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(hemizygosity)
599 results
  • Fitness benefits of loss of heterozygosity in Saccharomyces hybrids. [Journal Article]
    Genome Res 2019; 29(10):1685-1692Lancaster SM, Payen C, … Dunham MJ
  • With two genomes in the same organism, interspecific hybrids have unique fitness opportunities and costs. In both plants and yeasts, wild, pathogenic, and domesticated hybrids may eliminate portions of one parental genome, a phenomenon known as loss of heterozygosity (LOH). Laboratory evolution of hybrid yeast recapitulates these results, with LOH occurring in just a few hundred generations of pr…
  • Mobile DNA in Endocrinology: LINE-1 retrotransposon causing Partial Androgen Insensitivity Syndrome. [Journal Article]
    J Clin Endocrinol Metab 2019Batista RL, Yamaguchi K, … Mendonca BB
  • Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development in 46,XY individuals. It is an X-linked condition that is usually caused by pathogenic allelic variants in the androgen receptor (AR) gene. The phenotype depends on the AR variant, ranging from severe undervirilization (complete AIS, CAIS) to several degrees of external genitalia undervirilization. Howe…
  • Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males. [Journal Article]
    Eur J Med Genet 2019; :103703Oliveira 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.
  • De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome. [Journal Article]
    Cold Spring Harb Mol Case Stud 2019; 5(4)Barrie ES, Alfaro MP, … Zmuda EJ
  • Wolf-Hirschhorn syndrome (WHS) is a rare but recurrent microdeletion syndrome associated with hemizygosity of an interstitial segment of Chromosome 4 (4p16.3). Consistent with historical reports in which overlapping deletions defined a minimal critical region in WHS patients, recent reports from exome sequence analysis have provided further evidence that haploinsufficiency of a specific gene with…
  • The long and short of the S-locus in Turnera (Passifloraceae). [Journal Article]
    New Phytol 2019Shore JS, Hamam HJ, … McCubbin AG
  • Distyly is an intriguing floral adaptation that increases pollen transfer precision and restricts inbreeding. It has been a model system in evolutionary biology since Darwin. Although the S-locus determines the long- and short-styled morphs, the genes were unknown in Turnera. We have now identified these genes. We used deletion mapping to identify, and then sequence, BAC clones and genome scaffol…
  • QTL analysis reveals genomic variants linked to high-temperature fermentation performance in the industrial yeast. [Journal Article]
    Biotechnol Biofuels 2019; 12:59Wang 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]
    Biol Psychiatry 2019; 85(9):752-759Frohlich 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.
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