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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC. Cederquist GY, et al. Among authors: tischfield ma. Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep 21. Hum Mol Genet. 2012. PMID: 23001566 Free PMC article.
Cranium growth, patterning and homeostasis.
Ang PS, Matrongolo MJ, Zietowski ML, Nathan SL, Reid RR, Tischfield MA. Ang PS, et al. Among authors: tischfield ma. Development. 2022 Nov 15;149(22):dev201017. doi: 10.1242/dev.201017. Epub 2022 Nov 21. Development. 2022. PMID: 36408946 Free PMC article.
HOXA1 mutations are not a common cause of Duane anomaly.
Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC. Tischfield MA, et al. Am J Med Genet A. 2006 Apr 15;140(8):900-2. doi: 10.1002/ajmg.a.31167. Am J Med Genet A. 2006. PMID: 16528738 Free PMC article. Review. No abstract available.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC. Tischfield MA, et al. Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011. Cell. 2010. PMID: 20074521 Free PMC article.
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Whitman MC, et al. Among authors: tischfield ma. Am J Med Genet A. 2016 Feb;170A(2):297-305. doi: 10.1002/ajmg.a.37362. Epub 2015 Dec 6. Am J Med Genet A. 2016. PMID: 26639658 Free PMC article.
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC. Park JG, et al. Among authors: tischfield ma. Am J Hum Genet. 2016 Jun 2;98(6):1220-1227. doi: 10.1016/j.ajhg.2016.03.023. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181683 Free PMC article.
29 results