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Nathan Fischel‐Ghodsian: Influence Statistics

Nathan Fischel‐Ghodsian

Nathan Fischel‐Ghodsian

Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, David Geffen School of Medicine at ...

Nathan Fischel‐Ghodsian: Expert Impact

Concepts for which Nathan Fischel‐Ghodsian has direct influence: Hearing loss , Sideroblastic anemia , Familial mediterranean fever , Mitochondrial myopathy , Palmoplantar keratoderma , Ribosomal rna , Familial mediterranean .

Nathan Fischel‐Ghodsian: KOL impact

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

KOL Resume for Nathan Fischel‐Ghodsian

Year
2016

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

2009

Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center and David Geffen School of Medicine at UCLA, 8700 Beverly Blvd., Los Angeles, CA 90048, USA

2008

Cedars-Sinai Medical Center, Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90048, USA

2007

Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center and David Geffen School of Medicine at UCLA, 8700 Beverly Blvd, Suite SSB378, Los Angeles, CA 90048, USA

2006

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 90049, USA

2005

Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA

2004

Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA

2003

Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center and University of California at Los Angeles School of Medicine, Los Angeles, CA 90048, USA

2001

Dr. Fischel-Ghodsian: Cedars-Sinai Medical Center; Los Angeles, CA 90048

From the Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California; Deafness Genetics Research Group, Medical and Molecular Genetics Center, Institut de Recerca Oncologica, Hospital Duran I Reynals, Barcelona, Spain; Cytogenetic and Genetic Unit, Azienda Ospedaliera Careggi, Florence, Italy; Department of Neurology, University of Oulu, Oulu, Finland; and Department of Pediatrics and Medical Genetics, Rabin Medical Center and Basil and Gerald Felsenstein Medical Research Center, Tel Aviv University Medical School, Petah Tikva, Israel.

Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics Birth Defects Center, The Cedars-Sinai Medical Center Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, California, USA

2000

Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA

From the Molecular Otolaryngology Research Laboratories, Department of Otolaryngology—Head and Neck Surgery, University of Iowa (A.I.J., W.T.M, G.E.G., R.H.S.), Iowa City, Iowa, the Department of Otolaryngology—Head and Neck Surgery, University of Chicago (R.H.), Chicago, Illinois, and the Department of Pediatrics, Cedars-Sinai Medical Center (N.F.-G.), Los Angeles, California.

Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center, and University of California, Los Angeles, California; and

1999

Cytogenetic and Genetic Unity, Azienda Ospedaliera Careggi, USA

From the Departments of Neurology (Drs. Sue, Tanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d'Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d'Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.

Genetic Institute, Elias Sourasky Medical Center, Ichilov Hospital, Tel Aviv, Israel

Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars‐Sinai Medical Center, and UCLA School of Medicine, Los Angeles, California

Otolaryngology Clinic, Department of Audiology, University of Study, Florence, Italy

1998

Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics Birth Defects Center, Cedars Sinai Research Institute and UCLA School of Medicine, Los Angeles, California

Department of Pediatrics, Cedars‐Sinai Medical Center; 8700 Beverly Blvd., Los Angeles, CA 90048.

1997

Department of Human Genetics, Medical College of Virginia, Richmond 23298, USA.

Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center, and UCLA School of Medicine, Los Angeles

Genetic Services Center, Gallaudet University Research Institute, Washington, DC., USA

1996

Department of Pediatrics, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048-0750, USA

1995

Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetixcs–Birth Defects Center, Cedars Sinai Research Institute and UCLA School of Medicine, Los Angeles, California

Departments of Surgery and Pathology, Otago Medical School, University of Otago, Dunedin, New Zealand

Department of Pediatrics, Cedars‐Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048

1994

Medical Genetics Birth Defects Center, Ahmanson Pediatric Center, SHARE Child Disability Center, Steven Spielberg Pediatric Research Centre, Cedars‐Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, U.S.A.

1993

Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics Brith Defects Center, Cedars‐Sinai Medical Center and UCLA School of Medicine, Los Angeles, California

Department of Pediatrics and Steel Memorial Children's Research Center, University of Arizona College of Medicine, Tucson USA

1992

Department of Pediatrics, Felsenstein Research Institute, Beilinson Medical Centre, Sackler School of Medicine, Tel Aviv University, Israel.

UCLA School of Medicine, Los Angeles, California 90048

1991

Cedars-Sinai Medical Center Los Angeles, California 90048, USA

1990

Assistant Professor of Pediatrics, UCLA School of Medicine; and Director, Molecular Hematology, Division of Pediatrics and Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California

1988

MRC Molecular Haematology Unit, The Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, Department of Paediatrics, The National Hosptal, Rikshospitalet, Oslo, Denmark

1987

MRC Molecular Haematology Unit Nuffield Department of Clinical Medicine University of Oxford, John Radcliffe Hospital Headington, Oxford, OX3 9DU England

Prominent publications by Nathan Fischel‐Ghodsian

KOL-Index: 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 ...
Known for Ribosomal Rna | Mitochondrial 12s | A1555g Mutation | Deafness Phenotype
KOL-Index: 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 ...
Known for Susceptibility Locus | Inflammatory Bowel | Ulcerative Colitis | Chromosome 16
KOL-Index: 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 ...
Known for Mediterranean Fever | Subcellular Localization | Expression Mefv | Protein Pyrin
KOL-Index: 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 ...
Known for T7511c Mutation | Biochemical Characterization | Sensorineural Humans | Messenger Rna
KOL-Index: 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 ...
Known for Sideroblastic Anemia | Mitochondrial Myopathy | Missense Mutation | Transfer Rna
KOL-Index: 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 ...
Known for Familial Mediterranean | Gene Fmf | Nonashkenazi Jews | Chromosome 16
KOL-Index: 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 ...
Known for Missense Mutation | Pseudouridine Synthase | Sideroblastic Anemia | Amino Acid
KOL-Index: 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 ...
Known for Alr Nod | 1 Diabetes | Nadh Dehydrogenase | Mitochondrial Genomes
KOL-Index: 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 ...
Known for Familial Mediterranean Fever | Development Amyloidosis | Inflammatory Attacks | Common Mutation
KOL-Index: 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 ...
Known for Crohn Disease | Ashkenazi Jews | Nod2 Card15 | Linkage Analysis
KOL-Index: 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 ...
Known for Familial Mediterranean | Gene Mutations | Fever Fmf | Autosomal Recessive Disease
KOL-Index: 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 ...
Known for Syndromic Deafness | Biochemical Evidence | 12s Rrna | Mitochondrial Rna
KOL-Index: 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 ...
Known for Dna Mutation | Messenger Rna | Gene Expression | Nadh Dehydrogenase
KOL-Index: 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 ...
Known for Aminoglycoside Ototoxicity | 12s Rrna Gene | Mitochondrial Rna | Mutation Families
KOL-Index: 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 ...
Known for Steroid Receptor | Rna Activator | Sideroblastic Anemia | Pseudouridine Synthase

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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