MYT1L in the making: emerging insights on functions of a neurodevelopmental disorder gene

J Chen, A Yen, CP Florian, JD Dougherty - Translational psychiatry, 2022 - nature.com
Large scale human genetic studies have shown that loss of function (LoF) mutations in
MYT1L are implicated in neurodevelopmental disorders (NDDs). Here, we provide an …

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

J Coursimault, AM Guerrot, MM Morrow, C Schramm… - Human genetics, 2022 - Springer
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include
heterozygous missense, truncating variants and 2p25. 3 microdeletions and cause a …

A MYT1L syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturation

J Chen, ME Lambo, X Ge, JT Dearborn, Y Liu… - Neuron, 2021 - cell.com
Human genetics have defined a new neurodevelopmental syndrome caused by loss-of-
function mutations in MYT1L, a transcription factor known for enabling fibroblast-to-neuron …

MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention

B Weigel, JF Tegethoff, SD Grieder, B Lim… - Molecular …, 2023 - nature.com
MYT1L is an autism spectrum disorder (ASD)-associated transcription factor that is
expressed in virtually all neurons throughout life. How MYT1L mutations cause neurological …

MYT1L deficiency impairs excitatory neuron trajectory during cortical development

A Yen, S Sarafinovska, X Chen, DD Skinner… - Nature …, 2024 - nature.com
Mutations reducing the function of MYT1L, a neuron-specific transcription factor, are
associated with a syndromic neurodevelopmental disorder. MYT1L is used as a pro-neural …

Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice

S Kim, H Oh, SH Choi, YE Yoo, YW Noh, Y Cho, GH Im… - Cell Reports, 2022 - cell.com
Myelin transcription factor 1 like (Myt1l), a zinc-finger transcription factor, promotes neuronal
differentiation and is implicated in autism spectrum disorder (ASD) and intellectual disability …

Transcriptomic characterization of dying hair cells in the avian cochlea

N Benkafadar, A Janesick, M Scheibinger, AH Ling… - Cell reports, 2021 - cell.com
Sensory hair cells are prone to apoptosis caused by various drugs including aminoglycoside
antibiotics. In mammals, this vulnerability results in permanent hearing loss because lost …

Transcription factors with targeting potential in gliomas

AI Giannopoulou, DS Kanakoglou, C Piperi - International Journal of …, 2022 - mdpi.com
Gliomas portray a large and heterogeneous group of CNS tumors, encompassing a wide
range of low-to high-grade tumors, as defined by histological and molecular characteristics …

PSI-Sigma: a comprehensive splicing-detection method for short-read and long-read RNA-seq analysis

KT Lin, AR Krainer - Bioinformatics, 2019 - academic.oup.com
Abstract Motivation Percent Spliced-In (PSI) values are commonly used to report alternative
pre-mRNA splicing (AS) changes. Previous PSI-detection tools were limited to specific AS …

MYT1L is required for suppressing earlier neuronal development programs in the adult mouse brain

J Chen, NA Fuhler, KK Noguchi… - Genome research, 2023 - genome.cshlp.org
In vitro studies indicate the neurodevelopmental disorder gene myelin transcription factor 1-
like (MYT1L) suppresses non-neuronal lineage genes during fibroblast-to-neuron direct …