Jonathan J. Augustin

ORCID: 0000-0002-3302-4426
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About
Contact & Profiles
Research Areas
  • Epigenetics and DNA Methylation
  • Single-cell and spatial transcriptomics
  • Acute Myeloid Leukemia Research
  • Cancer-related gene regulation
  • Genomics and Rare Diseases
  • RNA modifications and cancer
  • Genetics and Neurodevelopmental Disorders
  • RNA Research and Splicing
  • Cell Image Analysis Techniques
  • Gene Regulatory Network Analysis
  • CRISPR and Genetic Engineering
  • Healthcare Regulation
  • Circular RNAs in diseases
  • Pluripotent Stem Cells Research
  • Youth, Drugs, and Violence
  • MicroRNA in disease regulation
  • Cancer-related molecular mechanisms research
  • Protein Degradation and Inhibitors
  • Cancer Cells and Metastasis
  • Maternal and Neonatal Healthcare

Broad Center
2024-2025

University of California, San Francisco
2024-2025

University of San Francisco
2024

Johns Hopkins Medicine
2018-2022

Johns Hopkins University
2018-2022

H. L. Snyder Medical Foundation
2019

University of Alabama at Birmingham
2013-2015

The development of the human neocortex is highly dynamic, involving complex cellular trajectories controlled by gene regulation1. Here we collected paired single-nucleus chromatin accessibility and transcriptome data from 38 neocortical samples encompassing both prefrontal cortex primary visual cortex. These span five main developmental stages, ranging first trimester to adolescence. In parallel, performed spatial transcriptomic analysis on a subset illustrate organization intercellular...

10.1038/s41586-024-08351-7 article EN cc-by-nc-nd Nature 2025-01-08

Abstract Background The cell cycle is a highly conserved, continuous process which controls faithful replication and division of cells. Single-cell technologies have enabled increasingly precise measurements the both as biological interest possible confounding factor. Despite its importance conservation, there no universally applicable approach to infer position in with high-resolution from single-cell RNA-seq data. Results Here, we present tricycle, an R/Bioconductor package, address this...

10.1186/s13059-021-02581-y article EN cc-by Genome biology 2022-01-31

The development of the human neocortex is a highly dynamic process and involves complex cellular trajectories controlled by cell-type-specific gene regulation

10.1101/2024.01.16.575956 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2024-01-16

Chromatin modifiers act to coordinate gene expression changes critical neuronal differentiation from neural stem/progenitor cells (NSPCs). Lysine-specific methyltransferase 2D (KMT2D) encodes a histone that promotes transcriptional activation and is frequently mutated in cancers the majority (>70%) of patients diagnosed with congenital, multisystem intellectual disability disorder Kabuki syndrome 1 (KS1). Critical roles for KMT2D are established various non-neural tissues, but effects loss...

10.1172/jci.insight.129375 article EN JCI Insight 2019-08-29

Differentiated cells can be reprogrammed to the pluripotent state by overexpression of defined factors, and this process is profoundly influenced epigenetic mechanisms including dynamic histone modifications. Changes in H3K4 methylation have been shown predominant activating response early stage cellular reprogramming. Mechanisms underlying such priming, however, are not well understood. Here we show that expression reprogramming factors (Yamanaka Oct4, Sox2, Klf4 Myc), especially Myc,...

10.1371/journal.pone.0145336 article EN cc-by PLoS ONE 2015-12-21

ABSTRACT Background The cell cycle is a highly conserved, continuous process which controls faithful replication and division of cells. Single-cell technologies have enabled increasingly precise measurements the both as biological interest possible confounding factor. Despite its importance conservation, there no universally applicable approach to infer position in with high-resolution from single-cell RNA-seq data. Results Here, we present tricycle, an R/Bioconductor package, address this...

10.1101/2021.04.06.438463 preprint EN cc-by bioRxiv (Cold Spring Harbor Laboratory) 2021-04-06

Abstract Chromatin modifiers act to coordinate gene expression changes critical neuronal differentiation from neural stem/progenitor cells (NSPCs). Lysine-specific methyltransferase 2D (KMT2D) encodes a histone that promotes transcriptional activation, and is frequently mutated in cancers the majority (>70%) of patients diagnosed with congenital, multisystem intellectual disability (ID) disorder Kabuki syndrome 1 (KS1). Critical roles for KMT2D are established various non-neural tissues,...

10.1101/484410 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2018-12-02

Ablation of the long non-coding RNA (lncRNA) Pantr2 results in microcephaly a knockout murine model corticogenesis, however, precise mechanisms used are unknown. We present evidence that is trans-acting lncRNA regulates gene expression and chromatin accessibility both vivo vitro. demonstrate ectopic neuroblastoma cell line alters under differentiating conditions, loss gain function changes to cell-cycle dynamics. show transcription factor Nfix cycle regulator Rgcc negatively regulated by ....

10.1101/2022.10.07.511381 preprint EN cc-by bioRxiv (Cold Spring Harbor Laboratory) 2022-10-08
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