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

Pelger-Huet Anomaly

 
 
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Disease relevance of Pelger-Huet Anomaly

 

High impact information on Pelger-Huet Anomaly

 

Chemical compound and disease context of Pelger-Huet Anomaly

 

Biological context of Pelger-Huet Anomaly

  • Differentiation of human promyelocytic HL-60 cells into neutrophil-like cells was also accompanied by the down-regulation of lamins A/C but not of lamin B. Moreover, when compared with normal cells, neutrophils with the Pelger-Huët anomaly of nuclear hyposegmentation exhibited significantly lower activity of caspase-6, a lamin A/C-cleaving enzyme [8].
 

Anatomical context of Pelger-Huet Anomaly

  • Heterozygous mutations in LBR cause Pelger-Huët anomaly, characterized by morphologically abnormal neutrophil nuclei, and homozygous mutations cause HEM/Greenberg skeletal dysplasia, characterized by developmental abnormalities and 3 beta-hydroxysterol-epsilon-14-reductase deficiency [9].
 

Analytical, diagnostic and therapeutic context of Pelger-Huet Anomaly

References

  1. Severe hematologic toxicity of valproic acid. A report of four patients. Ganick, D.J., Sunder, T., Finley, J.L. The American journal of pediatric hematology/oncology. (1990) [Pubmed]
  2. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Hoffmann, K., Dreger, C.K., Olins, A.L., Olins, D.E., Shultz, L.D., Lucke, B., Karl, H., Kaps, R., Müller, D., Vayá, A., Aznar, J., Ware, R.E., Sotelo Cruz, N., Lindner, T.H., Herrmann, H., Reis, A., Sperling, K. Nat. Genet. (2002) [Pubmed]
  3. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Waterham, H.R., Koster, J., Mooyer, P., Noort Gv, G., Kelley, R.I., Wilcox, W.R., Wanders, R.J., Hennekam, R.C., Oosterwijk, J.C. Am. J. Hum. Genet. (2003) [Pubmed]
  4. Reversible Pelger-Huët anomaly associated with ibuprofen therapy. Deutsch, P.H., Mandell, G.L. Arch. Intern. Med. (1985) [Pubmed]
  5. Pelger-Huet anomaly and d-penicillamine. Levin, J.M. J. Rheumatol. (1980) [Pubmed]
  6. Translocation T(4;21) associated with the Pelger-Hüet anomaly in a patient with Ph chromosome-negative CML. Yermiahu, T., Dvilansky, A., Manor, E. Am. J. Hematol. (1996) [Pubmed]
  7. Acquired Pelger-Huët anomaly in association with concomitant tacrolimus and mycophenolate mofetil in a liver transplant patient: a case report and review of the literature. Etzell, J.E., Wang, E. Arch. Pathol. Lab. Med. (2006) [Pubmed]
  8. Role of nuclear lamins in nuclear segmentation of human neutrophils. Yabuki, M., Miyake, T., Doi, Y., Fujiwara, T., Hamazaki, K., Yoshioka, T., Horton, A.A., Utsumi, K. Physiological chemistry and physics and medical NMR. (1999) [Pubmed]
  9. Components of the nuclear envelope and their role in human disease. Worman, H.J. Novartis Found. Symp. (2005) [Pubmed]
 
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