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594 results
  • Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males. [Journal Article]
  • EJEur J Med Genet 2019 Jun 11; :103703
  • Oliveira JP, Nowak A, … Germain DP
  • CONCLUSIONS: Hemizygosity for the GLA Leu113 variant allele is associated with a late-onset form of FD, invariably presenting with severe cardiac involvement. Clinically relevant cerebrovascular and kidney involvement may also occur in some patients but the pathogenic relationship between the incomplete α-galactosidase deficiency and the risks of stroke and of chronic kidney disease is not straightforward. The observation that the Leu113 allele segregated within the same GLA microsatellite haplotype in both the Portuguese and Italian families suggests its inheritance from a common ancestor.
  • QTL analysis reveals genomic variants linked to high-temperature fermentation performance in the industrial yeast. [Journal Article]
  • BBBiotechnol Biofuels 2019; 12:59
  • Wang Z, Qi Q, … Wang Q
  • CONCLUSIONS: This work revealed eight novel causative genes and SNP variants closely associated with high-temperature fermentation performance. Among these genes, VPS34 and DAP1 would be good targets for improving high-temperature fermentation of the industrial yeast. It also showed that loss of heterozygosity of causative genes could contribute to the improvement of high-temperature fermentation capacities. Our findings would provide guides to develop more robust and thermotolerant strains for the industrial production of ethanol.
  • Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes. [Journal Article]
  • BPBiol Psychiatry 2019 May 01; 85(9):752-759
  • Frohlich J, Miller MT, … Hipp JF
  • CONCLUSIONS: Our results provide strong evidence for the contribution of non-UBE3A neuronal pathophysiology in deletion AS and suggest that hemizygosity of the GABRB3-GABRA5-GABRG3 gene cluster causes abnormal theta and beta EEG oscillations that may underlie the more severe clinical phenotype. Our work improves the understanding of AS pathophysiology and has direct implications for the development of AS treatments and biomarkers.
  • The genetic basis of Turner syndrome aortopathy. [Journal Article]
  • AJAm J Med Genet C Semin Med Genet 2019; 181(1):117-125
  • Corbitt H, Gutierrez J, … Maslen CL
  • Our goal is to identify the genetic underpinnings of bicuspid aortic valve and aortopathy in Turner syndrome. We performed whole exome sequencing on 188 Turner syndrome study subjects from the GenTAC…
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