Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Research Project (R01)
Project #
2R01DC001402-05
Application #
2126474
Study Section
Hearing Research Study Section (HAR)
Project Start
1992-03-01
Project End
1999-05-31
Budget Start
1996-06-01
Budget End
1997-05-31
Support Year
5
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Cedars-Sinai Medical Center
Department
Type
DUNS #
075307785
City
Los Angeles
State
CA
Country
United States
Zip Code
90048
Ballana, Ester; Mercader, Josep Maria; Fischel-Ghodsian, Nathan et al. (2007) MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene. BMC Med Genet 8:81
Guan, Min-Xin; Yan, Qingfeng; Li, Xiaoming et al. (2006) 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
Yan, Qingfeng; Bykhovskaya, Yelena; Li, Ronghua et al. (2006) 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. Biochem Biophys Res Commun 342:1130-6
Patton, Jeffrey R; Bykhovskaya, Yelena; Mengesha, Emebet et al. (2005) 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 280:19823-8
Mathews, C E; Leiter, E H; Spirina, O et al. (2005) mt-Nd2 Allele of the ALR/Lt mouse confers resistance against both chemically induced and autoimmune diabetes. Diabetologia 48:261-7
Zeharia, Avraham; Fischel-Ghodsian, Nathan; Casas, Kari et al. (2005) 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 20:449-52
Bykhovskaya, Yelena; Casas, Kari; Mengesha, Emebet et al. (2004) Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 74:1303-8
Bykhovskaya, Yelena; Mengesha, Emebet; Wang, Dai et al. (2004) Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol Genet Metab 83:199-206
Li, Xiaoming; Fischel-Ghodsian, Nathan; Schwartz, Faina et al. (2004) Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. Nucleic Acids Res 32:867-77
Casas, Kari; Bykhovskaya, Yelena; Mengesha, Emebet et al. (2004) Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33. Am J Med Genet A 127A:44-9

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