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An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.
Sci Rep. 2020 Feb 12;10(1):2501. doi: 10.1038/s41598-020-59455-9.
Sci Rep. 2020.
PMID: 32051525
Free PMC article.
Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
Roland BP, Richards KR, Hrizo SL, Eicher S, Barile ZJ, Chang TC, Savon G, Bianchi P, Fermo E, Ricerca BM, Tortorolo L, Vockley J, VanDemark AP, Palladino MJ.
Roland BP, et al. Among authors: chang tc.
Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2257-2266. doi: 10.1016/j.bbadis.2019.05.002. Epub 2019 May 7.
Biochim Biophys Acta Mol Basis Dis. 2019.
PMID: 31075491
Free PMC article.
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