Affiliation: University of Arizona
- The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pHM 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...
- A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo populationZanhua 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...
- Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in miceNobuko 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...
- Sox6 regulation of cardiac myocyte developmentOrit 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...
- Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinismAydan Ikinciogullari
Division of Paediatric Immunology Allergy, Ankara University School of Medicine, Ankara, Turkey
Eur J Pediatr 164:177-9. 2005
- GENETIC AND MOLECULAR ANALYSES OF MUTATIONSMURRAY 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. ..
- The function of proteins associated with albinismMURRAY 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. ..