Timothy Nottoli

A Retinoic Acid Autoregulatory Loop Governing Prefrontal-Motor Arealization

The paper identifies an RA-autoregulatory loop in the developing PFC that maintains RA signaling and defines cortical areal identities.

Competing Programs Shape Cortical Sensorimotor-Association Axis Development

The paper presents the MIND model, showing that competing induction and exclusion programs shape the sensorimotor-to-association axis in the neocortex across species.

GDF3 promotes adipose tissue macrophage-mediated inflammation via altered chromatin accessibility during aging

This study shows that GDF3 promotes inflammation in aged adipose tissue macrophages via SMAD2/3 signaling and chromatin changes, offering a therapeutic target for age-related inflammation.

Cell type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development

This study identifies cell type-specific gene expression changes in Chd8 haploinsufficient mouse cortex during development, highlighting dysregulation in progenitors and neurons.

On-target toxicity limits the efficacy of CDK11 inhibition against cancers with 1p36 deletions

This study shows CDK11 is critical for cancer cell survival and identifies 1p36 deletions as a biomarker for CDK11 inhibitor sensitivity, but on-target toxicity limits therapeutic efficacy.

Heterozygosity for neurodevelopmental disorder-associated TRIO variants yields distinct deficits in behavior, neuronal development, and synaptic transmission in mice.

This study examines how different heterozygous TRIO variants in mice affect behavior, brain development, and synaptic function, revealing distinct phenotypes linked to neurodevelopmental disorders.

Canonical nuclear envelope protein emerin regulates structure and integrity of the erythrocyte plasma membrane

This study shows emerin, a nuclear envelope protein, is expressed in red blood cells and regulates membrane structure and function, with mutations linked to RBC phenotypes like MCV.

A versatile cohesion manipulation system reveals CENP-A dysfunction accelerates female reproductive age-related egg aneuploidy.

CpG island turnover events predict evolutionary changes in enhancer activity

The paper shows that turnover of CpG islands in enhancers is linked to changes in enhancer activity across mammals, including humans, and contributes to gene regulatory innovation.

High-fidelity enhanced AsCas12a knock-in mice for efficient multiplexed gene editing, disease modeling and orthogonal immunogenetics

Evolutionary innovation in conserved regulatory elements across the mammalian tree of life

The paper identifies accelerated evolution in conserved enhancer elements across mammals and links it to regulatory function turnover and developmental gene modifications.

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.

Modeling uniquely human gene regulatory function in humanized mice

The paper examines the role of the human-specific enhancer HACNS1 in human evolution by analyzing its effects on gene expression in humanized mice.

Disrupting Pitx1 Regulatory Topology Results In Overtly Normal Limb Development

The paper disrupts the major promoter-enhancer interaction for Pitx1 in mice and finds minimal phenotypic effects despite complete disruption of the topological interaction.