Explanipedia

Human-specific tandem repeat in CACNA1C modulates responses to neuronal stimulation Open

Janet Song, Fikri Birey, Tzu-Chiao Hung, Nicola Hall, Catherine Guenther , et al. · 2025

The recent development of long-read sequencing has made it possible to catalog variable number tandem repeats (VNTRs) in the human genome. However, little is known about their functional consequences. Here, we characterized the effect of T…

Pretraining Improves Prediction of Genomic Datasets Across Species Open

Fangrui Huang, Y. Wang, Janet Song, Ashok Cutkosky · 2025

Recent studies suggest that deep neural network models trained on thousands of human genomic datasets can accurately predict genomic features, including gene expression and chromatin accessibility. However, training these models is computa…

236 SCOPE-KIDS: feasibility study of a collaborative care model for delivering youth urgent mental health care Open

May D. Wang, Janet Song, Lauren Riggin, Ze’ev Lewis, Rachel Pokroy , et al. · 2025

FOS binding sites are a hub for the evolution of activity-dependent gene regulatory programs in human neurons Open

Ava C. Carter, Gabriel T. Koreman, Jillian E. Petrocelli, Jane Robb, Evan M. Bushinsky , et al. · 2025

After birth, sensory inputs to neurons trigger the induction of activity-dependent genes (ADGs) that mediate many aspects of neuronal maturation and plasticity. To identify human-specific ADGs, we characterized these genes in human-chimpan…

Human-chimpanzee tetraploid system defines mechanisms of species-specific neural gene regulation Open

Janet Song, Ava C. Carter, Evan M. Bushinsky, Samantha G. Beck, Jillian E Petrocelli , et al. · 2025

A major challenge in human evolutionary biology is to pinpoint genetic differences that underlie human-specific traits, such as increased neuron number and differences in cognitive behaviors. We used human-chimpanzee tetraploid cells to di…

Transcriptomic Convergence and the Female Protective Effect in Autism Open

Rebecca Andersen, Maya Talukdar, T. Sakamoto, Janet Song, Xuyu Qian , et al. · 2025

Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by deficits in social communication as well as restricted and/or repetitive behaviors. ASD is highly heritable 1 , with a complex genetic architecture: l…

Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk Open

Taehwan Shin, Janet Song, Michael Kosicki, Connor Kenny, Samantha G. Beck , et al. · 2024

Little is known about the role of non-coding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of non-coding regions: human accelerated regions (HARs), which show signatures of positive selection in human…

Geospatial investigations in Colombia reveal variations in the distribution of mood and psychotic disorders Open

Janet Song, Oscar M. Ramirez, Justin T Okano, Susan K. Service, Juan De La Hoz , et al. · 2024

Comparative transcriptomics reveals human-specific cortical features Open

Nikolas L. Jorstad, Janet Song, David Exposito-Alonso, Hamsini Suresh, Nathan Castro-Pacheco , et al. · 2023

The cognitive abilities of humans are distinctive among primates, but their molecular and cellular substrates are poorly understood. We used comparative single-nucleus transcriptomics to analyze samples of the middle temporal gyrus (MTG) f…

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk Open

Taehwan Shin, Janet Song, Michael Kosicki, Connor Kenny, Samantha G. Beck , et al. · 2023

Little is known about the role of noncoding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of noncoding regions: Human Accelerated Regions (HARs), which show signatures of positive selection in humans;…

The role of migration networks in the development of Botswana’s generalized HIV epidemic Open

Janet Song, Justin T Okano, Joan Ponce, Lesego Busang, Khumo Seipone , et al. · 2023

The majority of people with HIV live in sub-Saharan Africa, where epidemics are generalized. For these epidemics to develop, populations need to be mobile. However, the role of population-level mobility in the development of generalized HI…

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria Open

Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo , et al. · 2023

Importance Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with oth…

Author response: The role of migration networks in the development of Botswana’s generalized HIV epidemic Open

Janet Song, Justin T Okano, Joan Ponce, Lesego Busang, Khumo Seipone , et al. · 2023

Full text Figures and data Side by side Abstract Editor's evaluation eLife digest Introduction Results Discussion Methods Data availability References Decision letter Author response Article and author information Metrics Abstract The majo…

Cbln1 Directs Axon Targeting by Corticospinal Neurons Specifically toward Thoraco-Lumbar Spinal Cord Open

Janet Song, Carolin Ruven, Payal Patel, Frances Ding, Jeffrey D. Macklis , et al. · 2023

Corticospinal neurons (CSN) are centrally required for skilled voluntary movement, which necessitates that they establish precise subcerebral connectivity with the brainstem and spinal cord. However, molecular controls regulating specifici…

Population mobility and the development of Botswana’s generalized HIV epidemic: a network analysis Open

Janet Song, Justin T Okano, Joan Ponce, Lesego Busang, Khumo Seipone , et al. · 2023

The majority of people with HIV live in sub-Saharan Africa, where HIV epidemics are generalized. For these epidemics to develop, populations need to be mobile. However, population-level mobility has not yet been studied in the context of t…

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system Open

Shyam K. Akula, Jack H. Marciano, Youngshin Lim, David Exposito-Alonso, Norma K. Hylton , et al. · 2023

Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh signaling remain poorly understood. Exome sequencing of families with polymicrogyria (disordered cor…

Comparative transcriptomics reveals human-specific cortical features Open

Nikolas L. Jorstad, Janet Song, David Exposito-Alonso, Hamsini Suresh, Nathan J. Castro , et al. · 2022

Humans have unique cognitive abilities among primates, including language, but their molecular, cellular, and circuit substrates are poorly understood. We used comparative single nucleus transcriptomics in adult humans, chimpanzees, gorill…

Cbln1 directs axon targeting by corticospinal neurons specifically toward thoraco-lumbar spinal cord Open

Janet Song, Carolin Ruven, Payal Patel, Frances Ding, Jeffrey D. Macklis , et al. · 2022

Corticospinal neurons (CSN) are centrally required for skilled voluntary movement, which necessitates that they establish precise subcerebral connectivity with the brainstem and spinal cord. However, molecular controls regulating specifici…

Geospatial analysis reveals distinct hotspots of severe mental illness Open

Janet Song, Oscar M. Ramirez, Justin T Okano, Susan K. Service, Juan De La Hoz , et al. · 2022

Background The identification of geographic variation in incidence can be an important step in the delineation of disease risk factors, but has mostly been undertaken in upper-income countries. Here, we use Electronic Health Records (EHR) …

Genetic studies of human–chimpanzee divergence using stem cell fusions Open

Janet Song, Rachel Grant, Veronica C. Behrens, Marek Kučka, Garrett A. Roberts Kingman , et al. · 2021

Significance Comparative studies of humans and chimpanzees have revealed many anatomical, physiological, behavioral, and molecular differences. However, it has been challenging to map these differences to particular chromosome regions. Her…

Corticospinal neuron subpopulation-specific developmental genes prospectively indicate mature segmentally specific axon projection targeting Open

Vibhu Sahni, Sara J. Shnider, Denis Jabaudon, Janet Song, Yasuhiro Itoh , et al. · 2021

Genetic studies of human-chimpanzee divergence using stem cell fusions Open

Janet Song, Rachel Grant, Veronica C. Behrens, Marek Kučka, Garrett A. Roberts Kingman , et al. · 2021

Complete genome sequencing has identified millions of DNA changes that differ between humans and chimpanzees. Although a subset of these changes likely underlies important phenotypic differences between humans and chimpanzees, it is curren…

Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions Open

Kelly M. Girskis, Andrew B. Stergachis, Ellen M. DeGennaro, Ryan N. Doan, Xuyu Qian , et al. · 2021

PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percreta † Open

Elisa Zhang, Roberta L. Hannibal, Keyla M. Badillo Rivera, Janet Song, Kelly A. McGowan , et al. · 2021

The obstetrical conditions placenta accreta spectrum (PAS) and placenta previa are a significant source of pregnancy-associated morbidity and mortality, yet the specific molecular and cellular underpinnings of these conditions are not know…

PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percreta Open

Elisa Zhang, Roberta L. Hannibal, Keyla M. Badillo Rivera, Janet Song, Kelly A. McGowan , et al. · 2020

The obstetrical conditions placenta accreta spectrum (PAS) and placenta previa are a significant source of pregnancy-associated morbidity and mortality, yet the specific molecular and cellular underpinnings of these conditions are not know…

Carbon Catcher Design Report Open

Janet Song, Stanley Oliver Radic, Nik Hammon, Thomas Slagle, Kevin Fang , et al. · 2020

Overview. The design of the overall Carbon Catcher project can be separated into four distinct systems, each of which is assigned a specialized committee. The committee names and responsibilities are listed below:\nAir Mover \nThe overall …

Isoquinoline thiosemicarbazone displays potent anticancer activity with in vivo efficacy against aggressive leukemias Open

Daniel L. Sun, Soumya Poddar, Roy D. Pan, Ethan W. Rosser, Evan R. Abt , et al. · 2020

Potent α-N-heterocyclic carboxaldehyde thiosemicarbazone (HCT) antiproliferatives were synthesized through iterative rounds of methylation and fluorination modifications, with anticancer activities being potentiated by physiological levels…

Metabolic Modifier Screen Reveals Secondary Targets of Protein Kinase Inhibitors within Nucleotide Metabolism Open

Evan R. Abt, Ethan W. Rosser, Matthew A. Durst, Vincent Lok, Soumya Poddar , et al. · 2019

Evaluation of Potent Isoquinoline-Based Thiosemicarbazone Antiproliferatives Against Solid Tumor Models Open

Daniel Sun, Soumya Poddar, Roy D. Pan, Juno Van Valkenburgh, Ethan W. Rosser , et al. · 2019

The lead compound, an ⍺-N-heterocyclic carboxaldehyde thiosemicarbazone HCT-13, was highly potent against a panel of pancreatic, small cell lung carcinoma, and prostate cancer models, with IC₉₀ values in the low-to-mid na…

Evaluation of Potent Isoquinoline-Based Thiosemicarbazone Antiproliferatives Against Solid Tumor Models Open

Daniel Sun, Soumya Poddar, Roy D. Pan, Juno Van Valkenburgh, Ethan W. Rosser , et al. · 2019

The lead compound, an ⍺-N-heterocyclic carboxaldehyde thiosemicarbazone HCT-13 , was highly potent against a panel of pancreatic, small cell lung carcinoma, and prostate cancer models, with IC 90 values in the low-to-mid nanomolar range. W…

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