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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Heterozygote

 
 
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Disease relevance of Heterozygote

 

Psychiatry related information on Heterozygote

 

High impact information on Heterozygote

  • Interbreeding of heterozygotes resulted in progressive telomere shortening, indicating that limiting telomerase compromises telomere maintenance [11].
  • We identified six mutations in SLC6A19 that cosegregated with disease in the predicted recessive manner, with most affected individuals being compound heterozygotes [12].
  • Thus, with respect to choice, mutation of Tsix yields a phenotypic abnormality in heterozygotes but not homozygotes [13].
  • Analysis of the human homolog of mutY, MYH, showed that the siblings were compound heterozygotes for the nonconservative missense variants Tyr165Cys and Gly382Asp [14].
  • An associated haplotype spanning LCT, as well as a distinct difference in the transcript levels of 'non-persistence' and 'persistence' alleles in heterozygotes, suggest that a cis-acting element contributes to the lactase non-persistence phenotype [15].
 

Chemical compound and disease context of Heterozygote

 

Biological context of Heterozygote

 

Anatomical context of Heterozygote

  • Cysteamine caused a decline in leukocyte cystine levels to the range seen in clinically unaffected heterozygotes; both plasma and urinary cystine diminished by more than half [26].
  • To know whether IGF2, the human homologue, is also imprinted, we used an ApaI polymorphism at the 3' untranslated region in order to distinguish between mRNA derived from each copy of the gene in placentae from heterozygote human fetuses, studied after careful removal of the decidua [27].
  • (Approximately one in seven persons in the United States is a heterozygote.) The subjects consumed a low-cholesterol diet (about 200 mg [0.5 mmol] of cholesterol per day) during a two-week run-in period; daily cholesterol intake was then increased to approximately 1100 mg (2.8 mmol) by the addition of four egg yolks per day [28].
  • Cytological analysis of third instar salivary gland nuclei from Kochi/Confluens heterozygotes suggests that complete pairing is not essential for Sgs-4K enhancement [29].
  • In addition, sg heterozygotes show accelerated dendritic atrophy and cell loss, suggesting that sg has a role in mature Purkinje cells [30].
 

Associations of Heterozygote with chemical compounds

 

Gene context of Heterozygote

 

Analytical, diagnostic and therapeutic context of Heterozygote

References

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