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Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.
Terhune EA, Cuevas MT, Monley AM, Wethey CI, Chen X, Cattell MV, Bayrak MN, Bland MR, Sutphin B, Trahan GD, Taylor MRG, Niswander LA, Jones KL, Baschal EE, Antunes L, Dobbs M, Gurnett C, Appel B, Gray R, Hadley Miller N. Terhune EA, et al. Among authors: jones kl. Hum Mutat. 2021 Apr;42(4):392-407. doi: 10.1002/humu.24162. Epub 2021 Feb 7. Hum Mutat. 2021. PMID: 33382518 Free PMC article.
MEMO1 drives cranial endochondral ossification and palatogenesis.
Van Otterloo E, Feng W, Jones KL, Hynes NE, Clouthier DE, Niswander L, Williams T. Van Otterloo E, et al. Among authors: jones kl. Dev Biol. 2016 Jul 15;415(2):278-295. doi: 10.1016/j.ydbio.2015.12.024. Epub 2015 Dec 31. Dev Biol. 2016. PMID: 26746790 Free PMC article.
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
Begay RL, Tharp CA, Martin A, Graw SL, Sinagra G, Miani D, Sweet ME, Slavov DB, Stafford N, Zeller MJ, Alnefaie R, Rowland TJ, Brun F, Jones KL, Gowan K, Mestroni L, Garrity DM, Taylor MR. Begay RL, et al. Among authors: jones kl. JACC Basic Transl Sci. 2016 Aug;1(5):344-359. doi: 10.1016/j.jacbts.2016.05.004. Epub 2016 Jul 27. JACC Basic Transl Sci. 2016. PMID: 28008423 Free PMC article.
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology.
Baschal EE, Terhune EA, Wethey CI, Baschal RM, Robinson KD, Cuevas MT, Pradhan S, Sutphin BS, Taylor MRG, Gowan K, Pearson CG, Niswander LA, Jones KL, Miller NH. Baschal EE, et al. Among authors: jones kl. G3 (Bethesda). 2018 Jul 31;8(8):2663-2672. doi: 10.1534/g3.118.200290. G3 (Bethesda). 2018. PMID: 29930198 Free PMC article.
Increased galactose expression and enhanced clearance in patients with low von Willebrand factor.
Aguila S, Lavin M, Dalton N, Patmore S, Chion A, Trahan GD, Jones KL, Keenan C, Brophy TM, O'Connell NM, Ryan K, Byrne M, Nolan M, Patel A, Preston RJS, James P, Di Paola J, O'Sullivan JM, O'Donnell JS. Aguila S, et al. Among authors: jones kl. Blood. 2019 Apr 4;133(14):1585-1596. doi: 10.1182/blood-2018-09-874636. Epub 2019 Feb 15. Blood. 2019. PMID: 30770394 Free article.
Compromised global embryonic transcriptome associated with advanced maternal age.
McCallie BR, Parks JC, Trahan GD, Jones KL, Coate BD, Griffin DK, Schoolcraft WB, Katz-Jaffe MG. McCallie BR, et al. Among authors: jones kl. J Assist Reprod Genet. 2019 May;36(5):915-924. doi: 10.1007/s10815-019-01438-5. Epub 2019 Apr 25. J Assist Reprod Genet. 2019. PMID: 31025158 Free PMC article.
1,172 results