4 Works

Data from: Adult MTM1-related myopathy carriers: classification based on deep phenotyping

Benjamin T. Cocanougher, Lauren Flynn, Pomi Yun, Minal Jain, Ruhi Vasavada, Jason Wittenbach, Sabine De Chastonay, Sameer Chhibber, A. Micheil Innes, Linda MacLaren, Tahseen Mozaffar, Andrew E. Arai, Sandra Donkervoort, Carsten G. Bönnemann & A. Reghan Foley
Objective To better characterize adult MTM1-related myopathy carriers and recommend a phenotypic classification. Methods This cohort study was performed at the National Institutes of Health Clinical Center. Participants were required to carry a confirmed MTM1 mutation and were recruited via the Congenital Muscle Disease International Registry (n=8), a traveling local clinic of the Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH and Cure CMD (n=1) and direct physician referral (n=1). Neuromuscular examinations, muscle MRI,...

Data from: Islands of retroelements are major components of Drosophila centromeres

Ching-Ho Chang, Ankita Chanvan, Jason Palladino, Xiaolu Wei, Nuno M. C. Martins, Bryce Santinello, Chin-Chi Chen, Jelena Erceg, Brian J. Beliveau, Chao-Ting Wu, Amanda M. Larracuente & Barbara G Mellone
Centromeres are essential chromosomal regions that mediate kinetochore assembly and spindle attachments during cell division. Despite their functional conservation, centromeres are amongst the most rapidly evolving genomic regions and can shape karyotype evolution and speciation across taxa. Although significant progress has been made in identifying centromere-associated proteins, the highly repetitive centromeres of metazoans have been refractory to DNA sequencing and assembly, leaving large gaps in our understanding of their functional organization and evolution. Here, we...

Conflicting signal in transcriptomic markers leads to a poorly resolved backbone phylogeny of Chalcidoid wasps

Junxia Zhang, Amelia R.I. Lindsey, Ralph S. Peters, John M. Heraty, Keith R. Hopper, John H. Werren, Ellen O. Martinson, James B. Woolley, Matt J. Yoder & Lars Krogmann
Chalcidoidea (Hymenoptera) are a megadiverse superfamily of wasps with astounding variation in both morphology and biology. Most species are parasitoids and important natural enemies of insects in terrestrial ecosystems. In this study, we explored a transcriptome-based phylogeny of Chalcidoidea and found that poorly resolved relationships could only be marginally improved by adding more genes (a total of 5,591) and taxa (a total of 65), proof-checking for errors of homology and contamination, and decreasing missing data....

Data from: Human retinal pigment epithelium: in vivo cell morphometry, multispectral autofluorescence, and relationship to cone mosaic

Charles E. Granger, Qiang Yang, Hongxin Song, Kenichi Saito, Koji Nozato, Lisa R. Latchney, Bianca T. Leonard, Mina M. Chung, David R. Williams & Ethan A. Rossi
Purpose: To characterize in vivo morphometry and multispectral autofluorescence of the retinal pigment epithelial (RPE) cell mosaic and its relationship to cone cell topography across the macula. Methods: RPE cell morphometrics were computed in regularly spaced regions of interest (ROIs) from contiguous short-wavelength autofluorescence (SWAF) and photoreceptor reflectance images collected across the macula in one eye of 10 normal participants (23–65 years) by using adaptive optics scanning light ophthalmoscopy (AOSLO). Infrared autofluorescence (IRAF) images of...

Registration Year

  • 2019
    4

Resource Types

  • Dataset
    4

Affiliations

  • University of Rochester
    4
  • University of Hohenheim
    1
  • University of Georgia
    1
  • University of Rochester Medical Center
    1
  • Zoological Research Museum Alexander Koenig
    1
  • Capital Medical University
    1
  • University of Pittsburgh
    1
  • Texas A&M University
    1
  • Indiana University
    1
  • United States Department of Agriculture
    1