MURRAY BRILLIANT

Summary

Affiliation: University of Arizona
Country: USA

Publications

  1. ncbi The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH
    M H Brilliant
    Department of Pediatrics, University of Arizona College of Medicine, Tucson 85724, USA
    Pigment Cell Res 14:86-93. 2001
  2. pmc A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population
    Zanhua Yi
    Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ 85724, USA
    Am J Hum Genet 72:62-72. 2003
  3. ncbi Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice
    Nobuko Hagiwara
    University of Arizona, College of Medicine, Department of Pediatrics, 1501 North Campbell Avenue, Tucson, AZ 85724, USA
    Dev Biol 254:93-101. 2003
  4. pmc Sox6 regulation of cardiac myocyte development
    Orit Cohen-Barak
    Department of Pediatrics, The University of Arizona College of Medicine, Steele Memorial Children s Research Center 1501 N Campbell Avenue, Tucson, AZ 85724, USA
    Nucleic Acids Res 31:5941-8. 2003
  5. ncbi Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism
    Aydan Ikinciogullari
    Division of Paediatric Immunology Allergy, Ankara University School of Medicine, Ankara, Turkey
    Eur J Pediatr 164:177-9. 2005

Research Grants

  1. GENETIC AND MOLECULAR ANALYSES OF MUTATIONS
    MURRAY BRILLIANT; Fiscal Year: 2002
  2. The function of proteins associated with albinism
    MURRAY BRILLIANT; Fiscal Year: 2005

Collaborators

  • Richard A King
  • Zanhua Yi
  • Orit Cohen-Barak
  • Nobuko Hagiwara
  • Aydan Ikinciogullari
  • Nanibaa Garrison
  • Gonul Tanir
  • Ismail Reisli
  • Emel Babacan
  • Mustafa Tekin
  • Figen Dogu
  • Issei Komuro
  • Koshiro Monzen
  • Tatiana M Karafet
  • Linda D Siracusa
  • Robert P Erickson
  • Michael F Hammer
  • Zoya Katarova

Detail Information

Publications5

  1. ncbi The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH
    M H Brilliant
    Department of Pediatrics, University of Arizona College of Medicine, Tucson 85724, USA
    Pigment Cell Res 14:86-93. 2001
    ..In light of these observations, a model of p protein function is presented in which the p protein, together with the ATP-driven proton pump, regulates the pH of the melanosome...
  2. pmc A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population
    Zanhua Yi
    Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ 85724, USA
    Am J Hum Genet 72:62-72. 2003
    ..5%. The estimated prevalence of OCA2 in Navajos is between approximately 1 per 1,500 and 1 per 2,000. We further estimate that this mutation originated 400-1,000 years ago from a single founder...
  3. ncbi Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice
    Nobuko Hagiwara
    University of Arizona, College of Medicine, Department of Pediatrics, 1501 North Campbell Avenue, Tucson, AZ 85724, USA
    Dev Biol 254:93-101. 2003
    ..Based on these observations, we propose that GABA, synthesized by the palatal epithelium, acts as a signaling molecule during orientation and fusion of the palate shelves...
  4. pmc Sox6 regulation of cardiac myocyte development
    Orit Cohen-Barak
    Department of Pediatrics, The University of Arizona College of Medicine, Steele Memorial Children s Research Center 1501 N Campbell Avenue, Tucson, AZ 85724, USA
    Nucleic Acids Res 31:5941-8. 2003
    ..Thus, Sox6 is within the BMP pathway in cardiac differentiation, interacts with Prtb and may play a critical role in the regulation of a cardiac L-type Ca2+ channel...
  5. ncbi Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism
    Aydan Ikinciogullari
    Division of Paediatric Immunology Allergy, Ankara University School of Medicine, Ankara, Turkey
    Eur J Pediatr 164:177-9. 2005

Research Grants8

  1. GENETIC AND MOLECULAR ANALYSES OF MUTATIONS
    MURRAY BRILLIANT; Fiscal Year: 2002
    ..In addition, differential display, cDNA subtraction, and/or gene expression profiling will be used to compare mutant and non-mutant tissues in an attempt to identify Sox6 targets. ..
  2. The function of proteins associated with albinism
    MURRAY BRILLIANT; Fiscal Year: 2005
    ..The characterization of mouse models for these hypopigmentation disorders will provide a system to test the efficacy of genetic and biochemical intervention in the treatment of the homologous human disorders. ..