Randall Carpenter

Aging disrupts sympathetic innervation of the thymus

Randall Carpenter, Farzana Begum, Maria K. Lagou, Mahamudun Bhuiyan et autres

The thymus, a primary lymphoid organ essential for lifelong T cell development, undergoes progressive age-related involution. The thymus is innervated by the sympathetic nervous system (SNS), but the extent of innervation and its relationship to the microenvironment or age-related involution remain unclear. …

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Brain Mecp2 Gene Dosage and Gene Therapy Shape Multi-Omic Signatures and Putative Biomarkers in Rett Syndrome

Stephanie A. Zlatic, Eric B. Dammer, Amanda J. Crocker, Duc M. Duong et autres

Abstract Rett syndrome (RTT) is a neurodevelopmental disorder caused by MECP2 mutations. Like other genetic neurodevelopmental disorders, it lacks protein biomarkers to evaluate disease and therapeutic outcomes. We present a strategy to define putative biomarkers of MeCP2 dysfunction in brain with potential …

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Parent-Reported Outcome Measures for Individuals with Fragile X Syndrome: Clinically Meaningful Change Thresholds

Meredith A. Nelson, Lauren Schmitt, Paul S. Horn, Elizabeth Berry‐Kravis et autres

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Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants

Stephanie A. Zlatic, Erica Werner, Veda Surapaneni, Chelsea E. Lee et autres

Genes mutated in monogenic neurodevelopmental disorders are broadly expressed. This observation supports the concept that monogenic neurodevelopmental disorders are systemic diseases that profoundly impact neurodevelopment. We tested the systemic disease model focusing on Rett syndrome, which is caused by mutations in MECP2. …

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Systemic Proteome Phenotypes Reveal Defective Metabolic Flexibility in Mecp2 Mutants

Stephanie A. Zlatic, Erica Werner, Veda Surapaneni, Chelsea E. Lee et autres

Genes mutated in monogenic neurodevelopmental disorders are broadly expressed. This observation supports the concept that monogenic neurodevelopmental disorders are systemic diseases that profoundly impact neurodevelopment. We tested the systemic disease model focusing on Rett syndrome, which is caused by mutations in MECP2. …

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Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome

Stephanie A. Zlatic, Duc Minh Duong, Kamal K.E. Gadalla, Brenda Murage et autres

MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome of Rett cerebrospinal fluid (CSF) to identify consensus Rett proteome and …

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Promoting FAIR Data Through Community-driven Agile Design: the Open Data Commons for Spinal Cord Injury (odc-sci.org)

Abel Torres Espin, Carlos de Almeida, Austin Chou, J. Russell Huie et autres

The past decade has seen accelerating movement from data protectionism in publishing toward open data sharing to improve reproducibility and translation of biomedical research. Developing data sharing infrastructures to meet these new demands remains a challenge. One model for data sharing involves …

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Sociodemographics, Beliefs, and Attitudes as Determinants of College Students' Career Aspirations

Darrick Tovar‐Murray, Miranda M. Parries, Jessica S. Gutheil, Randall Carpenter

We sought to determine the extent to which sociodemographic characteristics indirectly influence the relationships among self‐efficacy beliefs, feminist attitudes, and career aspiration domains. A group of college students (N = 1,129; 37% racial minorities) from an urban midwestern university participated in the …

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Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities

Michelle L. Krishnan, Elizabeth Berry‐Kravis, Jamie K. Capal, Randall Carpenter et autres

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High-Throughput Sequencing of mGluR Signaling Pathway Genes Reveals Enrichment of Rare Variants in Autism

Raymond J. Kelleher, Ute Geigenmüller, Hayk Hovhannisyan, Edwin Trautman et autres

Identification of common molecular pathways affected by genetic variation in autism is important for understanding disease pathogenesis and devising effective therapies. Here, we test the hypothesis that rare genetic variation in the metabotropic glutamate-receptor (mGluR) signaling pathway contributes to autism susceptibility. Single-nucleotide …

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Analgesia from a peripherally active κ-opioid receptor agonist in patients with chronic pancreatitis

James C. Eisenach, Randall Carpenter, Regina S. Curry

Preclinical studies suggest that visceral afferents constitutively express kappa-opioid receptors (KORs) and that noxious visceral stimuli can be inhibited at a peripheral site by KOR activation. To test the relevance of these observations to humans, we infused, in a randomized, double blind …

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Randomized double-blind study of the clinical duration and efficacy of nesacaine-mpf 2% and 3% in peribulbar anesthesia

Gary Cass, William Cody Reynolds, Timothy Lorenzen, David N. Leach et autres

PURPOSE: To compare 2 commercially available concentrations of Nesacaine-MPF (2-chloroprocaine) to determine the time to onset of adequate motor blockade, the quality of surgical anesthesia, and the duration of motor blockade in the extraocular muscles after peribulbar anesthesia for cataract surgery. SETTING: …

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