9 Works

Data from: Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma

Sarah Tannenbaum-Dvir, Julia L. Glade Bender, Alanna J. Church, Katherine A. Janeway, Marian H. Harris, Mahesh M. Mansukhani, Peter L. Nagy, Stuart J. Andrews, Vundavalli V. Murty, Angela Kadenhe-Chiweshe, Eileen P. Connolly, Andrew L. Kung & Filemon S. Dela Cruz
We describe the clinical course of a recurrent case of congenital fibrosarcoma diagnosed in a 9-mo-old boy with a history of hemimelia. Following complete surgical resection of the primary tumor, the patient subsequently presented with bulky bilateral pulmonary metastases 6 mo following surgery. Molecular characterization of the tumor revealed the absence of the prototypical ETV6-NTRK3 translocation. However, tumor characterization incorporating cytogenetic, array comparative genomic hybridization, and RNA sequencing analyses, revealed a somatic t(2;15)(2p21;15q25) translocation resulting...

Data from: Tensor analysis reveals distinct population structure that parallels the different computational roles of areas M1 and V1

Jeffrey S. Seely, Matthew T. Kaufman, Stephen I. Ryu, Krishna V. Shenoy, John P. Cunningham & Mark M. Churchland
Cortical firing rates frequently display elaborate and heterogeneous temporal structure. One often wishes to compute quantitative summaries of such structure—a basic example is the frequency spectrum—and compare with model-based predictions. The advent of large-scale population recordings affords the opportunity to do so in new ways, with the hope of distinguishing between potential explanations for why responses vary with time. We introduce a method that assesses a basic but previously unexplored form of population-level structure: when...

Data from: Immunoreactive peptide maps of SARS-CoV-2

Shreyas Joshi & Nischay Mishra
Serodiagnosis of SARS-CoV-2 infection is impeded by immunological cross-reactivity among the human coronaviruses (HCoVs) SARS-CoV-2, SARS-CoV-1, MERS-CoV, OC43, 229E, HKU1, and NL63. To study humoral immune responses specific to SARS-CoV-2, it is imperative to identify peptides that may enable discrimination between exposure to SARS-CoV-2 and other HCoVs. We used a high-density peptide microarray and plasma samples collected at two time points from 50 subjects with SARS-CoV-2 infection confirmed by qPCR, samples collected in 2004-2005 from...

Sudden Unexpected Death in Epilepsy: A Personalized Prediction Tool

Ashwani Jha, Cheongeun Oh, Dale Hesdorffer, Beate Diehl, Sasha Devore, Martin Brodie, Torbjörn Tomson, Josemir W. Sander, Thaddeus S. Walczak & Orrin Devinsky
Objective: To develop and validate a tool for individualised prediction of Sudden Unexpected Death in Epilepsy (SUDEP) risk, we re-analysed data from one cohort and three case-control studies undertaken 1980-2005. Methods: We entered 1273 epilepsy cases (287 SUDEP, 986 controls) and 22 clinical predictor variables into a Bayesian logistic regression model. Results: Cross-validated individualized model predictions were superior to baseline models developed from only average population risk or from generalised tonic-clonic seizure frequency (pairwise difference...

Data from: An integrated data resource for genomic analysis of cutaneous T-cell lymphoma

Li-Wei Chang, Larisa J. Geskin, Christina Chung Patrone, Fernando Gallardo, Blanca Espinet, Cornelis P. Tensen, Maarten Vermeer, Wei Yang & Michael Girardi
Recently, several groups have conducted sequencing studies of cutaneous T-cell lymphoma (CTCL) in order to identify disease driving mutations. An integrated genomic dataset that combines multiple cohorts may facilitate more comprehensive studies of disease pathways and genomic classification of CTCL, but currently no such resource is available. In this study we compiled and analyzed one such dataset that included matched genomic mutations and copy number alterations of 139 CTCL cases. Using this dataset, we studied...

Data from: Genetic or toxicant-induced disruption of vesicular monoamine storage and global metabolic profiling in Caenorhabditis elegans

Vrinda Kalia, Joshua Bradner, Fion Lau, Monica Sharma, Meghan Bucher, Michelle Johnson, Merry Chen, Douglas Walker, Dean Jones & Gary Miller
The proper storage and release of monoamines contributes to a wide range of neuronal activity. Here, we examine the effects of altered vesicular monoamine transport in the nematode C. elegans. The gene cat-1 is responsible for the encoding of the vesicular monoamine transporter (VMAT) in C. elegans and is analogous to the mammalian vesicular monoamine transporter 2 (VMAT2). Our laboratory has previously shown that reduced VMAT2 activity confers vulnerability on catecholamine neurons in mice. The...

A cross-sectional study of nemaline myopathy supplementary figures

Kimberly Amburgey, Meryl Acker, Samia Saeed, Reshma Amin, Alan H. Beggs, Carsten G. Bönneman, Michael Brudno, Andrei Constantinescu, Johannaz Dastgir, Mamadou Diallo, Casie A. Genetti, Michael Glueck, Stacy Hewson, Courtney Hum, Minal S. Jain, Michael W. Lawlor, Oscar H. Mayer, Leslie Nelson, Nicole Sultanum, Faiza Syed, Tuyen Tran, Ching H. Wang & James J. Dowling
Objective: Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, complemented by longitudinal assessment and exploration of pilot outcome measures. Methods: Fifty-seven individuals with NM were recruited at two family workshops, including 16 examined at both time points. Subjects were evaluated by clinical history and physical examination. Functional outcome measures included the Motor Function Measure (MFM), pulmonary function tests...

Neural activity during a simple reaching task in macaques is counter to gating and rebound in basal ganglia-thalamic communication

Bettina Schwab, Daisuke Kase, Andrew Zimnik, Robert Rosenbaum, Marcello Codianni, Jonathan Rubin & Robert Turner
Task-related activity in the ventral thalamus, a major target of basal ganglia output, is often assumed to be permitted or triggered by changes in basal ganglia activity through gating- or rebound-like mechanisms. To test those hypotheses, we sampled single-unit activity from connected basal ganglia output and thalamic nuclei (globus pallidus-internus, GPi, and ventrolateral-anterior nucleus, VLa) in monkeys performing a reaching task. Rate increases were the most common peri-movement change in both nuclei. Moreover, peri-movement changes...

Data from: Conservation of preparatory neural events in monkey motor cortex regardless of how movement is initiated

Antonio H Lara, Gamaleldin F Elsayed, Andrew J Zimnik, John P Cunningham & Mark M Churchland
A time-consuming preparatory stage is hypothesized to precede voluntary movement. A putative neural substrate of motor preparation occurs when a delay separates instruction and execution cues. When readiness is sustained during the delay, sustained neural activity is observed in motor and premotor areas. Yet whether delay-period activity reflects an essential preparatory stage is controversial. In particular, it has remained ambiguous whether delay-period-like activity appears before non-delayed movements. To overcome that ambiguity, we leveraged a recently...

Registration Year

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Affiliations

  • Columbia University Medical Center
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  • Columbia University
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  • New York University Langone Medical Center
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  • Howard Hughes Medical Institute
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  • Boston Children's Hospital
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  • Stanford University
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  • Medical College of Wisconsin
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  • University of Glasgow
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  • Goryeb Children's Hospital
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