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MECP2 Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome Patients.
Olson CO, Pejhan S, Kroft D, Sheikholeslami K, Fuss D, Buist M, Ali Sher A, Del Bigio MR, Sztainberg Y, Siu VM, Ang LC, Sabourin-Felix M, Moss T, Rastegar M. Olson CO, et al. Among authors: moss t. Front Genet. 2018 Dec 19;9:635. doi: 10.3389/fgene.2018.00635. eCollection 2018. Front Genet. 2018. PMID: 30619462 Free PMC article.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Among authors: moss t. Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Hum Mol Genet. 2018. PMID: 29300972 Free PMC article.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Among authors: moss t. Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049. Hum Mol Genet. 2018. PMID: 29447355 Free PMC article. No abstract available.
668 results