Prominent publications by Nathan Fischel‐Ghodsian

KOL Index score: 14826

The human mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation has been associated with aminoglycoside-induced and nonsyndromic deafness in many families worldwide. Our previous investigation revealed that the A1555G mutation is a primary factor underlying the development of deafness but is not sufficient to produce a deafness phenotype. However, it has been proposed that nuclear-modifier genes modulate the phenotypic manifestation of the A1555G mutation. Here, we identified the ...

Also Ranks for: Ribosomal Rna |  mitochondrial 12s |  a1555g mutation |  deafness phenotype |  phenotypic manifestation
KOL Index score: 12584

In the Western world, chronic inflammatory bowel disease (IBD) presents as two major clinical forms, Crohn's disease (CD) and ulcerative colitis (UC) [Targan, S.R. and Shanahan, F. (1994). In Retford, D.C (ed.), Inflammatory Bowel Disease: From Bench to Bedside. Williams and Wilkins, Baltimore]. Genetic epidemiological studies, the occurrence of rare syndromes associated with IBD, and animal models suggest that inherited factors play significant roles in the susceptibility to both forms ...

Also Ranks for: Susceptibility Locus |  inflammatory bowel |  ulcerative colitis |  chromosome 16 |  human pair
KOL Index score: 12538

Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by recurrent, self-limited attacks of fever and serositis and by infiltration of affected tissues by large numbers of neutrophils. A candidate gene for FMF was identified by positional cloning and named "MEFV." The corresponding protein was named "pyrin." To elucidate the currently unknown function of pyrin, we characterized its tissue distribution, regulation of expression during hematopoietic ...

Also Ranks for: Mediterranean Fever |  subcellular localization |  expression mefv |  protein pyrin |  cultured cloning
KOL Index score: 12390

We report here the biochemical characterization of the deafness-associated mitochondrial tRNA(Ser(UCN)) T7511C mutation, in conjunction with homoplasmic ND1 T3308C and tRNA(Ala) T5655C mutations using cybrids constructed by transferring mitochondria from lymphoblastoid cell lines derived from an African family into human mtDNA-less (rho degrees ) cells. Three cybrids derived from an affected matrilineal relative carrying the homoplasmic T7511C mutation, exhibited approximately 75% ...

Also Ranks for: T7511c Mutation |  biochemical characterization |  sensorineural humans |  messenger rna |  nonsyndromic deafness
KOL Index score: 12043

A missense mutation in the PUS1 gene affecting a highly conserved amino acid has been associated with mitochondrial myopathy and sideroblastic anemia (MLASA), a rare autosomal recessive oxidative phosphorylation disorder. The PUS1 gene encodes the enzyme pseudouridine synthase 1 (Pus1p) that is known to pseudouridylate tRNAs in other species. Total RNA was isolated from lymphoblastoid cell lines established from patients, parents, unaffected siblings, and unrelated controls, and the ...

Also Ranks for: Sideroblastic Anemia |  mitochondrial myopathy |  missense mutation |  transfer rna |  pus1 gene
KOL Index score: 11426

Familial Mediterranean fever (FMF) is a recurrent inflammatory disorder characterized by short episodes of fever, peritonitis, pleuritis, and arthritis. While FMF has been shown to be inherited in an autosomal recessive fashion in both non-Ashkenazi Jews and Armenian families, clinical differences have raised the possibility of genetic heterogeneity. As its pathogenesis is unknown, mapping of the gene for FMF may provide the first objective method for early and accurate diagnosis of this ...

Also Ranks for: Familial Mediterranean |  gene fmf |  nonashkenazi jews |  chromosome 16 |  lod score
KOL Index score: 11295

Mitochondrial myopathy and sideroblastic anemia (MLASA) is a rare, autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Linkage analysis and homozygosity testing of two families with MLASA localized the candidate region to 1.2 Mb on 12q24.33. Sequence analysis of each of the six known genes in this region, as well as four putative genes with expression in bone marrow or muscle, identified a homozygous missense mutation in the pseudouridine ...

Also Ranks for: Missense Mutation |  pseudouridine synthase |  sideroblastic anemia |  amino acid |  skeletal muscle
KOL Index score: 11027

Aims/hypothesisALR/Lt, a mouse strain with strong resistance to type 1 diabetes, is closely related to autoimmune type 1 diabetes-prone NOD/Lt mice. ALR pancreatic beta cells are resistant to the beta cell toxin alloxan, combinations of cytotoxic cytokines, and diabetogenic NOD T-cell lines. Reciprocal F1 hybrids between either ALR and NOD or ALR and NON/Lt, showed that alloxan resistance was transmitted to F1 progeny only when ALR was the maternal parent. Here we show that the ...

Also Ranks for: Alr Nod |  1 diabetes |  nadh dehydrogenase |  mitochondrial genomes |  mellitus type
KOL Index score: 10658

OBJECTIVE: The gene causing familial Mediterranean fever (FMF)-an autosomal recessive disease characterized by recurrent short episodes of fever associated most commonly with peritonitis, pleuritis, and arthritis-has recently been found and several mutations identified. The most severe complication of the disease is amyloidosis, which can lead to renal failure. The aim of this study was to investigate the role of genetic versus nongenetic factors on the phenotype as well as on the ...

Also Ranks for: Familial Mediterranean Fever |  development amyloidosis |  inflammatory attacks |  common mutation |  fmf patients
KOL Index score: 10558

Crohn disease (CD) exhibits a 2-4-fold increased frequency in Jews as compared with other ethnic/racial groups. Three coding variants of the NOD2/CARD15 have been reported as independent disease-predisposing mutations (DPMs), but these were found in only 30%-40% of patients with CD and could not account for all the linkage between CD and the IBD1 locus. The aim of the present study was to explore whether additional DPMs at the IBD1 locus exist in the high-risk Jewish group. Sixty-four ...

Also Ranks for: Crohn Disease |  ashkenazi jews |  nod2 card15 |  linkage analysis |  case control
KOL Index score: 10507

Familial Mediterranean fever (FMF) is an autosomal recessive disease clinically characterized by recurrent short self-limited attacks of fever accompanied by peritonitis, pleurisy, and arthritis and can lead to amyloidosis and renal failure in the longer term. It is prevalent mainly in non-Ashkenazi Jews, Armenians, Turks, and Arabs. Due to the lack of an accurate diagnostic test, patients often experience years of attacks and invasive diagnostic procedures before the correct diagnosis ...

Also Ranks for: Familial Mediterranean |  gene mutations |  fever fmf |  autosomal recessive disease |  nonashkenazi jews
KOL Index score: 10455

The phenotypic effects of the human mitochondrial 12S rRNA gene mutation at position 1555 associated with maternally inherited non-syndromic deafness and sensitivity to aminoglycoside-induced deafness have been analyzed in 25 lymphoblastoid cell lines derived from members of a large family carrying this mutation in homoplasmic form and from control individuals. A clear decrease in the rates of growth in galactose medium, mitochondrial protein synthesis, total oxygen consumption, and ...

Also Ranks for: Syndromic Deafness |  biochemical evidence |  12s rrna |  mitochondrial rna |  cell lines
KOL Index score: 10382

The pathogenetic mechanism of the deafness-associated mitochondrial DNA (mtDNA) T7445C mutation has been investigated in several lymphoblastoid cell lines from members of a New Zealand pedigree exhibiting the mutation in homoplasmic form and from control individuals. We show here that the mutation flanks the 3' end of the tRNASer(UCN) gene sequence and affects the rate but not the sites of processing of the tRNA precursor. This causes an average reduction of approximately 70% in the ...

Also Ranks for: Dna Mutation |  messenger rna |  gene expression |  nadh dehydrogenase |  tumor cells
KOL Index score: 10362

Irreversible hearing loss is a catastrophic complication of treatment with aminoglycoside antibiotics such as streptomycin, gentamycin, and kanamycin. Many kindreds showing a matrilineal pattern of inheritance of this trait have been described in China where the widespread use of aminoglycoside antibiotics accounts for approximately 25% of profound deafness in some districts. Because of the characteristic inheritance pattern, mitochondrial DNA (mtDNA) mutations were postulated to be the ...

Also Ranks for: Aminoglycoside Ototoxicity |  12s rrna gene |  mitochondrial rna |  mutation families |  matrilineal pattern
KOL Index score: 10299

It was previously shown that mouse Pus1p (mPus1p), a pseudouridine synthase (PUS) known to modify certain transfer RNAs (tRNAs), can also bind with nuclear receptors (NRs) and function as a coactivator through pseudouridylation and likely activation of an RNA coactivator called steroid receptor RNA activator (SRA). Use of cell extract devoid of human Pus1p activity derived from patients with mitochondrial myopathy and sideroblastic anemia, however, still showed SRA-modifying activity ...

Also Ranks for: Steroid Receptor |  rna activator |  sideroblastic anemia |  pseudouridine synthase |  pseudouridylation sra

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Nathan Fischel‐Ghodsian:Expert Impact

Concepts for whichNathan Fischel‐Ghodsianhas direct influence:Hearing loss,  Sideroblastic anemia,  Familial mediterranean fever,  Mitochondrial myopathy,  Palmoplantar keratoderma,  Ribosomal rna,  Familial mediterranean,  Mitochondrial dna.

Nathan Fischel‐Ghodsian:KOL impact

Concepts related to the work of other authors for whichfor which Nathan Fischel‐Ghodsian has influence:Hearing loss,  Mitochondrial dna,  Familial mediterranean fever,  Inflammatory bowel disease,  Ulcerative colitis,  A1555g mutation,  Human pair.



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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 | Medical Genetics Institute, Ahmanson Departm