Altered RNA export by SF3B1 mutants confers sensitivity to nuclear export inhibition - Leukemia Leukemia - Altered RNA export by SF3B1 mutants confers sensitivity to nuclear export inhibition

📕 New in Leukemia from Springer Nature Group, "Altered RNA export by SF3B1 mutants confers sensitivity to nuclear export inhibition" with Eric Wang: www.nature.com/articles/s41... #jaxresearch 🧪🤝🖥️ 🧬 #scientificresearchpublishing

A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis A pan-cancer repository of >1,000 patient-derived xenograft hematoxylin and eosin–stained images will facilitate cancer biology investigations through histopathological analysis and contributes import...

📕 From AACR Journals: "A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis" with Brian White, Carol Bult, Jeffrey Chuang and team: aacrjournals.org/cancerres/ar... #jaxresearch 🧪🤝🖥️ 🧬 #scientificresearchpublishing

Longitudinal fragility phenotyping contributes to the prediction of lifespan and age-associated morbidity in C57BL/6 and Diversity Outbred mice - GeroScience Aging studies in mammalian models often depend on natural lifespan data as a primary outcome. Tools for lifespan prediction could accelerate these studies and reduce the need for veterinary interventi...

📗 New in GeroScience from Springer Nature Group, "Longitudinal fragility phenotyping contributes to the prediction of lifespan and age-associated morbidity in C57BL/6 and Diversity Outbred mice" with Alison Lu: link.springer.com/article/10.1... #jaxresearch 🧪🤝🖥️ 🧬 #scientificresearchpublishing

📔 New in Advanced Functional Materials from Wily, "Chemotherapeutics and CAR-T Cell-Based Immunotherapeutics Screening on a 3D Bioprinted Vascularized Breast Tumor Model" with Mikail Dogan & Derya Unutmaz: onlinelibrary.wiley.com/doi/10.1002/...
#jaxresearch 🧪🤝🖥️ 🧬 #scientificresearchpublishing

Speech and language classification in the human phenotype ontology - European Journal of Human Genetics European Journal of Human Genetics - Speech and language classification in the human phenotype ontology

📓 New in the European Journal of Human Genetics from Nature Portfolio, "Speech and language classification in the human phenotype ontology" with Ben Coleman & Peter Robinson: www.nature.com/articles/s41...
#jaxresearch 🧪🤝🖥️ 🧬 #scientificresearchpublishing

scientific image showing phenotype processing

📘 New in Redox Biology, "Discovery of genomic loci for liver health and steatosis reveals overlap with glutathione redox genetics" with Susan McClatchy & Gary Churchill:

doi.org/10.1016/j.re...

#jaxresearch 🧪🤝🖥️ 🧬 ⑂ #ScientificResearchPublishing

CDK4/6 inhibition enhances T-cell immunotherapy on hepatocellular carcinoma cells by rejuvenating immunogenicity - Cancer Cell International Hepatocellular carcinoma (HCC) poses a significant clinical challenge, necessitating the integration of immunotherapeutic approaches. Palbociclib, a selective CDK4/6 inhibitor, has demonstrated promis...

📔 New in Cancer Cell International from BMC, "CDK4/6 inhibition enhances T-cell immunotherapy on hepatocellular carcinoma cells by rejuvenating immunogenicity" with Xiurong Cai: doi.org/10.1186/s129...

#jaxresearch 🧪🤝🖥️ 🧬 ⑂ #immunosky #OncoSky #ScientificResearchPublishing

FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology AbstractMotivation. Human Phenotype Ontology (HPO)-based phenotype concept recognition (CR) underpins a faster and more effective mechanism to create patie

📘 New in Bioinformatics from Oxford University Press, "FastHPOCR: Pragmatic, fast and accurate concept recognition using the Human Phenotype Ontology" with Peter Robinson: doi.org/10.1093/bioi...

#jaxresearch 🧪🤝🖥️ 🧬 ⑂

Systems genetics uncover new loci containing functional gene candidates in Mycobacterium tuberculosis-infected Diversity Outbred mice Author summary We investigated the genetic basis of susceptibility to Mycobacterium tuberculosis using Diversity Outbred mice, a mouse population suited for studying complex genotype-phenotype relatio...

📗 New in @plos.bsky.social Pathogens, "Systems genetics uncover new loci containing functional gene candidates in Mycobacterium tuberculosis-infected Diversity Outbred mice" with Daniel Gatti, Anna Tyler, Matt Mahoney & Gary Churchill: journals.plos.org/plospathogen...

#jaxresearch 🧪🤝🖥️ 🧬 ⑂

Common data models to streamline metabolomics processing and annotation, and implementation in a Python pipeline To standardize metabolomics data analysis and facilitate future computational developments, it is essential to have a set of well-defined templates for common data structures. Here we describe a colle...

📙 New in @plos.bsky.social Computational Biology, "Common data models to streamline metabolomics processing and annotation, and implementation in a Python pipeline" with Joshua Mitchell, Yuanye Chi, Maheshwor Thapa & Shuzhao Li: doi.org/10.1371/jour...

#jaxresearch 🧪🤝🖥️ 🧬 ⑂ #ScientificPublishing

Association of post-COVID phenotypic manifestations with new-onset psychiatric disease - Translational Psychiatry Translational Psychiatry - Association of post-COVID phenotypic manifestations with new-onset psychiatric disease

📘 New in Translational Psychiatry from @natureportfolio.bsky.social, "Association of post-COVID phenotypic manifestations with new-onset psychiatric disease" with Ben Coleman, Hannah Blau & Peter Robinson: bit.ly/3Xo7XU1

#jaxresearch 🧪🤝🖥️ 🧬 ⑂ #ScientificResearchPublishing

Common data models to streamline metabolomics processing and annotation, and implementation in a Python pipeline To standardize metabolomics data analysis and facilitate future computational developments, it is essential to have a set of well-defined templates for common data structures. Here we describe a colle...

📙 New in @plos.bsky.social Computational Biology, "Common data models to streamline metabolomics processing and annotation, and implementation in a Python pipeline" with Joshua Mitchell, Yuanye Chi, Maheshwor Thapa & Shuzhao Li:

#jaxresearch 🧪🤝🖥️ 🧬 ⑂ #ResearchPublishing

doi.org/10.1371/jour...

3-Hydroxyanthranilic Acid Delays Paralysis in Caenorhabditis elegans Models of Amyloid-Beta and Polyglutamine Proteotoxicity Age is the primary risk factor for neurodegenerative diseases such as Alzheimer’s and Huntington’s disease. Alzheimer’s disease is the most common form of dementia and a leading cause of death in the ...

📗 New in Biomolecules MDPI, "3-Hydroxyanthranilic Acid Delays Paralysis in Caenorhabditis elegans Models of Amyloid-Beta and Polyglutamine Proteotoxicity" with Caroline Corban, Grant Backer, Susan Sheehan & Ron Korstanje:
bit.ly/3X1z8Uq

#jaxresearch 🧪🤝🖥️ 🧬 ⑂ #ScientificResearchPublishing

Mitochondrial DNA release and sensing in innate immune responses Abstract. Mitochondria are pleiotropic organelles central to an array of cellular pathways including metabolism, signal transduction, and programmed cell d

📘 New Review in Human Molecular Genetics, "Mitochondrial DNA release and sensing in innate immune responses" with Jordyn Van Portfliet & Phillip West:

#jaxresearch 🧪🤝🖥️ 🧬 ⑂ #immunosky #ScientificResearchPublishing

bit.ly/4bYeZD9

Lifespan effects in male UM-HET3 mice treated with sodium thiosulfate, 16-hydroxyestriol, and late-start canagliflozin - GeroScience Genetically heterogeneous UM-HET3 mice born in 2020 were used to test possible lifespan effects of alpha-ketoglutarate (AKG), 2,4-dinitrophenol (DNP), hydralazine (HYD), nebivolol (NEBI), 16α-hydroxye...

📓 New in GeroScience, "Lifespan effects in male UM-HET3 mice treated with sodium thiosulfate, 16-hydroxyestriol, and late-start canagliflozin" with David Harrison, Peter Reifsnyder, Ron Korstanje & Nadia Rosenthal:
#jaxresearch #ScientificResearchPublishing 🧪🤝🖥️ 🧬 ⑂

doi.org/10.1007/s113...

scientific illustration

📔 New review in Neuropharmacology, "Strategies to dissect microglia-synaptic interactions during aging and in #Alzheimer's disease" by Sarah Heuer, Erik Bloss & Gareth Howell:

🧪🤝🖥️ 🧬 ⑂ #jaxresearch #ScientificResearchPublishing
#alzsky #Neuroscience

doi.org/10.1016/j.ne...

🔎 New Review in Science Direct, "Chapter One - Satellite cells in the growth and maintenance of muscle" with JAX Postdoc John Bachman:

#jaxresearch #ScientificResearchPublishing 🧪🤝🖥️ 🧬 ⑂

bit.ly/3QM0Pg4

Adducin Regulates Sarcomere Disassembly During Cardiomyocyte Mitosis BACKGROUND: Recent interest in understanding cardiomyocyte cell cycle has been driven by potential therapeutic applications in cardiomyopathy. However, despite recent advances, cardiomyocyte mitosis

📕 New in Circulation, "Adducin Regulates Sarcomere Disassembly During Cardiomyocyte Mitosis" with Travis Hinson:

🧪🤝🖥️ 🧬 ⑂ #ScientificResearchPublishing #anatomy

bit.ly/3ydv9de #jaxresearch

Data-driven modeling of core gene regulatory network underlying leukemogenesis in IDH mutant AML - npj Systems Biology and Applications npj Systems Biology and Applications - Data-driven modeling of core gene regulatory network underlying leukemogenesis in IDH mutant AML

New in Systems Biology and Applications from @natureportfolio.bsky.social, "Data-driven modeling of core gene regulatory network underlying leukemogenesis in IDH mutant AML" with Xiaowen Chen & Sheng Li: bit.ly/4bCi0ZJ

#jaxresearch 🧪🤝🖥️ 🧬 ⑂

A data browsing application for accessing gene and module-level blood transcriptome profiles of healthy pregnant women from high- and low-resource settings Abstract. Transcriptome profiling data, generated via RNA sequencing, are commonly deposited in public repositories. However, these data may not be easily

📘 New in The Journal of Biological Databases and Curation, "A data browsing application for accessing gene and module-level blood transcriptome profiles of healthy pregnant women from high- and low-resource settings" with Mohammed Toufiq & Damien Chaussabel 🧪🤝🖥️ 🧬 ⑂:
bit.ly/3xzcVCv

#jaxresearch

Mouse Genome Informatics: an integrated knowledgebase system for the laboratory mouse Abstract. Mouse Genome Informatics (MGI) is a federation of expertly curated information resources designed to support experimental and computational inves

New in Genetics from Oxford Journals, "Mouse Genome Informatics: an integrated knowledgebase system for the laboratory mouse" by Richard Baldarelli, Cynthia Smith, Martin Ringwald, Joel Richardson, Carol Bult & MGI Mouse:

#jaxresearch 🧪🤝🖥️ 🧬 ⑂

doi.org/10.1093/gene...

RNA expression of 6 genes from metastatic mucosal gastric cancer serves as the global prognostic marker for gastric cancer with functional validation - British Journal of Cancer British Journal of Cancer - RNA expression of 6 genes from metastatic mucosal gastric cancer serves as the global prognostic marker for gastric cancer with functional validation

📘 New in the British Journal of Cancer, "RNA expression of 6 genes from metastatic mucosal gastric cancer serves as the global prognostic marker for gastric cancer with functional validation" from Charles Lee & team:

#jaxresearch 🧪🤝🖥️ 🧬 #OncoSky #ResearchPublishing

www.nature.com/articles/s41...

Tmod2 is a regulator of cocaine responses through control of striatal and cortical excitability, and drug-induced plasticity Drugs of abuse induce neuroadaptations, including synaptic plasticity, that are critical for transition to addiction, and genes and pathways that regulate these neuroadaptations are potential therapeutic targets. Tropomodulin 2 ( Tmod2 ) is an actin-regulating gene that plays an important role in synapse maturation and dendritic arborization and has been implicated in substance-abuse and intellectual disability in humans. Here we mine the KOMP2 data and find that Tmod 2 knockout mice show emotionality phenotypes that are predictive of addiction vulnerability. Detailed addiction phenotyping showed that Tmod2 deletion does not affect the acute locomotor response to cocaine administration. However, sensitized locomotor responses are highly attenuated in these knockouts, indicating perturbed drug-induced plasticity. In addition, Tmod2 mutant animals do not self-administer cocaine indicating lack of hedonic responses to cocaine. Whole brain MR imaging shows differences in brain volume across multiple regions although transcriptomic experiments did not reveal perturbations in gene co-expression networks. Detailed electrophysiological characterization of Tmod2 KO neurons, showed increased spontaneous firing rate of early postnatal and adult cortical and striatal neurons. Cocaine-induced synaptic plasticity that is critical for sensitization is either missing or reciprocal in Tmod2 KO nucleus accumbens shell medium spiny neurons, providing a mechanistic explanation of the cocaine response phenotypes. Combined, these data collected from both males and females, provide compelling evidence that Tmod2 is a major regulator of plasticity in the mesolimbic system and regulates the reinforcing and addictive properties of cocaine. Significance statement We identify, characterize, and establish tropomodulin 2 (Tmod2), an actin-regulating gene exclusively expressed in neurons, as an important regulator of addiction-related phenotypes. We show that Tmod2 , knockout mice ( Tmod2 KO ) exhibit phenotypes that are predictive of addiction. In detailed addiction phenotyping, we find the Tmod2 regulates cocaine sensitization and self-administration. We explore anatomical, transcriptional, electrophysiological mechanisms of this regulation. Combined these studies provide compelling evidence that Tmod2 is critical for synaptic plasticity necessary for transition to addiction.

📗 New in the Journal of Neuroscience, "Tmod2 is a regulator of cocaine responses through control of striatal and cortical excitability, and drug-induced plasticity" from @vivekdna.bsky.social and team:

#jaxresearch 🧪🤝🖥️ 🧬 ⑂ #addictionsci

www.jneurosci.org/content/earl...

Frontiers | Mucosal-associated invariant T cells in cancer: dual roles, complex interactions and therapeutic potential Mucosal-associated invariant T (MAIT) cells play diverse roles in cancer, infectious diseases, and immunotherapy. This review explores their intricate involv...

📓 New review in Frontiers in Immunology, "Mucosal-associated invariant T cells in cancer: dual roles, complex interactions and therapeutic potential" with Derya Unutmaz:

#jaxresearch 🧪🤝🖥️ 🧬 ⑂ #immunosky #ScientificResearchPublishing

www.frontiersin.org/journals/imm...

Transcriptome analysis reveals organ-specific effects of 2-deoxyglucose treatment in healthy mice Objective Glycolytic inhibition via 2-deoxy-D-glucose (2DG) has potential therapeutic benefits for a range of diseases, including cancer, epilepsy, systemic lupus erythematosus (SLE), and rheumatoid a...

📕 New in @plos.bsky.social, "Transcriptome analysis reveals organ-specific effects of 2-deoxyglucose treatment in healthy mice" with Chih-Hao Chang, @gwcarter.bsky.social & team:

#jaxresearch 🧪🤝🖥️ 🧬

doi.org/10.1371/jour...

Students pose for a group photo at The Jackson Laboratory in Farmington, Connecticut.

Two students practice pipetting into a gel electrophoresis tray at a table.

Four students laugh as they practice pipetting into small plastic tubes at a table.

Three students practice pipetting into small plastic tubes at a table.

We were pleased to welcome high school students w/ the Senior Doctors Academy of Health Career Opportunity Programs at @uconn.bsky.social Health to @jacksonlab.bsky.social.

Students got an overview of #JAXResearch & completed a hands-on genetic variation exercise. Thanks for visiting! 👏

#SciEd

Testing SIPA1L2 as a modifier of CMT1A using mouse models Abstract. Charcot-Marie-Tooth disease type 1A (CMT1A) is a demyelinating peripheral neuropathy caused by the duplication of peripheral myelin protein 22 (P

📘 New in the Journal of Neuropathology & Experimental Neurology, "Testing SIPA1L2 as a modifier of CMT1A using mouse models" with @georgecmurray.bsky.social, Timothy Hines, Abigail Tadenev & Robert Burgess:

#jaxresearch #raredisease #ScientificResearchPublishing
🧪🤝🖥️ 🧬

t.co/uxSGsnVrX3

Astaxanthin and meclizine extend lifespan in UM-HET3 male mice; fisetin, SG1002 (hydrogen sulfide do... In genetically heterogeneous (UM-HET3) mice produced by the CByB6F1 × C3D2F1 cross, the Nrf2 activator astaxanthin (Asta) extended the median male lifespan by 12% (p = 0.003, log-rank test), ...

📙 New in GeroScience, "Astaxanthin and meclizine extend lifespan in UM-HET3 male mice..." with Kevin Flurkey and David Harrison 🧪🤝🖥️ 🧬:

#jaxresearch

link.springer.com/article/10.1...

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex w... The Lamc2jeb junctional epidermolysis bullosa (EB) mouse model has been used to demonstrate that significant genetic modification of EB symptoms is possible, identifying as modifiers Col17a1 and six o...

📘 New in PLOS ONE from @plos.bsky.social, "Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum" with T.Sproule, R.Wilpan, J.Wilson, B.Low, M.Wiles, D.Roopenian & J.Sundberg:

#jaxresearch

doi.org/10.1371/jour...

Genetics and Genomics of Addiction Substance use disorders (SUD), like many neuropsychiatric conditions, are a heterogeneous group of disorders with similar symptomatology but often different pathoetiology [...]

📙 New editorial in Genes from MDPI, "Genetics and Genomics of Addiction" by Jason Bubier:

#jaxresearch

www.mdpi.com/2073-4425/14...