Spritz RA - Search Results

1

High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.

Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. Ito S, et al. Among authors: spritz ra. J Invest Dermatol. 2005 Oct;125(4):715-20. doi: 10.1111/j.0022-202X.2005.23884.x. J Invest Dermatol. 2005. PMID: 16185271 Free article.

2

The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles.

Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA. Chiang PW, et al. Among authors: spritz ra. J Biol Chem. 2003 May 30;278(22):20332-7. doi: 10.1074/jbc.M300090200. Epub 2003 Mar 27. J Biol Chem. 2003. PMID: 12663659 Free article.

3

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL. Santiago Borrero PJ, et al. Among authors: spritz ra. J Invest Dermatol. 2006 Jan;126(1):85-90. doi: 10.1038/sj.jid.5700034. J Invest Dermatol. 2006. PMID: 16417222 Free PMC article.

4

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA. Suzuki T, et al. Among authors: spritz ra. Nat Genet. 2002 Mar;30(3):321-4. doi: 10.1038/ng835. Epub 2002 Feb 11. Nat Genet. 2002. PMID: 11836498

5

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.

Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Bailin T, et al. Among authors: spritz ra. J Invest Dermatol. 1997 Jun;108(6):923-7. doi: 10.1111/1523-1747.ep12294634. J Invest Dermatol. 1997. PMID: 9182823 Free article.

6

The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.

Suzuki T, Li W, Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA. Suzuki T, et al. Among authors: spritz ra. Genomics. 2001 Nov;78(1-2):30-7. doi: 10.1006/geno.2001.6644. Genomics. 2001. PMID: 11707070

7

The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.

Suzuki T, Oiso N, Gautam R, Novak EK, Panthier JJ, Suprabha PG, Vida T, Swank RT, Spritz RA. Suzuki T, et al. Among authors: spritz ra. Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1146-50. doi: 10.1073/pnas.0237292100. Epub 2003 Jan 21. Proc Natl Acad Sci U S A. 2003. PMID: 12538872 Free PMC article.

8

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Hutton SM, Spritz RA. Hutton SM, et al. Among authors: spritz ra. J Invest Dermatol. 2008 Oct;128(10):2442-50. doi: 10.1038/jid.2008.109. Epub 2008 May 8. J Invest Dermatol. 2008. PMID: 18463683 Free PMC article.

9

Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.

Sviderskaya EV, Bennett DC, Ho L, Bailin T, Lee ST, Spritz RA. Sviderskaya EV, et al. Among authors: spritz ra. J Invest Dermatol. 1997 Jan;108(1):30-4. doi: 10.1111/1523-1747.ep12285621. J Invest Dermatol. 1997. PMID: 8980282 Free article.

10

Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.

Schnur RE, Sellinger BT, Holmes SA, Wick PA, Tatsumura YO, Spritz RA. Schnur RE, et al. Among authors: spritz ra. J Invest Dermatol. 1996 May;106(5):1137-40. doi: 10.1111/1523-1747.ep12340185. J Invest Dermatol. 1996. PMID: 8618053 Free article.

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