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Träfflista för sökning "WFRF:(Supple Gregory E.) "

Search: WFRF:(Supple Gregory E.)

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1.
  • Christmas, Matthew, et al. (author)
  • Evolutionary constraint and innovation across hundreds of placental mammals
  • 2023
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 380:6643
  • Journal article (peer-reviewed)abstract
    • Zoonomia is the largest comparative genomics resource for mammals produced to date. By aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect fitness and alter disease risk. At least 332 million bases (similar to 10.7%) in the human genome are unusually conserved across species (evolutionarily constrained) relative to neutrally evolving repeats, and 4552 ultraconserved elements are nearly perfectly conserved. Of 101 million significantly constrained single bases, 80% are outside protein-coding exons and half have no functional annotations in the Encyclopedia of DNA Elements (ENCODE) resource. Changes in genes and regulatory elements are associated with exceptional mammalian traits, such as hibernation, that could inform therapeutic development. Earth's vast and imperiled biodiversity offers distinctive power for identifying genetic variants that affect genome function and organismal phenotypes.
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2.
  • Liuba, Ioan, et al. (author)
  • Scar progression in patients with nonischemic cardiomyopathy and ventricular arrhythmias
  • 2014
  • In: Heart Rhythm. - : Elsevier. - 1547-5271 .- 1556-3871. ; 11:5, s. 755-762
  • Journal article (peer-reviewed)abstract
    • BACKGROUND Disease progression in patients with nonischemic cardiomyopathy (NICM) is poorly understood. OBJECTIVE To assess left ventricular(LV) scar progression and dilatation by using endocardial electroanatomic mapping. METHODS We studied 13 patients with NICM and recurrent ventricular tachycardia. Two detailed sinus rhythm endocardial voltage maps(265 +/- 122 points/map) were obtained after a mean of 32 months(range 9-77 months). The scar area, defined by low bipolar (BI; less than 1.5 mV) and unipolar(UNI; less than 8.3 mV) endocardial voltage, and the LV volume were measured and compared. A scar difference of greater than 6% of the LV surface and an increase in LV volume of greater than= 20 mL were considered beyond measurement error. RESULTS Six (46%) patients had an increase in scar area beyond boundaries of prior ablation. Five patients had an increase in UNI and 1 patient had an increase in both BI and UNI areas. The increase in BI area represented 16% and the increase in UNI area represented 6.5%-46.2% of the LV surface. A significant decrease in LV ejection fraction was found only in patients with scar progression (from 39% +/- 8%:p = .0003) (LV volume increase ranging between 9% and 23%) was noted in 3 patients, all of whom had scar progression. CONCLUSIONS Progressive scarring with an increase in the area of UNI and less commonly BI electrogram abnormality is seen in 46% of the patients with NICM and ventricular tachycardia and is associated with LV dilatation and decrease in LV ejection fraction. The prominent UNI abnormality suggests predominantly midmyo-cardial or epicardial scarring.
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