8 Works

Data from: PCNT point mutations and familial intracranial aneurysms

Oswaldo Lorenzo-Betancor, Patrick R. Blackburn, Emily Edwards, Rocío Vázquez-Do-Campo, Eric W. Klee, Catherine Labbé, Kyndall Hodges, Patrick Glover, Ashley N. Sigafoos, Alexandra I. Soto, Ronald L. Walton, Stephen Doxsey, Michael B. Bober, Sarah Jennings, Karl J. Clark, Yan Asmann, David Miller, William D. Freeman, James Meschia & Owen A. Ross
Objective: To identify novel genes involved in the etiology of intracranial aneurysms (IA) and / or subarachnoid hemorrhages (SAH) using whole exome sequencing. Methods. In the present study we performed whole exome sequencing in thirteen individuals from three families with an autosomal dominant IA/SAH inheritance pattern to look for candidate genes for disease. Additionally, we sequenced PCNT exon 38 in 161 sporadic IA/SAH patients in order to find additional carriers of potential pathogenic variants. Results....

Data from: Optical coherence tomography is highly sensitive in detecting prior optic neuritis

Sarah Chaoying Xu, Randy H. Kardon, Jacqueline A. Leavitt, Eoin P. Flanagan, Sean J. Pittock & John J Chen
Objective: To explore sensitivity of optical coherence tomography (OCT) in detecting prior unilateral optic neuritis. Methods: Retrospective, observational clinical study of all patients who presented from 1/1/14 to 6/1/17 with unilateral optic neuritis and OCT available at least three months after the attack. We compared OCT retinal nerve fiber layer (RNFL) and ganglion cell inner plexiform layer (GCIPL) thicknesses between affected and unaffected contralateral eyes. We excluded patients with concomitant glaucoma or other optic neuropathies....

Data from: Subjective cognitive decline and risk of MCI: the Mayo Clinic Study of Aging

Argonde Corien Van Harten, Michelle M. Mielke, Dana M. Swenson-Dravis, Clinton E. Hagen, Kelly K. Edwards, Rosebud O. Roberts, Yonas E. Geda, David S. Knopman & Ronald C. Petersen
Objective: We investigated different dimensions of subjective cognitive decline (SCD) to determine which was the best prognostic risk factor for incident mild cognitive impairment (MCI) among cognitively unimpaired (CU) participants. Methods: We included 1167 CU participants, aged 70-95 years from the Mayo Clinic Study of Aging based on 2 concurrent SCD scales (part of the Blessed memory test and the 39-item ECog, which included a validated 12-item derivative) and a single question assessing worry about...

Data from: Landscape of tumor mutation load, mismatch repair deficiency, and PD-L1 expression in a large patient cohort of gastrointestinal cancers

Mohamed E. Salem, Alberto Puccini, Axel Grothey, Derek Raghavan, Richard M. Goldberg, Joanne Xiu, W. Michael Korn, Benjamin A. Weinberg, Jimmy J. Hwang, Anthony F. Shields, John L. Marshall, Philip A. Philip & Heinz-Josef Lenz
Purpose: The efficacy of immunotherapy varies widely among different gastrointestinal cancers. Response to immune checkpoint inhibitors is shown to correlate with tumor mutation load (TML), mismatch repair deficiency status (dMMR), and programmed cell death-ligand 1 (PD-L1) expression. Herein, we attempt to quantify TML, dMMR, and PD-L1 expression and determine their interrelationship in gastrointestinal cancers. Experimental Design: A total of 4125 tumors from 14 different gastrointestinal cancer sites were studied. Next-generation sequencing was performed on genomic...

Data from: Paraneoplastic neuronal intermediate filament autoimmunity

Eati Basal, Nicholas Zalewski, Thomas J. Kryzer, Shannon R. Hinson, Yong Guo, Divyanshu Dubey, Eduardo E. Benarroch, Claudia Francesca Lucchinetti, Sean J. Pittock, Vanda A. Lennon & Andrew McKeon
Objective: To describe paraneoplastic neuronal intermediate filament (NIF) autoimmunity. Methods: Archived patient and control serum and CSF specimens were evaluated by tissue-based indirect immunofluorescence assay (IFA). Autoantigens were identified by western blot and mass spectrometry. NIF specificity was confirmed by dual tissue section staining and 5 recombinant NIF-specific HEK293 cell based assays (CBAs, for alpha internexin, neurofilament light [NF-L], medium, or heavy chain, and peripherin). NIF-IgGs were correlated with neurological syndromes and cancers. Results: Among...

Data from: Revisiting protein aggregation as pathogenic in sporadic Parkinson’s and Alzheimer’s diseases

Alberto J. Espay, Joaquin A. Vizcarra, Luca Marsili, Anthony E. Lang, David K. Simon, Aristide Merola, Keith A. Josephs, Alfonso Fasano, Francesca Morgante, Rodolfo Savica, J. Timothy Greenamyre, Franca Cambi, Tritia R. Yamasaki, Caroline M. Tanner, Ziv Gan-Or, Irene Litvan, Ignacio F. Mata, Cyrus P. Zabetian, Patrik Brundin, Hubert H. Fernandez, David G. Standaert, Marcelo A. Kauffman, Michael A. Schwarzschild, S. Pablo Sardi, Todd Sherer … & James B. Leverenz
The gold standard for a definitive diagnosis of Parkinson’s disease (PD) is the pathologic finding of aggregated alpha-synuclein into Lewy bodies and for Alzheimer’s disease (AD) aggregated amyloid into plaques and hyperphosphorylated tau into tangles. Implicit in this clinico-pathologic-based nosology is the assumption that pathological protein aggregation at autopsy reflect pathogenesis at disease onset. While these aggregates may in exceptional cases be on a causal pathway in humans (e.g., aggregated alpha-synuclein in SNCA gene multiplication...

Data from: Comparative dynamics of microglialand glioma cell motility at the infiltrative margin of brain tumours

Joseph Juliano, Orlando Gil, Andrea Hawkins-Daarud, Sonal Noticewala, Russell C. Rockne, Jill Gallaher, Susan C. Massey, Peter A. Sims, Alexander R. A. Anderson, Kristin R. Swanson & Peter Canoll
Microglia are a major cellular component of gliomas, and abundant in the centre of the tumour and at the infiltrative margins. While glioma is a notoriously infiltrative disease, the dynamics of microglia and glioma migratory patterns have not been well characterized. To investigate the migratory behaviour of microglia and glioma cells at the infiltrative edge, we performed two-colour time-lapse fluorescence microscopy of brain slices generated from a platelet-derived growth factor-B (PDGFB)-driven rat model of glioma,...

Data from: Genome-wide markers reveal a complex evolutionary history involving divergence and introgression in the Abert's squirrel (Sciurus aberti) species group

Jeremy M. Bono, Helen K. Pigage, Peter J. Wettstein, Stephanie A. Prosser & Jon C. Pigage
Background: Genetic introgression between divergent lineages is now considered more common than previously appreciated, with potentially important consequences for adaptation and speciation. Introgression is often asymmetric between populations and patterns can vary for different types of loci (nuclear vs. organellar), complicating phylogeographic reconstruction. The taxonomy of the ecologically specialized Abert's squirrel species group has been controversial, and previous studies based on mitochondrial data have not fully resolved the evolutionary relationships among populations. Moreover, while these...

Registration Year

  • 2018

Resource Types

  • Dataset


  • Mayo Clinic
  • Mayo Clinic
  • University of California, San Diego
  • University of Southern California
  • Massachusetts General Hospital
  • University of Alabama at Birmingham
  • Karmanos Cancer Institute
  • Columbia University
  • Alfred I. duPont Hospital for Children
  • VA Puget Sound Health Care System