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Page 1
Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3.
Bok D, Galbraith G, Lopez I, Woodruff M, Nusinowitz S, BeltrandelRio H, Huang W, Zhao S, Geske R, Montgomery C, Van Sligtenhorst I, Friddle C, Platt K, Sparks MJ, Pushkin A, Abuladze N, Ishiyama A, Dukkipati R, Liu W, Kurtz I. Bok D, et al. Among authors: friddle c. Nat Genet. 2003 Jul;34(3):313-9. doi: 10.1038/ng1176. Nat Genet. 2003. PMID: 12808454
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Zambrowicz BP, Abuin A, Ramirez-Solis R, Richter LJ, Piggott J, BeltrandelRio H, Buxton EC, Edwards J, Finch RA, Friddle CJ, Gupta A, Hansen G, Hu Y, Huang W, Jaing C, Key BW Jr, Kipp P, Kohlhauff B, Ma ZQ, Markesich D, Payne R, Potter DG, Qian N, Shaw J, Schrick J, Shi ZZ, Sparks MJ, Van Sligtenhorst I, Vogel P, Walke W, Xu N, Zhu Q, Person C, Sands AT. Zambrowicz BP, et al. Among authors: friddle cj. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14. doi: 10.1073/pnas.2336103100. Epub 2003 Nov 10. Proc Natl Acad Sci U S A. 2003. PMID: 14610273 Free PMC article.
High-throughput mouse knockouts provide a functional analysis of the genome.
Friddle CJ, Abuin A, Ramirez-Solis R, Richter LJ, Buxton EC, Edwards J, Finch RA, Gupta A, Hansen G, Holt KH, Hu Y, Huang W, Jaing C, Key BW Jr, Kipp P, Kohlhauff B, Ma ZQ, Markesich D, Newhouse M, Perry T, Platt KA, Potter DG, Qian N, Shaw J, Schrick J, Shi ZZ, Sparks MJ, Tran D, Wann ER, Walke W, Wallace JD, Xu N, Zhu Q, Person C, Sands AT, Zambrowicz BP. Friddle CJ, et al. Cold Spring Harb Symp Quant Biol. 2003;68:311-5. doi: 10.1101/sqb.2003.68.311. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338631 No abstract available.
Full-genome scan for linkage in 50 families segregating the bipolar affective disease phenotype.
Friddle C, Koskela R, Ranade K, Hebert J, Cargill M, Clark CD, McInnis M, Simpson S, McMahon F, Stine OC, Meyers D, Xu J, MacKinnon D, Swift-Scanlan T, Jamison K, Folstein S, Daly M, Kruglyak L, Marr T, DePaulo JR, Botstein D. Friddle C, et al. Am J Hum Genet. 2000 Jan;66(1):205-15. doi: 10.1086/302697. Am J Hum Genet. 2000. PMID: 10631152 Free PMC article.
Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect.
Stine OC, Xu J, Koskela R, McMahon FJ, Gschwend M, Friddle C, Clark CD, McInnis MG, Simpson SG, Breschel TS, Vishio E, Riskin K, Feilotter H, Chen E, Shen S, Folstein S, Meyers DA, Botstein D, Marr TG, DePaulo JR. Stine OC, et al. Among authors: friddle c. Am J Hum Genet. 1995 Dec;57(6):1384-94. Am J Hum Genet. 1995. PMID: 8533768 Free PMC article.
Genome-wide scan of bipolar disorder in 65 pedigrees: supportive evidence for linkage at 8q24, 18q22, 4q32, 2p12, and 13q12.
McInnis MG, Lan TH, Willour VL, McMahon FJ, Simpson SG, Addington AM, MacKinnon DF, Potash JB, Mahoney AT, Chellis J, Huo Y, Swift-Scanlan T, Chen H, Koskela R, Stine OC, Jamison KR, Holmans P, Folstein SE, Ranade K, Friddle C, Botstein D, Marr T, Beaty TH, Zandi P, DePaulo JR. McInnis MG, et al. Among authors: friddle c. Mol Psychiatry. 2003 Mar;8(3):288-98. doi: 10.1038/sj.mp.4001277. Mol Psychiatry. 2003. PMID: 12660801