9 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: 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: Neural correlates of domain-specific cognitive decline: the ARIC-NCS study

Andrea Lauren Christman Schneider, Matthew L Senjem, Aozhou Wu, Alden Gross, David S. Knopman, Jeffrey L Gunter, Christopher G Schwarz, Tom H. Mosley, Rebecca F. Gottesman, A. Richey Sharrett & Clifford R. Jack
Objective: To evaluate the association of cognitive declines in the domains of memory, language, and executive function with brain gray matter (GM) volume in old age. Methods: Prospective study of 1,846 participants in the Atherosclerosis Risk in Communities (ARIC) study who underwent 3T brain MRI scans in 2011-2013. Participants were categorized by cognitive domain performance trajectory over the prior 20 years (cut-point to define decline: 20th percentile). Associations between GM volume and cognitive declines were...

Data from: Variations in HLA-B cell surface expression, half-life and extracellular antigen receptivity

Brogan Yarzabek, Anita J. Zaitouna, Eli Olson, Gayathri N. Silva, Jie Geng, Aviva Geretz, Rasmi Thomas, Sujatha Krishnakumar, Daniel S. Ramon & Malini Raghavan
The highly polymorphic human leukocyte antigen (HLA) class I molecules present peptide antigens to CD8+ T cells, inducing immunity against infections and cancers. Quality control mediated by peptide loading complex (PLC) components is expected to ensure the cell surface expression of stable peptide-HLA class I complexes. This is exemplified by HLA-B*08:01 in primary human lymphocytes, with both expression level and half-life at the high end of the measured HLA-B expression and stability hierarchies. Conversely, low...

Data from: Clinical spectrum of STX1B-related epileptic disorders

Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini, Katherine L. Helbig, Cecilia Desmettre Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stoehr, Peter Widdess-Walsh, Bryce A. Mendelsohn, Adam Numis, Maria R. Cilio, Wim Van Paesschen, Lene L. Svendsen, Stephanie Oates, Elaine Hughes, Sushma Goyal, Kathleen Brown, Margarita Sifuentes Saenz, Thomas Dorn, Hiltrud Muhle, Alistair T. Pagnamenta, Dimitris V. Vavoulis … & Julian Schubert
Objective: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. Methods: We used next generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. Results: We...

Data from: Determining the genetic basis of anthracycline-cardiotoxicity by response QTL mapping in induced cardiomyocytes

David A. Knowles, Courtney K. Burrows, John D. Blischak, Kristen M. Patterson, Daniel J. Serie, Nadine Norton, Carole Ober, Jonathan K. Pritchard & Yoav Gilad
Anthracycline-induced cardiotoxicity (ACT) is a key limiting factor in setting optimal chemotherapy regimes, with almost half of patients expected to develop congestive heart failure given high doses. However, the genetic basis of sensitivity to anthracyclines remains unclear. We created a panel of iPSC-derived cardiomyocytes from 45 individuals and performed RNA-seq after 24h exposure to varying doxorubicin dosages. The transcriptomic response is substantial: the majority of genes are differentially expressed and over 6000 genes show evidence...

Data from: Age and sex differences in burnout, career satisfaction, and well-being in US neurologists

Kathrin LaFaver, Janis M. Miyasaki, Christopher M. Keran, Carol Rheaume, Lisa Gulya, Kerry H. Levin, Elaine C. Jones, Heidi B. Schwarz, Jennifer R. Molano, Amy Hessler, Divya Singhal, Tait D. Shanafelt, Jeff A. Sloan, Paul J. Novotny, Terrence L. Cascino & Neil A. Busis
Objective: To examine age and sex differences in burnout, career satisfaction, and well-being in US neurologists. Methods: Quantitative and qualitative analyses of men’s (n = 1,091) and women’s (n = 580) responses to a 2016 survey of US neurologists. Results: Emotional exhaustion in neurologists initially increased with age, then started to decrease as neurologists got older. Depersonalization decreased as neurologists got older. Fatigue and overall quality of life in neurologists initially worsened with age, then...

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: CSF1R-related leukoencephalopathy: a major player in primary microgliopathies

Takuya Konno, Koji Kasanuki, Takeshi Ikeuchi, Dennis W. Dickson & Zbigniew K. Wszolek
Since the discovery of CSF1R gene mutations in families with hereditary diffuse leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been identified around the world. Through the analyses of mutation carriers, CSF1R-related leukoencephalopathy has been distinctly characterized clinically, radiologically, and pathologically. Typically, patients present with frontotemporal dementia–like phenotype in their 40s–50s, accompanied by motor symptoms, including pyramidal and extrapyramidal signs. Women tend to develop the clinical symptoms at a younger age than...

Registration Year

  • 2018

Resource Types

  • Dataset


  • Mayo Clinic
  • Mayo Clinic
  • Massachusetts General Hospital
  • University of Cincinnati
  • University of Kentucky
  • Cleveland Clinic
  • University of Alabama at Birmingham
  • University of Antwerp
  • Hvidovre Hospital
  • Stanford University