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104 results

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Page 1
ABCB6 mutations cause ocular coloboma.
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z. Wang L, et al. Among authors: paw bh. Am J Hum Genet. 2012 Jan 13;90(1):40-8. doi: 10.1016/j.ajhg.2011.11.026. Epub 2012 Jan 5. Am J Hum Genet. 2012. PMID: 22226084 Free PMC article.
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH. Hildick-Smith GJ, et al. Among authors: paw bh. Am J Hum Genet. 2013 Nov 7;93(5):906-14. doi: 10.1016/j.ajhg.2013.09.011. Epub 2013 Oct 10. Am J Hum Genet. 2013. PMID: 24119684 Free PMC article.
Teleost growth factor independence (gfi) genes differentially regulate successive waves of hematopoiesis.
Cooney JD, Hildick-Smith GJ, Shafizadeh E, McBride PF, Carroll KJ, Anderson H, Shaw GC, Tamplin OJ, Branco DS, Dalton AJ, Shah DI, Wong C, Gallagher PG, Zon LI, North TE, Paw BH. Cooney JD, et al. Among authors: paw bh. Dev Biol. 2013 Jan 15;373(2):431-41. doi: 10.1016/j.ydbio.2012.08.015. Epub 2012 Aug 29. Dev Biol. 2013. PMID: 22960038 Free PMC article.
Reductions in the mitochondrial ABC transporter Abcb10 affect the transcriptional profile of heme biosynthesis genes.
Seguin A, Takahashi-Makise N, Yien YY, Huston NC, Whitman JC, Musso G, Wallace JA, Bradley T, Bergonia HA, Kafina MD, Matsumoto M, Igarashi K, Phillips JD, Paw BH, Kaplan J, Ward DM. Seguin A, et al. Among authors: paw bh. J Biol Chem. 2017 Sep 29;292(39):16284-16299. doi: 10.1074/jbc.M117.797415. Epub 2017 Aug 14. J Biol Chem. 2017. PMID: 28808058 Free PMC article.
Mutation mapping and identification by whole-genome sequencing.
Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR. Leshchiner I, et al. Among authors: paw bh. Genome Res. 2012 Aug;22(8):1541-8. doi: 10.1101/gr.135541.111. Epub 2012 May 3. Genome Res. 2012. PMID: 22555591 Free PMC article.
TMEM14C is required for erythroid mitochondrial heme metabolism.
Yien YY, Robledo RF, Schultz IJ, Takahashi-Makise N, Gwynn B, Bauer DE, Dass A, Yi G, Li L, Hildick-Smith GJ, Cooney JD, Pierce EL, Mohler K, Dailey TA, Miyata N, Kingsley PD, Garone C, Hattangadi SM, Huang H, Chen W, Keenan EM, Shah DI, Schlaeger TM, DiMauro S, Orkin SH, Cantor AB, Palis J, Koehler CM, Lodish HF, Kaplan J, Ward DM, Dailey HA, Phillips JD, Peters LL, Paw BH. Yien YY, et al. Among authors: paw bh. J Clin Invest. 2014 Oct;124(10):4294-304. doi: 10.1172/JCI76979. Epub 2014 Aug 26. J Clin Invest. 2014. PMID: 25157825 Free PMC article.
104 results