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

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Gene Review: 

HSD17B8  -  hydroxysteroid (17-beta) dehydrogenase 8

Homo sapiens

Synonyms: 17-beta-HSD 8, 17-beta-hydroxysteroid dehydrogenase 8, D6S2245E, Estradiol 17-beta-dehydrogenase 8, FABG, ...
 
 
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Disease relevance of HSD17B8

  • A significant increased MICA RNA expression in tumour tissues compared to healthy surrounding tissue and a significant decreased HSD17B8 RNA in tumour tissues compared to surrounding healthy tissue, particular in those tumours without lymph node metastasis, were observed [1].
 

High impact information on HSD17B8

  • The genomic sequence of a 42,801-bp long region encoded by one cosmid clone in the RING1, HKE6, and HKE4 subregions was determined by the shotgun method [2].
  • The correlations between the dose of hydroxychloroquine and mfERG N1 and P1 response amplitudes were strongest for the paracentral ring 2 (rho =-0.63 and rho =-0.62, respectively, P = 0.001) [3].
  • We present a girl with ring 2 chromosome, exhibiting severe growth failure, minor dysmorphic features, spontaneously closed ventricular septum defect, and normal development [4].

References

  1. Genes in the HLA region indicative for head and neck squamous cell carcinoma. Reinders, J., Rozemuller, E.H., van der Weide, P., Oka, A., Slootweg, P.J., Inoko, H., Tilanus, M.G. Mol. Immunol. (2007) [Pubmed]
  2. Physical mapping 220 kb centromeric of the human MHC and DNA sequence analysis of the 43-kb segment including the RING1, HKE6, and HKE4 genes. Kikuti, Y.Y., Tamiya, G., Ando, A., Chen, L., Kimura, M., Ferreira, E., Tsuji, K., Trowsdale, J., Inoko, H. Genomics (1997) [Pubmed]
  3. Visual Field and Multifocal Electroretinography and their Correlations in Patients on Hydroxychloroquine Therapy. Lai, T.Y., Ngai, J.W., Chan, W.M., Lam, D.S. Documenta ophthalmologica. Advances in ophthalmology. (2006) [Pubmed]
  4. "Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes. Kosho, T., Matsushima, K., Sahashi, T., Mitsui, N., Fukushima, Y., Sobajima, H., Ohashi, H. Genetic counseling (Geneva, Switzerland) (2005) [Pubmed]
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