A7445G mtDNA point mutation associated with maternally-inherited sensorineural deafness. Biochem Molec Biol Intl 42, 567-575, 1997.

  42. Sood R, Blake T, Aksentijevich I, Wood G, Chen X, Gardner D, Shelton DA, Mangelsdorf M, Osborn A, Pras E, Balow JE, Centola M, Deng Z, Zaks N, Chen X, Richards N, Fischel-Ghodsian N, Rotter JI, Pras M, Shohat M, Deaven LL, Gumuccio D, Callen DF, Richards RI, Collins FS, Liu P, Kastner DL, and Doggett NA: Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the Familial Mediterranean Fever locus (MEFV) on chromosome 16p13.3. Genomics 42, 83-95, 1997.

  43. Fischel-Ghodsian N, Bykhovskaya Y, Taylor K, Kahen T, Cantor R, Ehrenman K, Smith R, and Keithley E: Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations. Hearing Res 110, 147-154, 1997.

  44. Balow JE Jr., Shelton DA, Orsborn A, Mangelsdorf M, Aksentijevich I, Blake T, Sood R, Gardner D, Liu R, Pras E, Levy EN, Centola M, Deng Z, Zaks N, Wood G, Chen X, Richards N, Shohat M, Livneh A, Pras M, Doggett NA, Collins FS, Liu PP, Rotter JI, Fischel-Ghodsian N, Gumucio D, Richards RI, and Kastner DL: A high-resolution genetic map of the Familial Mediterranean Fever candidate region allows identification of haplotype-sharing among ethnic groups. Genomics 44, 280-291, 1997.

  45. The International FMF Consortium. Group 3: Chen X, Shohat M, Hamon M, Kahan M, Cercek A, Rotter JI, and Fischel-Ghodsian N: Ancient missense mutations in a new member of the RoRet gene family cause Familial Mediterranean Fever. Cell 90,797-807, 1997.

  46. Shohat M, Lotan R, Magal N, Shohat T, Fischel-Ghodsian N, Rotter JI, and Jaber L: A gene for arthrogryposis multiplex congenita - neuropathic type is linked to D5S394 on chromosome 5qter. Am J Hum Genet 61, 1139-1143, 1997.

  47. Chen X, Fischel-Ghodsian N, Cercek A, Hamon M, Ogur G, Lotan R, Danon Y, and Shohat M: Assessment of pyrin gene mutations in Turks with Familial Mediterranean Fever. Human Mutation 11, 456-460, 1998.

  48. Sevior KB, Hatamochi A, Stewart IA, Bykhovskaya Y, Allen-Powell DR, Fischel-Ghodsian N, and Maw M: Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 75, 179-185, 1998.

  49. Johnson DF, Prezant TR, Lubavin B, Chaltraw WE and Fischel-Ghodsian N: Isolation of overexpressed yeast genes which prevent aminoglycoside ototoxicity. Hearing Res 120, 62-68, 1998.

  50. Bykhovskaya Y, Shohat M, Ehrenman K, Johnson DF, Hamon M, Cantor R, Aouizerat B, Bu X, Rotter JI, Jaber L, and Fischel-Ghodsian N: Evidence for complex nuclear inheritance in a pedigree with non-syndromic deafness due to a homoplasmic mitochondrial mutation. Am J Med Genet 77, 421-426, 1998.

  51. Deng Z, Centola M, Chen X, Sood R, Vedula A, Fischel-Ghodsian N, and Kastner DL: Identification of two Kruppel-related Zinc finger genes. Genomics 53, 97-103, 1998.

  52. Casano RAMS, Bykhovskaya Y, Johnson DF, Torricelli F, Bigozzi M, and Fischel-Ghodsian N: Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am J Med Genet 79, 388-391, 1998.

  53. Fischel-Ghodsian N: Mitochondrial RNA processing and translation - Link between mitochondrial mutations and hearing loss? Mol Genet Metab 65, 97-104, 1998.

  54. Hsu W-T, Shchepin D, Mao R, Berry-Kravis E, Garber A, Fischel-Ghodsian N, Falk RE, Carlson D, Roeder E, Leeth E, Hajianpour MJ, Wang J-C, Rosenblum-Vos L, Bhatt S, Karson E, Hux C, Trunca C, Bialer MG, Linn S, and Schreck RR: A new clinical entity - mosaic trisomy 16 ascertained through amniocentesis. Am J Med Genet 80, 473-480, 1998.

  55. Johnson DF, Hamon M, and Fischel-Ghodsian N: Characterization of the human mitochondrial ribosomal S12 gene. Genomics 52, 363-368, 1998.

  56. Guan M, Enriquez JA, Fischel-Ghodsian N, Puranam RS, Lin C, Maw M, and Attardi G: Deafness-associated mtDNA 7445 mutation has pleiotropic effects, affecting tRNASer(UCN) precursor processing and expression of NADH dehydrogenase ND6 subunit gene. Molec Cell Biol 18, 5868-5879, 1998.

  57. Shohat M, Lotan R, Magal N, Danon Y, Ogur G, Tokguz G, Schlezinger M, Schwabe A, Halpern G, Fischel-Ghodsian N, Kastner D, Shohat T, Rotter JI: Amyloidosis in Familial Mediterranean Fever is associated with a specific ancestral haplotype in the MEFV locus. Mol Genet Metab 65, 197-202, 1998.

  58. Centola M, Chen X, Sood R, Deng Z, Aksentijevich I, Blake T, Ricke DO, Chen X, Wood G, Zaks N, Richards N, Krizman D, Mansfield E, Apostolou S, Liu J, Shafran N, Vedula A, Hamon M, Cercek A, Kahan T, Gumucio D, Callen DF, Richards RI, Moyzis RK, Doggett NA, Collins FS, Liu PP, Fischel-Ghodsian N, and Kastner DL: Construction of an ~700 kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3. Genome Res 8, 1172-1191, 1998.

  59. Verhoeven K, Ensink RJH, Tiranti V, Huygen P, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CWRJ, Willems PJ, and Van Camp G: Different penetrance of neurological symptoms associated with a mutation in the mitochondrial tRNA Ser(UCN) gene. Eur J Hum Genet 7, 45-51, 1999.

  60. Casano RAMS, Johnson DF, Hamon M, Bykhovskaya Y, Torricelli F, Bigozzi M, and Fischel-Ghodsian N: Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications. Am J Otolaryngol 20, 151-156, 1999.

  61. Shohat M, Magal N, Chen X, Danon Y, Lotan R, Ogur G, Tokguz G, Schlezinger M, Halpern GJ, Schwabe A, Shohat T, Kastner D, Rotter JI, and Fischel-Ghodsian N: Phenotype genotype correlation in Familial Mediterranean Fever - Evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 7, 287-292, 1999.

  62. Yang H, Plevy SE, Taylor K, Tyan D, Fischel-Ghodsian N, McElree C, Targan SR, and Rotter JI: Linkage of Crohn’s disease to the MHC region is detected by multiple non-parametric analyses. Gut 44, 519-526, 1999.

  63. Chen X, Hamon M, Deng Z, Centola M, Sood R, Taylor K, Kastner DL and Fischel-Ghodsian N: Identification and characterization of an Egr-1 related zinc finger gene (ZNF213) from 16p13.3. Biochem Biophys Acta 1444, 218-230, 1999.

  64. Shohat M, Fischel-Ghodsian N, Legum C and Halpern GJ: Aminoglycoside induced deafness in an Israeli Jewish family with a mitochondrial ribosomal RNA gene mutation. Am J Otolaryngol 20, 64-67, 1999.

  65. Friedman RA, Bykhovskaya Y, Bradley R, Fallis-Cunningham R, Paradies N, Smith RJ, Grodin J, Pensak ML, and Fischel-Ghodsian N: Maternal inherited deafness due to a novel genetic defect. Am J Med Genet 84, 369-372, 1999.

  66. 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, and Friedman R: Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene. Neurology 52, 1905-1908, 1999.

  67. Linker-Israeli M, Wallace DJ, Prehn J, Michael D, Honda M, Taylor KD, Paul-Labrador M, Fischel-Ghodsian N, and Klinenberg JR: Association of IL-6 gene alleles with systemic lupus erythematosus (SLE) and with elevated IL-6 expression. Genes and Immunity 1, 45-52, 1999.

  68. Yang H, Ohmen JD, Ma Y, Targan SR, Fischel-Ghodsian N, and Rotter JI: Additional evidence of linkage between Crohn’s disease and a putative locus on chromosome 12. Genetics in Medicine 1, 194-199, 1999.

  69. Angeli SI, Naranjo C, Friedman RA, Naranjo A, Henriquez O, Fischel-Ghodsian N, and Chiossone E: An analysis of a large postlingually deaf family with hereditary non-syndromic profound hearing loss. Acta Oto-Laryngologica 119,158-162, 1999.

  70. Ma Y, Ohmen JD, McElree C, Pressman S, Targan SR, Fischel-Ghodsian N, Rotter JI, and Yang H: A genome-wide search identifies potential new susceptibility loci for Crohn’s disease. Inflammatory Bowel Diseases 5, 271-278, 1999.

  71. Jun AI, McGuirt WT, Hinojosa R, Green GE, Fischel-Ghodsian N, and Smith RJH: Temporal bone histopathology in connexin 26-related hearing loss. Laryngoscope 110, 269-275, 2000.

  72. Tidow N, Chen X, Muller C, Kawano S, Gombart AF, Fischel-Ghodsian N, and Koeffler HP: Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Blood 95, 1451-1455, 2000.

  73. Chen X, Bykhovskaya Y, Tidow N, Hamon M, Bercovitz Z, Spirina O, and Fischel-Ghodsian N: The Familial Mediterranean Fever protein interacts and colocalizes with a putative Golgi transporter. Proc Soc Exp Biol Med 224, 32-40, 2000.

  74. Mimouni A, Magal N, Stoffman N, Shohat T, Minasian A, Krasnow M, Halpern GJ, Rotter JI, Fischel-Ghodsian N, Danon YL, and Shohat M: Familial Mediterranean Fever: Effects of genotype and ethnicity on inflammatory attacks and amyloidosis. Pediatrics 105, E70, 2000.

  75. Bykhovskaya Y, Estivill X, Taylor K, Hang T, Hamon M, Casano RAMS, Yang H, Rotter JI, Shohat M, and Fischel-Ghodsian N: Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am J Hum Genet 66, 1905-1910, 2000.

  76. O'Brien TW, Liu J, Sylvester JE, Mougey EB, Fischel-Ghodsian N, Thiede B, Wittmann-Liebold B, and Graack H-R: Mammalian mitochondrial ribosomal proteins (4): Amino acid sequencing, characterization, and identification of corresponding gene sequences. J Biol Chem 275,18153-18159, 2000.

  77. Guan M-X, Fischel-Ghodsian N, and Attardi G: A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Molec Genet 9, 1787-1793, 2000.

  78. Fischel-Ghodsian, N: Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders. Molec Genet Metab 71, 93-99, 2000.

  79. Johnson KR, Zheng QY, Bykhovskaya Y, Spirina O, and Fischel-Ghodsian N: A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. Nature Genet 27, 191-194, 2001.

  80. Spirina O, Bykhovskaya Y, Kajava AV, O’Brien TW, Nierlich DP, Mougey EB, Sylvester JE, Graack HR, Wittmann-Liebold B, and Fischel-Ghodsian N: Heart-specific splice-variant of human mitochondrial ribosomal protein. Gene 261, 229-234, 2001.

  81. Guan M-X, Fischel-Ghodsian N, and Attardi G: Transmitochondrial cell lines carrying the deafness-associated mitochondrial 12S rRNA mutation reveal a determinant role of nuclear background in the biochemical phenotype. Hum Molec Genet 10, 573-580, 2001.

  82. Keithley EM, Harris B, Desai K, Linthicum F, and Fischel-Ghodsian N: Mitochondrial cytochrome oxidase immunolabeling in aged human temporal bones. Hearing Research 157, 93-99, 2001.

  83. Bykhovskaya Y, Yang H, Taylor K, Hang T, Tun RYM, Estivill X, Casano RAMS, Majamaa K, Shohat M, and Fischel-Ghodsian N: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genetics in Medicine 3, 177-180, 2001.

  84. Pogozelski WK, Hamel CJC, Woeller CF, Jackson W, Zullo SJ, Fischel-Ghodsian N, Blakely WF: Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson’s syndrome lymphoblasts using the fluorogenic 5’-nuclease real-time PCR assay and plasmid external calibration standard. Mitochondrion 81, 1-13, 2003.

  85. Sugimura K, Taylor KD, Lin Y, Hang T, Wang D, Tang Y, Fischel-Ghodsian N, Targan SR, Rotter JI, Yang H: A novel NOD2/CARD15 haplotype conferring risk for Crohn's disease in Ashkenazi Jews. Am J Hum Genet 72, 509-518, 2003.

  86. Li X, Fischel-Ghodsian N, Schwartz F, Friedman RA, Guan M-X: Mitochondrial haplotype modulates the phenotypic expression of the deafness-associated mitochondrial tRNAser(UCN) T7511C mutation. Nucl Acid Res 32, 867-877, 2004.

  87. Casas K, and Fischel-Ghodsian N: Mitochondrial myopathy and sideroblastic anemia. Amer J Med Genet 125, 201-204, 2004.

  88. Keithley EK, Canto C, Zheng QY, Fischel-Ghodsian N, Johnson KR: Age-related hearing loss and the Ahl locus in mice. Hearing Res 188, 21-28, 2004.

  89. Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N: Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33. Am J Med Genet 127, 44-49, 2004.

  90. Bykhovskaya Y, Mengesha E, Wang D, Yang H, Shohat M, Estivill X, Fischel-Ghodsian N: Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Molec Genet Metab 82, 27-32, 2004.

  91. Sylvester JE, Fischel-Ghodsian N, Mougey EB, O’Brien TW: Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease. Genet In Medicine 6, 73-80, 2004.

  92. Robinson MT, Fischel-Ghodsian N, Fraser HS, Nicholson GA, Grim CM, Wilson DM, Wilson TW, Grim CE. Genetic influences on the increase in blood pressure with age in normotensive subjects in Barbados. Ethnicity and Disease 14, 57-63, 2004.

  93. Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N: Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia. Am J Hum Genet 74, 1303-1308, 2004.

  94. Taylor KD, Scheuner MT, Yang H, Wang Y, Haritunians T, Fischel-Ghodsian N, Shah PK, Forrester JS, Knatterud G, Rotter JI: The lipoprotein lipase locus and progression of atherosclerosis in coronary artery bypass grafts. Genetics in Medicine 6, 481-486, 2004.

  95. Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N: Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Molec Genet Metab 83, 199-206, 2004.

  96. Keithley EM, Wang X, Canto C, Zheng QY, Fischel-Ghodsian N, Johnson KR: Cu/Zn superoxide dismutase and age-related hearing loss. Hearing Res 209, 76-85, 2005.

  97. Zeharia A, Fischel-Ghodsian N, Casas K, Bykhovskaya Y, Tamari H, Lev D, Mimouni M, Lerman-Sagie T: Mitochondrial myopathy, sideroblastic anemia and lactic acidosis – an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol 20, 449-452, 2005.

  98. Mathews CE, Leiter EH, Spirina O, Bykhovskaya Y, Gusdon AM, Ringquist S, Fischel-Ghodsian N: mt-Nd2 Allele of the ALR/Lt mouse confers resistance against both chemically induced and autoimmune diabetes. Diabetologia 48, 261-267, 2005.

  99. Li X, Zhang LS, Fischel-Ghodsian N, Guan MX: Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids. Biochem Biophys Res Comm 328, 491-498, 2005.

  100. Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N: Mitochondrial myopathy and sideroblastic anemia (MLASA): Missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. J Biol Chem 280, 19823-19828, 2005.

  101. Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX: Human Trmu encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutation. Biochem Biophys Res Comm 342, 1130-1136, 2006.

  102. 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: Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet 79, 291-302, 2006.

  103. Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N: Pleiotropic Effects and Compensation Mechanisms Determine Tissue Specificity in Mitochondrial Myopathy and Sideroblastic Anemia (MLASA). Molec Genet Metab 91, 148-156, 2007.

  104. Zhao X, Patton JR, Ghosh SK, Fischel-Ghodsian N, Shen hen L, Spanjaard RA: Pus3p and Pus1p-Dependent Pseudouridylation of Steroid Receptor RNA Activator Controls a Functional Switch that Regulates Nuclear Receptor Signaling. Molec Endocrinology 21, 686-699, 2007.

  105. Ballana E, Mercader JM, Fischel-Ghodsian N, Estivill X: MRPS18CP2 alleles and DEFA3 absence on chromosome 8p23.1 modifiers of hearing loss due to the mtDNA mutation A1555G in the 12S rRNA gene. BMC Medical Genetics 8, 81, 2007. (http://www.biomedcentral.com/1471-2350/8/81)

  106. Sibert BS, Fischel-Ghodsian N, Patton JR: Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. RNA 14, 1895-1906, 2008.

  107. Bykhovskaya Y, Mengesha E, Fischel-Ghodsian, N: Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins. Molec Genet Metab 97, 297-304, 2009.

  108. 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: Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. Sci Rep, 6, 26202, 2016.

  109. ‚ÄčMeng F, Cang X, Peng Y, Li R, Zhang Z, Li F, Fan Q, Guan AS, Fischel-Ghodsian N, Zhao X, Guan M-X: Biochemical evidence for a nuclear modifier allele (A10S) in TRMU (methylaminomethyl-2- thiouridylate-methyltransferase) related to mitochondrial tRNA modification in the phenotypic manifestation of deafness-associated 12S rRNA mutation. J Biol Chem, published online January 3, 2017.





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