A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.

Autor: Meyer-Schuman R; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Cale AR; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Pierluissi JA; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Jonatzke KE; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Park YN; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Lenk GM; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Oprescu SN; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Grachtchouk MA; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA., Dlugosz AA; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA; Rogel Cancer Center, University of Michigan, Ann Arbor, MI, USA; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA., Beg AA; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA., Meisler MH; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Antonellis A; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Neurology, University of Michigan, Ann Arbor, MI, USA. Electronic address: antonell@umich.edu.

Publikováno v: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100324. Date of Electronic Publication: 2024 Jul 02.

Predictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations.

Autor: Meyer-Schuman R; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Cale AR; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Pierluissi JA; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Jonatzke KE; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Park YN; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Lenk GM; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Oprescu SN; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Grachtchouk MA; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA., Dlugosz AA; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA.; Rogel Cancer Center, University of Michigan, Ann Arbor, MI, USA.; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA., Beg AA; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA., Meisler MH; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Antonellis A; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Mar 27. Date of Electronic Publication: 2024 Mar 27.