My Bibliography

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Chikaraishi DM, Brilliant MH, Lewis EJ. Cloning and characterization of rat-brain-specific transcripts: rare, brain-specific transcripts and tyrosine hydroxylase. Cold Spring Harb Symp Quant Biol. 1983;48 Pt 1:309-18. doi: 10.1101/sqb.1983.048.01.034. PubMed PMID: 6144414.

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Brilliant MH, Sueoka N, Chikaraishi DM. Cloning of DNA corresponding to rare transcripts of rat brain: evidence of transcriptional and post-transcriptional control and of the existence of nonpolyadenylated transcripts. Mol Cell Biol. 1984 Oct;4(10):2187-97. doi: 10.1128/mcb.4.10.2187-2197.1984. PubMed PMID: 6209557; PubMed Central PMCID: PMC369038.

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Brilliant MH, Niemann MM, Eicher EM. Murine tyrosine hydroxylase maps to the distal end of chromosome 7 within a region conserved in mouse and man. J Neurogenet. 1987 Aug;4(5):259-66. PubMed PMID: 2889817.

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Brilliant MH, Szabo G, Katarova Z, Kozak CA, Glaser TM, Greenspan RJ, Housman DE. Sequences homologous to glutamic acid decarboxylase cDNA are present on mouse chromosomes 2 and 10. Genomics. 1990 Jan;6(1):115-22. doi: 10.1016/0888-7543(90)90455-4. PubMed PMID: 1968040.

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Fung BP, Brilliant MH, Chikaraishi DM. Brain-specific polyA- transcripts are detected in polyA+ RNA: do complex polyA- brain RNAs really exist?. J Neurosci. 1991 Mar;11(3):701-8. doi: 10.1523/JNEUROSCI.11-03-00701.1991. PubMed PMID: 1705966; PubMed Central PMCID: PMC6575355.

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Brilliant MH, Gondo Y, Eicher EM. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science. 1991 Apr 26;252(5005):566-9. doi: 10.1126/science.1673574. PubMed PMID: 1673574.

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Lyon MF, King TR, Gondo Y, Gardner JM, Nakatsu Y, Eicher EM, Brilliant MH. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci U S A. 1992 Aug 1;89(15):6968-72. doi: 10.1073/pnas.89.15.6968. PubMed PMID: 1495987; PubMed Central PMCID: PMC49626.

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Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science. 1992 Aug 21;257(5073):1121-4. doi: 10.1126/science.257.5073.1121. PubMed PMID: 1509264.

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Banerjee SA, Hoppe P, Brilliant M, Chikaraishi DM. 5' flanking sequences of the rat tyrosine hydroxylase gene target accurate tissue-specific, developmental, and transsynaptic expression in transgenic mice. J Neurosci. 1992 Nov;12(11):4460-7. doi: 10.1523/JNEUROSCI.12-11-04460.1992. PubMed PMID: 1359037; PubMed Central PMCID: PMC6575984.

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Brilliant MH, Gondo Y. Molecular characterization of the p(un) allele of the mouse pink-eyed dilution locus. Pigment Cell Res. 1992 Nov;5(5 Pt 2):271-3. doi: 10.1111/j.1600-0749.1992.tb00548.x. PubMed PMID: 1292008.

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Brilliant MH. The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. Mamm Genome. 1992;3(4):187-91. doi: 10.1007/BF00355717. Review. PubMed PMID: 1611213.

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Brilliant MH, Gondo Y, Eicher EM. The mouse pink-eyed unstable mutation: a DNA duplication revealed by genome scanning. Pigment Cell Res. 1992;Suppl 2:271-4. PubMed PMID: 1409429.

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Nakatsu Y, Gondo Y, Brilliant MH. The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region. Mamm Genome. 1992;2(1):69-71. doi: 10.1007/BF00570442. PubMed PMID: 1347469.

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Gondo Y, Gardner JM, Nakatsu Y, Durham-Pierre D, Deveau SA, Kuper C, Brilliant MH. High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation. Proc Natl Acad Sci U S A. 1993 Jan 1;90(1):297-301. doi: 10.1073/pnas.90.1.297. PubMed PMID: 8419934; PubMed Central PMCID: PMC45647.

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Chang-Yeh A, Mold DE, Brilliant MH, Huang RC. The mouse intracisternal A particle-promoted placental gene retrotransposition is mouse-strain-specific. Proc Natl Acad Sci U S A. 1993 Jan 1;90(1):292-6. doi: 10.1073/pnas.90.1.292. PubMed PMID: 7678343; PubMed Central PMCID: PMC45646.

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Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nat Genet. 1994 Jun;7(2):176-9. doi: 10.1038/ng0694-176. PubMed PMID: 7920637.

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Brilliant MH, Ching A, Nakatsu Y, Eicher EM. The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains. Genetics. 1994 Sep;138(1):203-11. doi: 10.1093/genetics/138.1.203. PubMed PMID: 8001787; PubMed Central PMCID: PMC1206131.

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Brilliant MH, King R, Francke U, Schuffenhauer S, Meitinger T, Gardner JM, Durham-Pierre D, Nakatsu Y. The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. Pigment Cell Res. 1994 Dec;7(6):398-402. doi: 10.1111/j.1600-0749.1994.tb00068.x. PubMed PMID: 7761348.

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Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant MH, Orlow SJ. Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci U S A. 1994 Dec 6;91(25):12071-75. doi: 10.1073/pnas.91.25.12071. PubMed PMID: 7991586; PubMed Central PMCID: PMC45378.

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Brilliant MH, Williams RW, Conti CJ, Angel JM, Oakey RJ, Holdener BC. Mouse chromosome 7. Mamm Genome. 1994;5 Spec No:S104-23. PubMed PMID: 7719000.

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Magliocco AM, Brilliant MH. Genome scanning detects genetic alterations in human ovarian carcinoma. Hum Mutat. 1994;4(2):141-9. doi: 10.1002/humu.1380040209. PubMed PMID: 7981718.

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Brilliant MH, Gondo Y, Magliocco A. One-dimensional genome scanning: identification of the basis of a mouse mutation and identification of genomic changes in ovarian carcinoma. Electrophoresis. 1995 Feb;16(2):163-7. doi: 10.1002/elps.1150160129. PubMed PMID: 7774555.

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Gondo Y, Brilliant MH. Theoretical basis of one-dimensional genome scanning: a direct method to identify the site of a mutation. Electrophoresis. 1995 Feb;16(2):174-8. doi: 10.1002/elps.1150160131. Review. PubMed PMID: 7774557.

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Gahl WA, Potterf B, Durham-Pierre D, Brilliant MH, Hearing VJ. Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes. Pigment Cell Res. 1995 Oct;8(5):229-33. doi: 10.1111/j.1600-0749.1995.tb00668.x. PubMed PMID: 8789196.

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Oakey RJ, Keiper NM, Ching AS, Brilliant MH. Molecular analysis of the cDNAs encoded by the pun and pJ alleles of the pink-eyed dilution locus. Mamm Genome. 1996 Apr;7(4):315-6. doi: 10.1007/s003359900089. PubMed PMID: 8661705.

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Oetting WS, Brilliant MH, King RA. The clinical spectrum of albinism in humans. Mol Med Today. 1996 Aug;2(8):330-5. doi: 10.1016/1357-4310(96)81798-9. Review. PubMed PMID: 8796918.

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Durham-Pierre D, King RA, Naber JM, Laken S, Brilliant MH. Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans. Hum Mutat. 1996;7(4):370-3. doi: 10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#. PubMed PMID: 8723691.

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Brilliant MH, Williams RW, Holdener BC, Angel JM. Encyclopedia of the mouse genome V. Mouse chromosome 7. Mamm Genome. 1996;6 Spec No:S135-50. PubMed PMID: 8800761.

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Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, Krasowski MD, Rick CE, Korpi ER, Mäkelä R, Brilliant MH, Hagiwara N, Ferguson C, Snyder K, Olsen RW. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):4143-8. doi: 10.1073/pnas.94.8.4143. PubMed PMID: 9108119; PubMed Central PMCID: PMC20582.

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Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT, Puri N, Finger JN, Hagiwara N, Lehman AL, Gales TL, Bayer ME, King RA, Brilliant MH. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9238-43. doi: 10.1073/pnas.94.17.9238. PubMed PMID: 9256466; PubMed Central PMCID: PMC23134.

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Lund PM, Puri N, Durham-Pierre D, King RA, Brilliant MH. Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. J Med Genet. 1997 Sep;34(9):733-5. doi: 10.1136/jmg.34.9.733. PubMed PMID: 9321758; PubMed Central PMCID: PMC1051056.

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Puri N, Durbam-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH. Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. Hum Genet. 1997 Oct;100(5-6):651-6. doi: 10.1007/s004390050568. PubMed PMID: 9341887.

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Hubbard FC, Goodrow TL, Liu SC, Brilliant MH, Basset P, Mains RE, Klein-Szanto AJ. Expression of PACE4 in chemically induced carcinomas is associated with spindle cell tumor conversion and increased invasive ability. Cancer Res. 1997 Dec 1;57(23):5226-31. PubMed PMID: 9393739.

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Brilliant MH, Williams RW, Holdener BC, Angel JM, Stern M, Hunter K. Mouse chromosome 7. Mamm Genome. 1997;7 Spec No:S121-42. doi: 10.1007/s003359900319. PubMed PMID: 9233390.

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Wildenberg SC, Fryer JP, Gardner JM, Oetting WS, Brilliant MH, King RA. Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. J Invest Dermatol. 1998 May;110(5):777-81. doi: 10.1046/j.1523-1747.1998.00183.x. PubMed PMID: 9579545.

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Lehman AL, Nakatsu Y, Ching A, Bronson RT, Oakey RJ, Keiper-Hrynko N, Finger JN, Durham-Pierre D, Horton DB, Newton JM, Lyon MF, Brilliant MH. A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9436-41. doi: 10.1073/pnas.95.16.9436. PubMed PMID: 9689098; PubMed Central PMCID: PMC21356.

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Sweet HO, Brilliant MH, Cook SA, Johnson KR, Davisson MT. A new allelic series for the underwhite gene on mouse chromosome 15. J Hered. 1998 Nov-Dec;89(6):546-51. doi: 10.1093/jhered/89.6.546. PubMed PMID: 9864865.

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Oetting WS, Gardner JM, Fryer JP, Ching A, Durham-Pierre D, King RA, Brilliant MH. Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online. Hum Mutat. 1998;12(6):434. doi: 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.0.CO;2-7. PubMed PMID: 10671067.

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Orlow SJ, Brilliant MH. The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. Exp Eye Res. 1999 Feb;68(2):147-54. doi: 10.1006/exer.1998.0599. PubMed PMID: 10068480.

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Hagiwara N, Klewer SE, Samson RA, Erickson DT, Lyon MF, Brilliant MH. Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Proc Natl Acad Sci U S A. 2000 Apr 11;97(8):4180-5. doi: 10.1073/pnas.97.8.4180. PubMed PMID: 10760285; PubMed Central PMCID: PMC18189.

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Puri N, Gardner JM, Brilliant MH. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J Invest Dermatol. 2000 Oct;115(4):607-13. doi: 10.1046/j.1523-1747.2000.00108.x. PubMed PMID: 10998131.

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Lehman AL, Silvers WK, Puri N, Wakamatsu K, Ito S, Brilliant MH. The underwhite (uw) locus acts autonomously and reduces the production of melanin. J Invest Dermatol. 2000 Oct;115(4):601-6. doi: 10.1046/j.1523-1747.2000.00107.x. PubMed PMID: 10998130.

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Cohen-Barak O, Hagiwara N, Arlt MF, Horton JP, Brilliant MH. Cloning, characterization and chromosome mapping of the human SOX6 gene. Gene. 2001 Mar 7;265(1-2):157-64. doi: 10.1016/s0378-1119(01)00346-8. PubMed PMID: 11255018.

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Cramer P, Brilliant MA. Defense use and defense understanding in children. J Pers. 2001 Apr;69(2):297-322. doi: 10.1111/1467-6494.00147. PubMed PMID: 11339801.

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Brilliant MH. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 2001 Apr;14(2):86-93. doi: 10.1034/j.1600-0749.2001.140203.x. Review. PubMed PMID: 11310796.

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Brilliant M, Gardner J. Melanosomal pH, pink locus protein and their roles in melanogenesis. J Invest Dermatol. 2001 Aug;117(2):386-7. doi: 10.1046/j.0022-202x.2001.01462.x. PubMed PMID: 11511323.

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Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet. 2001 Nov;69(5):981-8. doi: 10.1086/324340. Epub 2001 Sep 26. PubMed PMID: 11574907; PubMed Central PMCID: PMC1274374.

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Magliocco A, Brilliant M. One-dimensional genome scanning-detection of genomic changes in ovarian carcinoma. Methods Mol Med. 2001;39:357-64. doi: 10.1385/1-59259-071-3:357. PubMed PMID: 21340791.

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Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Am J Hum Genet. 2003 Jan;72(1):62-72. doi: 10.1086/345380. Epub 2002 Dec 5. PubMed PMID: 12469324; PubMed Central PMCID: PMC420013.

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Hagiwara N, Katarova Z, Siracusa LD, Brilliant MH. Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice. Dev Biol. 2003 Feb 1;254(1):93-101. doi: 10.1016/s0012-1606(02)00030-1. PubMed PMID: 12606284.