Nathan Fischel-GhodsianSummaryAffiliation: Cedars-Sinai Medical Center Country: USA Publications
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Publications
Genetic influences on the increase in blood pressure with age in normotensive subjects in BarbadosMiguel T Robinson
Department of Psychiatry, UC San Diego, La Jolla, California, USA
Ethn Dis 14:57-63. 2004..In normotensive subjects of African descent living in Barbados, the increase in blood pressure with age is significantly influenced by both nuclear and mitochondrial genotypes that are more common in African derived populations...
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA geneEster Ballana
Genes and Disease Program, Centre for Genomic Regulation CRG, Barcelona, Catalonia, Spain
BMC Med Genet 8:81. 2007..However, although a major nuclear modifying locus was located on chromosome 8p23.1 and regardless intensive screening of the region, the gene involved has not been identified...- Genetic factors in aminoglycoside toxicityNathan Fischel-Ghodsian
Cedars Sinai Medical Center, Department of Pediatrics, Suite 1165WT, 8700 Beverly Blvd, Los Angeles, CA 90048, USA
Pharmacogenomics 6:27-36. 2005..It is the challenge of genomic medicine to translate this more than a decade-old knowledge into clinical practice... - Mitochondrial myopathy and sideroblastic anemiaKari A Casas
Cedars Sinai Medical Center, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics Birth Defects Center, Los Angeles, California 90048, USA
Am J Med Genet A 125:201-4. 2004..1995]. These families provide an opportunity to clarify the molecular basis of tissue specific expression of mitochondrial disorders... - Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)Yelena Bykhovskaya
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, and Medical Genetics Birth Defects Center, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
Am J Hum Genet 74:1303-8. 2004..Identification of the pathophysiologic pathways of the mutation in these families may shed light on the tissue specificity of oxidative phosphorylation disorders... - Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)Yelena Bykhovskaya
Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA
Mol Genet Metab 91:148-56. 2007..Similar combinations of mechanisms may play a role in the tissue specificity of other mitochondrial disorders... - Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3Yelena Bykhovskaya
Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center and David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA
Mol Genet Metab 83:199-206. 2004..This conclusion was supported by comparing linkage results of simulated genotypes with actual results for the four genes involved in mitochondrial RNA modification... - Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteinsYelena Bykhovskaya
Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center and David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA
Mol Genet Metab 97:297-304. 2009.... - Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33Kari Casas
Cedars-Sinai Medical Center, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics Birth Defects Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA
Am J Med Genet A 127:44-9. 2004..The eventual identification of the disease gene in MSA is expected to provide insight into the tissue specificity and phenotypic variability of mitochondrial disease... - Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafnessXiaoming Li
Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
Nucleic Acids Res 32:867-77. 2004..These observations imply that a combination of the T7511C mutation with two mtDNA mutations accounts for the high penetrance of deafness in this family... - Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signalingXiansi Zhao
Department of Otolaryngology and Biochemistry, Cancer Research Center, Boston University School of Medicine, 715 Albany Street R903, Boston, Massachusetts 02118, USA
Mol Endocrinol 21:686-99. 2007..Thus, Pus1p- and Pus3p-dependent pseudouridylation of SRA is a highly complex posttranscriptional mechanism that controls a coactivator-corepressor switch in SRA with major consequences for NR signaling... - Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutationsMin Xin Guan
Division and Program in Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
Am J Hum Genet 79:291-302. 2006..These findings indicate that the mutated TRMU, acting as a modifier factor, modulates the phenotypic manifestation of the deafness-associated 12S rRNA mutations... - Cu/Zn superoxide dismutase and age-related hearing lossElizabeth M Keithley
Division of Otolaryngology Head and Neck Surgery, University of California, San Diego, La Jolla, 92093 0666, USA
Hear Res 209:76-85. 2005..In conclusion, SOD1 seems important for survival of cochlear neurons and the stria vascularis, however even half the amount is sufficient and an over abundance does not provide much protection from age-related hearing loss... - Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 geneAvraham Zeharia
Department of Pediatircs, Schneider Children s Medical of Israel, Petah Tiqva
J Child Neurol 20:449-52. 2005..This finding provides additional evidence that mitochondrial ribonucleic acid modification impacts the phenotypic expression of oxidative phosphorylation disorders... - Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylationJeffrey R Patton
Department of Pathology and Microbiology, University of South Carolina School of Medicine, Columbia, USA
J Biol Chem 280:19823-8. 2005..MLASA is thus associated with absent or greatly reduced tRNA pseudouridylation at specific sites, implicating this pathway in its molecular pathogenesis... - Mitochondrial ribosomal proteins: candidate genes for mitochondrial diseaseJames E Sylvester
Nemours Children's Clinic, Jacksonville, Florida 32207, USA
Genet Med 6:73-80. 2004..These MRPs may be candidate genes for the clinical condition or may act as modifiers of existing known gene mutations (mt-tRNA, mt-rRNA, etc.)... - Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybridsXiaoming Li
Division and Program in Human Genetics, Center for Hearing and Deafness Research, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA
Biochem Biophys Res Commun 328:491-8. 2005..These results also imply the influence of nuclear background on the biochemical phenotype associated with the A7445G mutation... - Mitochondrial diseasesNathan Fischel-Ghodsian
N Engl J Med 349:1293-4; author reply 1293-4. 2003
Research Grants
- Mitochondrial Myopathy and Sideroblastic AnemiaNathan Fischel Ghodsian; Fiscal Year: 2007....
- MOLECULAR BASIS OF MATERNALLY TRANSMITTED DEAFNESSNathan Fischel Ghodsian; Fiscal Year: 2005....
- MITOCHONDRIAL TRANSLATION AND HEARING IMPAIRMENTNathan Fischel Ghodsian; Fiscal Year: 2001..abstract_text> ..
- MOLECULAR BASIS OF MATERNALLY TRANSMITTED DEAFNESSNathan Fischel Ghodsian; Fiscal Year: 1993..The insights gained raise the possibility of improved diagnostic, therapeutic, and preventive measures...