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

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Gene Review: 

NAT8B  -  N-acetyltransferase 8B (GCN5-related,...

Homo sapiens

Synonyms: ATase1, Acetyltransferase 1, CML2, Camello-like protein 2, Hcml2, ...
 
 
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Disease relevance of NAT8B

  • Sixteen patients with malignant disease (AML 10, ALL 3, CML 2, MDS 1) and two with non-malignant disease (SCID 1, osteopetrosis 1) underwent non-T cell depleted allo-BMT [1].
 

High impact information on NAT8B

  • The premature terminations of CML2, MT1L, and SERPINA13 genes appear to abolish the original function of the encoded protein because the mutation removes a major part of the known active site in each case [2].
 

Analytical, diagnostic and therapeutic context of NAT8B

  • This drop was the least distinct with CML 2 systems, both with pulsatile and nonpulsatile perfusion, indicating system-inherent influences [3].

References

  1. Engraftment following mitoxantrone (Mito) based conditioning for allogeneic bone marrow transplantation (allo-BMT). Nagler, A., Soni, S., Samuel, S., Or, R. Leuk. Res. (1998) [Pubmed]
  2. Human-specific nonsense mutations identified by genome sequence comparisons. Hahn, Y., Lee, B. Hum. Genet. (2006) [Pubmed]
  3. Influence of 4 different membrane oxygenators on inflammation-like processes during extracorporeal circulation with pulsatile and non-pulsatile flow. Dapper, F., Neppl, H., Wozniak, G., Strube, I., Boldt, J., Hehrlein, F.W., Neuhof, H. European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery. (1992) [Pubmed]
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